Log page index: User:ProteinBoxBot/PBB_Log_Index
Protein Status Quick Log - Date: 05:55, 7 November 2007 (UTC)
[edit]Proteins without matches (16)
[edit]Proteins with a High Potential Match (9)
[edit]Manual Inspection (Page not found) (20)
[edit]
Protein Status Grid - Date: 05:55, 7 November 2007 (UTC)
[edit]Vebose Log - Date: 05:55, 7 November 2007 (UTC)
[edit]- INFO: Beginning work on CACNA1A... {November 6, 2007 9:29:23 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:30:51 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
| HGNCid = 1388
| Symbol = CACNA1A
| AltSymbols =; APCA; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
| OMIM = 601011
| ECnumber =
| Homologene = 56383
| MGIid = 109482
| GeneAtlas_image1 = PBB_GE_CACNA1A_214933_at_tn.png
| GeneAtlas_image2 = PBB_GE_CACNA1A_206399_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_CACNA1A_210770_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005245 |text = voltage-gated calcium channel activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0019905 |text = syntaxin binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005891 |text = voltage-gated calcium channel complex}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042995 |text = cell projection}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006816 |text = calcium ion transport}} {{GNF_GO|id=GO:0007204 |text = elevation of cytosolic calcium ion concentration}} {{GNF_GO|id=GO:0007268 |text = synaptic transmission}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008219 |text = cell death}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 773
| Hs_Ensembl = ENSG00000141837
| Hs_RefseqProtein = NP_000059
| Hs_RefseqmRNA = NM_000068
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 13179088
| Hs_GenLoc_end = 13478038
| Hs_Uniprot = O00555
| Mm_EntrezGene = 12286
| Mm_Ensembl = ENSMUSG00000034656
| Mm_RefseqmRNA = XM_986985
| Mm_RefseqProtein = XP_992079
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 8
| Mm_GenLoc_start = 87305750
| Mm_GenLoc_end = 87530351
| Mm_Uniprot = Q2TPN3
}}
}}
'''Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit''', also known as '''CACNA1A''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants have been described, however, the full-length nature of not all is known. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.<ref>{{cite web | title = Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=773| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Terwindt G, Kors E, Haan J, ''et al.'' |title=Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. |journal=Arch. Neurol. |volume=59 |issue= 6 |pages= 1016-8 |year= 2002 |pmid= 12056940 |doi= }}
*{{cite journal | author=Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J |title=International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 411-25 |year= 2006 |pmid= 16382099 |doi= 10.1124/pr.57.4.5 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CAMK2A... {November 6, 2007 9:30:52 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein CAMK2A image.jpg {November 6, 2007 9:31:06 PM PST}
- CREATE: Found no pages, creating new page. {November 6, 2007 9:31:17 PM PST}
- CREATED: Created new protein page: CAMK2A {November 6, 2007 9:31:24 PM PST}
- INFO: Beginning work on CTTN... {November 6, 2007 9:31:24 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein CTTN image.jpg {November 6, 2007 9:32:16 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:32:27 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_CTTN_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1x69.
| PDB = {{PDB2|1x69}}, {{PDB2|2d1x}}
| Name = Cortactin
| HGNCid = 3338
| Symbol = CTTN
| AltSymbols =; EMS1; FLJ34459
| OMIM = 164765
| ECnumber =
| Homologene = 3834
| MGIid = 99695
| GeneAtlas_image1 = PBB_GE_CTTN_201059_at_tn.png
| GeneAtlas_image2 = PBB_GE_CTTN_214074_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0001726 |text = ruffle}} {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005938 |text = cell cortex}} {{GNF_GO|id=GO:0030027 |text = lamellipodium}}
| Process =
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2017
| Hs_Ensembl = ENSG00000085733
| Hs_RefseqProtein = NP_005222
| Hs_RefseqmRNA = NM_005231
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 69922292
| Hs_GenLoc_end = 69960337
| Hs_Uniprot = Q14247
| Mm_EntrezGene = 13043
| Mm_Ensembl = ENSMUSG00000031078
| Mm_RefseqmRNA = NM_007803
| Mm_RefseqProtein = NP_031829
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 144245125
| Mm_GenLoc_end = 144280399
| Mm_Uniprot = Q3UGC2
}}
}}
'''Cortactin''', also known as '''CTTN''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Two splice variants that encode different isoforms have been identified for this gene.<ref>{{cite web | title = Entrez Gene: CTTN cortactin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2017| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Weed SA, Parsons JT |title=Cortactin: coupling membrane dynamics to cortical actin assembly. |journal=Oncogene |volume=20 |issue= 44 |pages= 6418-34 |year= 2001 |pmid= 11607842 |doi= 10.1038/sj.onc.1204783 }}
*{{cite journal | author=Buday L, Downward J |title=Roles of cortactin in tumor pathogenesis. |journal=Biochim. Biophys. Acta |volume=1775 |issue= 2 |pages= 263-73 |year= 2007 |pmid= 17292556 |doi= 10.1016/j.bbcan.2006.12.002 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on F13A1... {November 6, 2007 9:32:27 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein F13A1 image.jpg {November 6, 2007 9:32:59 PM PST}
- CREATE: Found no pages, creating new page. {November 6, 2007 9:33:08 PM PST}
- CREATED: Created new protein page: F13A1 {November 6, 2007 9:33:16 PM PST}
- INFO: Beginning work on FOXO1A... {November 6, 2007 9:33:16 PM PST}
- CREATE: Found no pages, creating new page. {November 6, 2007 9:34:12 PM PST}
- CREATED: Created new protein page: FOXO1A {November 6, 2007 9:34:19 PM PST}
- INFO: Beginning work on FOXP3... {November 6, 2007 9:53:56 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:55:02 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Forkhead box P3
| HGNCid = 6106
| Symbol = FOXP3
| AltSymbols =; AIID; DIETER; IPEX; JM2; MGC141961; MGC141963; PIDX; XPID
| OMIM = 300292
| ECnumber =
| Homologene = 8516
| MGIid = 1891436
| GeneAtlas_image1 = PBB_GE_FOXP3_221333_at_tn.png
| GeneAtlas_image2 = PBB_GE_FOXP3_221334_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016565 |text = general transcriptional repressor activity}} {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}} {{GNF_GO|id=GO:0051059 |text = NF-kappaB binding}} {{GNF_GO|id=GO:0051525 |text = NFAT protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0043234 |text = protein complex}}
| Process = {{GNF_GO|id=GO:0002725 |text = negative regulation of T cell cytokine production}} {{GNF_GO|id=GO:0006338 |text = chromatin remodeling}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}} {{GNF_GO|id=GO:0032088 |text = inhibition of NF-kappaB transcription factor}} {{GNF_GO|id=GO:0032689 |text = negative regulation of interferon-gamma production}} {{GNF_GO|id=GO:0032693 |text = negative regulation of interleukin-10 production}} {{GNF_GO|id=GO:0032703 |text = negative regulation of interleukin-2 production}} {{GNF_GO|id=GO:0032713 |text = negative regulation of interleukin-4 production}} {{GNF_GO|id=GO:0032792 |text = inhibition of CREB transcription factor}} {{GNF_GO|id=GO:0042110 |text = T cell activation}} {{GNF_GO|id=GO:0043029 |text = T cell homeostasis}} {{GNF_GO|id=GO:0045085 |text = negative regulation of interleukin-2 biosynthetic process}} {{GNF_GO|id=GO:0045892 |text = negative regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0045941 |text = positive regulation of transcription}} {{GNF_GO|id=GO:0046007 |text = negative regulation of activated T cell proliferation}} {{GNF_GO|id=GO:0050710 |text = negative regulation of cytokine secretion}} {{GNF_GO|id=GO:0050777 |text = negative regulation of immune response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 50943
| Hs_Ensembl = ENSG00000049768
| Hs_RefseqProtein = NP_054728
| Hs_RefseqmRNA = NM_014009
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 48993841
| Hs_GenLoc_end = 49008232
| Hs_Uniprot = Q9BZS1
| Mm_EntrezGene = 20371
| Mm_Ensembl = ENSMUSG00000039521
| Mm_RefseqmRNA = NM_054039
| Mm_RefseqProtein = NP_473380
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 6743278
| Mm_GenLoc_end = 6752193
| Mm_Uniprot = Q53Z59
}}
}}
'''Forkhead box P3''', also known as '''FOXP3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text =
}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Schmidt-Weber CB, Blaser K |title=The role of the FOXP3 transcription factor in the immune regulation of allergic asthma. |journal=Current allergy and asthma reports |volume=5 |issue= 5 |pages= 356-61 |year= 2006 |pmid= 16091206 |doi= }}
*{{cite journal | author=Li B, Samanta A, Song X, ''et al.'' |title=FOXP3 ensembles in T-cell regulation. |journal=Immunol. Rev. |volume=212 |issue= |pages= 99-113 |year= 2006 |pmid= 16903909 |doi= 10.1111/j.0105-2896.2006.00405.x }}
*{{cite journal | author=Ziegler SF |title=FOXP3: not just for regulatory T cells anymore. |journal=Eur. J. Immunol. |volume=37 |issue= 1 |pages= 21-3 |year= 2007 |pmid= 17183612 |doi= 10.1002/eji.200636929 }}
*{{cite journal | author=Zhang L, Zhao Y |title=The regulation of Foxp3 expression in regulatory CD4(+)CD25(+)T cells: multiple pathways on the road. |journal=J. Cell. Physiol. |volume=211 |issue= 3 |pages= 590-7 |year= 2007 |pmid= 17311282 |doi= 10.1002/jcp.21001 }}
*{{cite journal | author=Bacchetta R, Gambineri E, Roncarolo MG |title=Role of regulatory T cells and FOXP3 in human diseases. |journal=J. Allergy Clin. Immunol. |volume=120 |issue= 2 |pages= 227-35; quiz 236-7 |year= 2007 |pmid= 17666212 |doi= 10.1016/j.jaci.2007.06.023 }}
*{{cite journal | author=Ochs HD, Torgerson TR |title=Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression. |journal=Adv. Exp. Med. Biol. |volume=601 |issue= |pages= 27-36 |year= 2007 |pmid= 17712989 |doi= }}
*{{cite journal | author=Long E, Wood KJ |title=Understanding FOXP3: progress towards achieving transplantation tolerance. |journal=Transplantation |volume=84 |issue= 4 |pages= 459-61 |year= 2007 |pmid= 17713426 |doi= 10.1097/01.tp.0000275424.52998.ad }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GNAQ... {November 6, 2007 9:34:19 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein GNAQ image.jpg {November 6, 2007 9:35:19 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:35:32 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_GNAQ_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bcj.
| PDB = {{PDB2|2bcj}}
| Name = Guanine nucleotide binding protein (G protein), q polypeptide
| HGNCid = 4390
| Symbol = GNAQ
| AltSymbols =; G-ALPHA-q; GAQ
| OMIM = 600998
| ECnumber =
| Homologene = 1566
| MGIid = 95776
| GeneAtlas_image1 = PBB_GE_GNAQ_202615_at_tn.png
| GeneAtlas_image2 = PBB_GE_GNAQ_211426_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005834 |text = heterotrimeric G-protein complex}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0001508 |text = regulation of action potential}} {{GNF_GO|id=GO:0006471 |text = protein amino acid ADP-ribosylation}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007189 |text = G-protein signaling, adenylate cyclase activating pathway}} {{GNF_GO|id=GO:0007202 |text = phospholipase C activation}} {{GNF_GO|id=GO:0007215 |text = glutamate signaling pathway}} {{GNF_GO|id=GO:0007507 |text = heart development}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}} {{GNF_GO|id=GO:0016322 |text = neuron remodeling}} {{GNF_GO|id=GO:0042733 |text = embryonic digit morphogenesis}} {{GNF_GO|id=GO:0045634 |text = regulation of melanocyte differentiation}} {{GNF_GO|id=GO:0048066 |text = pigmentation during development}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2776
| Hs_Ensembl = ENSG00000156052
| Hs_RefseqProtein = NP_002063
| Hs_RefseqmRNA = NM_002072
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 9
| Hs_GenLoc_start = 79520823
| Hs_GenLoc_end = 79836194
| Hs_Uniprot = P50148
| Mm_EntrezGene = 14682
| Mm_Ensembl = ENSMUSG00000024639
| Mm_RefseqmRNA = NM_008139
| Mm_RefseqProtein = NP_032165
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 19
| Mm_GenLoc_start = 16199850
| Mm_GenLoc_end = 16454472
| Mm_Uniprot = Q3UHH5
}}
}}
'''Guanine nucleotide binding protein (G protein), q polypeptide''', also known as '''GNAQ''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GTP for GDP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2776| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Raymond JR, Mukhin YV, Gelasco A, ''et al.'' |title=Multiplicity of mechanisms of serotonin receptor signal transduction. |journal=Pharmacol. Ther. |volume=92 |issue= 2-3 |pages= 179-212 |year= 2002 |pmid= 11916537 |doi= }}
*{{cite journal | author=Van Oekelen D, Luyten WH, Leysen JE |title=5-HT2A and 5-HT2C receptors and their atypical regulation properties. |journal=Life Sci. |volume=72 |issue= 22 |pages= 2429-49 |year= 2003 |pmid= 12650852 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GNB3... {November 6, 2007 9:35:32 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:36:04 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Guanine nucleotide binding protein (G protein), beta polypeptide 3
| HGNCid = 4400
| Symbol = GNB3
| AltSymbols =;
| OMIM = 139130
| ECnumber =
| Homologene = 55628
| MGIid = 95785
| GeneAtlas_image1 = PBB_GE_GNB3_206047_at_tn.png
| Function = {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}}
| Component =
| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0008217 |text = blood pressure regulation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2784
| Hs_Ensembl = ENSG00000111664
| Hs_RefseqProtein = NP_002066
| Hs_RefseqmRNA = NM_002075
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 12
| Hs_GenLoc_start = 6820713
| Hs_GenLoc_end = 6826819
| Hs_Uniprot = P16520
| Mm_EntrezGene = 14695
| Mm_Ensembl = ENSMUSG00000023439
| Mm_RefseqmRNA = NM_013530
| Mm_RefseqProtein = NP_038558
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 6
| Mm_GenLoc_start = 124799859
| Mm_GenLoc_end = 124805894
| Mm_Uniprot = Q54AE3
}}
}}
'''Guanine nucleotide binding protein (G protein), beta polypeptide 3''', also known as '''GNB3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Additional splice variants may exist for this gene, but they have not been fully described.<ref>{{cite web | title = Entrez Gene: GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2784| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Wedegaertner PB, Wilson PT, Bourne HR |title=Lipid modifications of trimeric G proteins. |journal=J. Biol. Chem. |volume=270 |issue= 2 |pages= 503-6 |year= 1995 |pmid= 7822269 |doi= }}
*{{cite journal | author=Downes GB, Gautam N |title=The G protein subunit gene families. |journal=Genomics |volume=62 |issue= 3 |pages= 544-52 |year= 2000 |pmid= 10644457 |doi= 10.1006/geno.1999.5992 }}
*{{cite journal | author=Sartori M, Parotto E, Ceolotto G, ''et al.'' |title=[C825T polymorphism of the GNB3 gene codifying the G-protein beta3-subunit and cardiovascular risk] |journal=Ann. Ital. Med. Int. |volume=19 |issue= 4 |pages= 240-8 |year= 2005 |pmid= 15678704 |doi= }}
*{{cite journal | author=Zhu H, Wang X, Lu Y, ''et al.'' |title=Update on G-protein polymorphisms in hypertension. |journal=Curr. Hypertens. Rep. |volume=8 |issue= 1 |pages= 23-9 |year= 2006 |pmid= 16600156 |doi= }}
*{{cite journal | author=Weder AB |title=Genetics and hypertension. |journal=Journal of clinical hypertension (Greenwich, Conn.) |volume=9 |issue= 3 |pages= 217-23 |year= 2007 |pmid= 17341998 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on HEXA... {November 6, 2007 9:36:04 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein HEXA image.jpg {November 6, 2007 9:36:19 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:36:32 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_HEXA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2gjx.
| PDB = {{PDB2|2gjx}}, {{PDB2|2gk1}}
| Name = Hexosaminidase A (alpha polypeptide)
| HGNCid = 4878
| Symbol = HEXA
| AltSymbols =; MGC99608; TSD
| OMIM = 606869
| ECnumber =
| Homologene = 20146
| MGIid = 96073
| Function = {{GNF_GO|id=GO:0004563 |text = beta-N-acetylhexosaminidase activity}} {{GNF_GO|id=GO:0016798 |text = hydrolase activity, acting on glycosyl bonds}} {{GNF_GO|id=GO:0043169 |text = cation binding}} {{GNF_GO|id=GO:0046982 |text = protein heterodimerization activity}}
| Component = {{GNF_GO|id=GO:0005764 |text = lysosome}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0005975 |text = carbohydrate metabolic process}} {{GNF_GO|id=GO:0006687 |text = glycosphingolipid metabolic process}} {{GNF_GO|id=GO:0006689 |text = ganglioside catabolic process}} {{GNF_GO|id=GO:0007040 |text = lysosome organization and biogenesis}} {{GNF_GO|id=GO:0007605 |text = sensory perception of sound}} {{GNF_GO|id=GO:0007626 |text = locomotory behavior}} {{GNF_GO|id=GO:0007628 |text = adult walking behavior}} {{GNF_GO|id=GO:0008152 |text = metabolic process}} {{GNF_GO|id=GO:0019915 |text = sequestering of lipid}} {{GNF_GO|id=GO:0019953 |text = sexual reproduction}} {{GNF_GO|id=GO:0030203 |text = glycosaminoglycan metabolic process}} {{GNF_GO|id=GO:0042552 |text = myelination}} {{GNF_GO|id=GO:0050884 |text = regulation of posture}} {{GNF_GO|id=GO:0050885 |text = regulation of balance}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3073
| Hs_Ensembl =
| Hs_RefseqProtein = NP_000511
| Hs_RefseqmRNA = NM_000520
| Hs_GenLoc_db =
| Hs_GenLoc_chr =
| Hs_GenLoc_start =
| Hs_GenLoc_end =
| Hs_Uniprot =
| Mm_EntrezGene = 15211
| Mm_Ensembl = ENSMUSG00000025232
| Mm_RefseqmRNA = NM_010421
| Mm_RefseqProtein = NP_034551
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 59337673
| Mm_GenLoc_end = 59363111
| Mm_Uniprot = Q3THQ0
}}
}}
'''Hexosaminidase A (alpha polypeptide)''', also known as '''HEXA''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Hexosaminidase A is the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).<ref>{{cite web | title = Entrez Gene: HEXA hexosaminidase A (alpha polypeptide)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3073| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Mahuran DJ |title=The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. |journal=Biochim. Biophys. Acta |volume=1096 |issue= 2 |pages= 87-94 |year= 1991 |pmid= 1825792 |doi= }}
*{{cite journal | author=Myerowitz R |title=Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. |journal=Hum. Mutat. |volume=9 |issue= 3 |pages= 195-208 |year= 1997 |pmid= 9090523 |doi= 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7 }}
*{{cite journal | author=Mahuran DJ |title=Biochemical consequences of mutations causing the GM2 gangliosidoses. |journal=Biochim. Biophys. Acta |volume=1455 |issue= 2-3 |pages= 105-38 |year= 1999 |pmid= 10571007 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on HLA-E... {November 6, 2007 9:36:32 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein HLA-E image.jpg {November 6, 2007 9:37:41 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:37:58 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_HLA-E_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1kpr.
| PDB = {{PDB2|1kpr}}, {{PDB2|1ktl}}, {{PDB2|1mhe}}, {{PDB2|2esv}}
| Name = Major histocompatibility complex, class I, E
| HGNCid = 4962
| Symbol = HLA-E
| AltSymbols =; DKFZp686P19218; EA1.2; EA2.1; HLA-6.2; MHC
| OMIM = 143010
| ECnumber =
| Homologene = 38064
| MGIid = 95957
| GeneAtlas_image1 = PBB_GE_HLA-E_200904_at_tn.png
| GeneAtlas_image2 = PBB_GE_HLA-E_200905_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_HLA-E_217456_x_at_tn.png
| Function = {{GNF_GO|id=GO:0032393 |text = MHC class I receptor activity}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042612 |text = MHC class I protein complex}}
| Process = {{GNF_GO|id=GO:0002474 |text = antigen processing and presentation of peptide antigen via MHC class I}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0019882 |text = antigen processing and presentation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3133
| Hs_Ensembl = ENSG00000204592
| Hs_RefseqProtein = NP_005507
| Hs_RefseqmRNA = NM_005516
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 6
| Hs_GenLoc_start = 30565198
| Hs_GenLoc_end = 30569950
| Hs_Uniprot = P13747
| Mm_EntrezGene = 15040
| Mm_Ensembl = ENSMUSG00000067212
| Mm_RefseqmRNA = XM_001004712
| Mm_RefseqProtein = XP_001004712
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 35638029
| Mm_GenLoc_end = 35640754
| Mm_Uniprot = Q31130
}}
}}
'''Major histocompatibility complex, class I, E''', also known as '''HLA-E''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail.<ref>{{cite web | title = Entrez Gene: HLA-E major histocompatibility complex, class I, E| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3133| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Arnaiz-Villena A, Martinez-Laso J, Alvarez M, ''et al.'' |title=Primate Mhc-E and -G alleles. |journal=Immunogenetics |volume=46 |issue= 4 |pages= 251-66 |year= 1997 |pmid= 9218527 |doi= }}
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
*{{cite journal | author=Greenway AL, Holloway G, McPhee DA, ''et al.'' |title=HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication. |journal=J. Biosci. |volume=28 |issue= 3 |pages= 323-35 |year= 2004 |pmid= 12734410 |doi= }}
*{{cite journal | author=Bénichou S, Benmerah A |title=[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] |journal=Med Sci (Paris) |volume=19 |issue= 1 |pages= 100-6 |year= 2003 |pmid= 12836198 |doi= }}
*{{cite journal | author=Leavitt SA, SchOn A, Klein JC, ''et al.'' |title=Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. |journal=Curr. Protein Pept. Sci. |volume=5 |issue= 1 |pages= 1-8 |year= 2004 |pmid= 14965316 |doi= }}
*{{cite journal | author=Tolstrup M, Ostergaard L, Laursen AL, ''et al.'' |title=HIV/SIV escape from immune surveillance: focus on Nef. |journal=Curr. HIV Res. |volume=2 |issue= 2 |pages= 141-51 |year= 2004 |pmid= 15078178 |doi= }}
*{{cite journal | author=Joseph AM, Kumar M, Mitra D |title=Nef: "necessary and enforcing factor" in HIV infection. |journal=Curr. HIV Res. |volume=3 |issue= 1 |pages= 87-94 |year= 2005 |pmid= 15638726 |doi= }}
*{{cite journal | author=Anderson JL, Hope TJ |title=HIV accessory proteins and surviving the host cell. |journal=Current HIV/AIDS reports |volume=1 |issue= 1 |pages= 47-53 |year= 2005 |pmid= 16091223 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on IRF1... {November 6, 2007 9:37:58 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein IRF1 image.jpg {November 6, 2007 9:38:38 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:38:50 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_IRF1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1if1.
| PDB = {{PDB2|1if1}}
| Name = Interferon regulatory factor 1
| HGNCid = 6116
| Symbol = IRF1
| AltSymbols =; IRF-1; MAR
| OMIM = 147575
| ECnumber =
| Homologene = 1658
| MGIid = 96590
| GeneAtlas_image1 = PBB_GE_IRF1_202531_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0045084 |text = positive regulation of interleukin-12 biosynthetic process}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}} {{GNF_GO|id=GO:0045893 |text = positive regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3659
| Hs_Ensembl = ENSG00000125347
| Hs_RefseqProtein = NP_002189
| Hs_RefseqmRNA = NM_002198
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 131845200
| Hs_GenLoc_end = 131854389
| Hs_Uniprot = P10914
| Mm_EntrezGene = 16362
| Mm_Ensembl = ENSMUSG00000018899
| Mm_RefseqmRNA = NM_008390
| Mm_RefseqProtein = NP_032416
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 53613501
| Mm_GenLoc_end = 53620853
| Mm_Uniprot = Q4FK18
}}
}}
'''Interferon regulatory factor 1''', also known as '''IRF1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = IRF1 encodes interferon regulatory factor 1, a member of the interferon regulatory transcription factor (IRF) family. IRF1 serves as an activator of interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction of these genes. IRF1 also functions as a transcription activator of genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion.<ref>{{cite web | title = Entrez Gene: IRF1 interferon regulatory factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3659| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Harada H, Taniguchi T, Tanaka N |title=The role of interferon regulatory factors in the interferon system and cell growth control. |journal=Biochimie |volume=80 |issue= 8-9 |pages= 641-50 |year= 1999 |pmid= 9865486 |doi= }}
*{{cite journal | author=Pitha PM, Au WC, Lowther W, ''et al.'' |title=Role of the interferon regulatory factors (IRFs) in virus-mediated signaling and regulation of cell growth. |journal=Biochimie |volume=80 |issue= 8-9 |pages= 651-8 |year= 1999 |pmid= 9865487 |doi= }}
*{{cite journal | author=Yu-Lee L |title=Stimulation of interferon regulatory factor-1 by prolactin. |journal=Lupus |volume=10 |issue= 10 |pages= 691-9 |year= 2002 |pmid= 11721695 |doi= }}
*{{cite journal | author=Pine R |title=IRF and tuberculosis. |journal=J. Interferon Cytokine Res. |volume=22 |issue= 1 |pages= 15-25 |year= 2002 |pmid= 11846972 |doi= 10.1089/107999002753452629 }}
*{{cite journal | author=Romeo G, Fiorucci G, Chiantore MV, ''et al.'' |title=IRF-1 as a negative regulator of cell proliferation. |journal=J. Interferon Cytokine Res. |volume=22 |issue= 1 |pages= 39-47 |year= 2002 |pmid= 11846974 |doi= 10.1089/107999002753452647 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on L1CAM... {November 6, 2007 9:38:50 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:40:11 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = L1 cell adhesion molecule
| HGNCid = 6470
| Symbol = L1CAM
| AltSymbols =; CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAML1; S10; SPG1
| OMIM = 308840
| ECnumber =
| Homologene = 20128
| MGIid = 96721
| GeneAtlas_image1 = PBB_GE_L1CAM_204584_at_tn.png
| GeneAtlas_image2 = PBB_GE_L1CAM_204585_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3897
| Hs_Ensembl = ENSG00000198910
| Hs_RefseqProtein = NP_000416
| Hs_RefseqmRNA = NM_000425
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 152780163
| Hs_GenLoc_end = 152804802
| Hs_Uniprot = P32004
| Mm_EntrezGene = 16728
| Mm_Ensembl = ENSMUSG00000031391
| Mm_RefseqmRNA = NM_008478
| Mm_RefseqProtein = NP_032504
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 70106675
| Mm_GenLoc_end = 70133554
| Mm_Uniprot = Q6PGJ3
}}
}}
'''L1 cell adhesion molecule''', also known as '''L1CAM''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant.<ref>{{cite web | title = Entrez Gene: L1CAM L1 cell adhesion molecule| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3897| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Fransen E, Lemmon V, Van Camp G, ''et al.'' |title=CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. |journal=Eur. J. Hum. Genet. |volume=3 |issue= 5 |pages= 273-84 |year= 1996 |pmid= 8556302 |doi= }}
*{{cite journal | author=Fransen E, Van Camp G, Vits L, Willems PJ |title=L1-associated diseases: clinical geneticists divide, molecular geneticists unite. |journal=Hum. Mol. Genet. |volume=6 |issue= 10 |pages= 1625-32 |year= 1997 |pmid= 9300653 |doi= }}
*{{cite journal | author=Weller S, Gärtner J |title=Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. |journal=Hum. Mutat. |volume=18 |issue= 1 |pages= 1-12 |year= 2001 |pmid= 11438988 |doi= 10.1002/humu.1144 }}
*{{cite journal | author=Bearer CF |title=L1 cell adhesion molecule signal cascades: targets for ethanol developmental neurotoxicity. |journal=Neurotoxicology |volume=22 |issue= 5 |pages= 625-33 |year= 2002 |pmid= 11770884 |doi= }}
*{{cite journal | author=Haspel J, Grumet M |title=The L1CAM extracellular region: a multi-domain protein with modular and cooperative binding modes. |journal=Front. Biosci. |volume=8 |issue= |pages= s1210-25 |year= 2003 |pmid= 12957823 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on MPZ... {November 6, 2007 9:41:12 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein MPZ image.jpg {November 6, 2007 9:41:44 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:42:14 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_MPZ_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1neu.
| PDB = {{PDB2|1neu}}
| Name = Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
| HGNCid = 7225
| Symbol = MPZ
| AltSymbols =; DSS; CHM; CMT4E; CMT1; CMT1B; CMT2I; CMT2J; CMTDI3; HMSNIB; MPP; P0
| OMIM = 159440
| ECnumber =
| Homologene = 445
| MGIid = 103177
| GeneAtlas_image1 = PBB_GE_MPZ_210280_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0008366 |text = axon ensheathment}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4359
| Hs_Ensembl = ENSG00000158887
| Hs_RefseqProtein = NP_000521
| Hs_RefseqmRNA = NM_000530
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 159541149
| Hs_GenLoc_end = 159546368
| Hs_Uniprot = P25189
| Mm_EntrezGene = 17528
| Mm_Ensembl = ENSMUSG00000056569
| Mm_RefseqmRNA = NM_008623
| Mm_RefseqProtein = NP_032649
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 1
| Mm_GenLoc_start = 172987388
| Mm_GenLoc_end = 172997798
| Mm_Uniprot = Q542C9
}}
}}
'''Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)''', also known as '''MPZ''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Myelin protein-zero is the major structural protein of peripheral myelin.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: MPZ myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4359| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Patel PI, Lupski JR |title=Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. |journal=Trends Genet. |volume=10 |issue= 4 |pages= 128-33 |year= 1994 |pmid= 7518101 |doi= }}
*{{cite journal | author=Roa BB, Lupski JR |title=Molecular genetics of Charcot-Marie-Tooth neuropathy. |journal=Adv. Hum. Genet. |volume=22 |issue= |pages= 117-52 |year= 1995 |pmid= 7762451 |doi= }}
*{{cite journal | author=Nelis E, Haites N, Van Broeckhoven C |title=Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. |journal=Hum. Mutat. |volume=13 |issue= 1 |pages= 11-28 |year= 1999 |pmid= 9888385 |doi= 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A }}
*{{cite journal | author=Watanabe M, Yamamoto N, Ohkoshi N, ''et al.'' |title=Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. |journal=Neurology |volume=59 |issue= 5 |pages= 767-9 |year= 2002 |pmid= 12221176 |doi= }}
*{{cite journal | author=Hattori N, Yamamoto M, Yoshihara T, ''et al.'' |title=Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. |journal=Brain |volume=126 |issue= Pt 1 |pages= 134-51 |year= 2003 |pmid= 12477701 |doi= }}
*{{cite journal | author=Shy ME |title=Peripheral neuropathies caused by mutations in the myelin protein zero. |journal=J. Neurol. Sci. |volume=242 |issue= 1-2 |pages= 55-66 |year= 2006 |pmid= 16414078 |doi= 10.1016/j.jns.2005.11.015 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on NCOR1... {November 6, 2007 9:51:14 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:53:04 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Nuclear receptor co-repressor 1
| HGNCid = 7672
| Symbol = NCOR1
| AltSymbols =; KIAA1047; MGC104216; N-CoR; TRAC1; hCIT529I10; hN-CoR
| OMIM = 600849
| ECnumber =
| Homologene = 38166
| MGIid = 1349717
| GeneAtlas_image1 = PBB_GE_NCOR1_200854_at_tn.png
| GeneAtlas_image2 = PBB_GE_NCOR1_200855_at_tn.png
| GeneAtlas_image3 = PBB_GE_NCOR1_200856_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003714 |text = transcription corepressor activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}} {{GNF_GO|id=GO:0045449 |text = regulation of transcription}} {{GNF_GO|id=GO:0045892 |text = negative regulation of transcription, DNA-dependent}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 9611
| Hs_Ensembl = ENSG00000141027
| Hs_RefseqProtein = XP_001133522
| Hs_RefseqmRNA = XM_001133522
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 15875984
| Hs_GenLoc_end = 16059570
| Hs_Uniprot = O75376
| Mm_EntrezGene = 20185
| Mm_Ensembl =
| Mm_RefseqmRNA = NM_011308
| Mm_RefseqProtein = NP_035438
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Nuclear receptor co-repressor 1''', also known as '''NCOR1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. An alternatively spliced transcript variant has been described, but its full length sequence has not been determined.<ref>{{cite web | title = Entrez Gene: NCOR1 nuclear receptor co-repressor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9611| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Minucci S, Pelicci PG |title=Retinoid receptors in health and disease: co-regulators and the chromatin connection. |journal=Semin. Cell Dev. Biol. |volume=10 |issue= 2 |pages= 215-25 |year= 1999 |pmid= 10441075 |doi= 10.1006/scdb.1999.0303 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PAX6... {November 6, 2007 9:42:14 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PAX6 image.jpg {November 6, 2007 9:42:47 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:43:08 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PAX6_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2cue.
| PDB = {{PDB2|2cue}}, {{PDB2|6pax}}
| Name = Paired box gene 6 (aniridia, keratitis)
| HGNCid = 8620
| Symbol = PAX6
| AltSymbols =; AN; AN2; D11S812E; MGC17209; MGDA; WAGR
| OMIM = 607108
| ECnumber =
| Homologene = 1212
| MGIid = 97490
| GeneAtlas_image1 = PBB_GE_PAX6_205646_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0001654 |text = eye development}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007417 |text = central nervous system development}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5080
| Hs_Ensembl = ENSG00000007372
| Hs_RefseqProtein = NP_000271
| Hs_RefseqmRNA = NM_000280
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 31767034
| Hs_GenLoc_end = 31796085
| Hs_Uniprot = P26367
| Mm_EntrezGene = 18508
| Mm_Ensembl = ENSMUSG00000027168
| Mm_RefseqmRNA = NM_013627
| Mm_RefseqProtein = NP_038655
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 105469735
| Mm_GenLoc_end = 105498202
| Mm_Uniprot = Q3UTV5
}}
}}
'''Paired box gene 6 (aniridia, keratitis)''', also known as '''PAX6''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes paired box gene 6, one of many human homologues of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause aniridia as well as Peter's anomaly, both ocular diseases.<ref>{{cite web | title = Entrez Gene: PAX6 paired box gene 6 (aniridia, keratitis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5080| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Callaerts P, Halder G, Gehring WJ |title=PAX-6 in development and evolution. |journal=Annu. Rev. Neurosci. |volume=20 |issue= |pages= 483-532 |year= 1997 |pmid= 9056723 |doi= 10.1146/annurev.neuro.20.1.483 }}
*{{cite journal | author=Prosser J, van Heyningen V |title=PAX6 mutations reviewed. |journal=Hum. Mutat. |volume=11 |issue= 2 |pages= 93-108 |year= 1998 |pmid= 9482572 |doi= 10.1002/(SICI)1098-1004(1998)11:2<93::AID-HUMU1>3.0.CO;2-M }}
*{{cite journal | author=Hever AM, Williamson KA, van Heyningen V |title=Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2. |journal=Clin. Genet. |volume=69 |issue= 6 |pages= 459-70 |year= 2007 |pmid= 16712695 |doi= 10.1111/j.1399-0004.2006.00619.x }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PRKCQ... {November 6, 2007 9:43:08 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein PRKCQ image.jpg {November 6, 2007 9:44:05 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:44:22 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_PRKCQ_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1xjd.
| PDB = {{PDB2|1xjd}}
| Name = Protein kinase C, theta
| HGNCid = 9410
| Symbol = PRKCQ
| AltSymbols =; MGC126514; MGC141919; PRKCT; nPKC-theta
| OMIM = 600448
| ECnumber =
| Homologene = 21263
| MGIid = 97601
| GeneAtlas_image1 = PBB_GE_PRKCQ_210039_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_PRKCQ_210038_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0004697 |text = protein kinase C activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0019992 |text = diacylglycerol binding}}
| Component = {{GNF_GO|id=GO:0001772 |text = immunological synapse}} {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0001558 |text = regulation of cell growth}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0042102 |text = positive regulation of T cell proliferation}} {{GNF_GO|id=GO:0045086 |text = positive regulation of interleukin-2 biosynthetic process}} {{GNF_GO|id=GO:0051092 |text = activation of NF-kappaB transcription factor}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5588
| Hs_Ensembl = ENSG00000065675
| Hs_RefseqProtein = NP_006248
| Hs_RefseqmRNA = NM_006257
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 10
| Hs_GenLoc_start = 6509111
| Hs_GenLoc_end = 6662269
| Hs_Uniprot = Q04759
| Mm_EntrezGene = 18761
| Mm_Ensembl = ENSMUSG00000026778
| Mm_RefseqmRNA = NM_008859
| Mm_RefseqProtein = NP_032885
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 11090235
| Mm_GenLoc_end = 11219079
| Mm_Uniprot = Q3UK53
}}
}}
'''Protein kinase C, theta''', also known as '''PRKCQ''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors.<ref>{{cite web | title = Entrez Gene: PRKCQ protein kinase C, theta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5588| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Meller N, Altman A, Isakov N |title=New perspectives on PKCtheta, a member of the novel subfamily of protein kinase C. |journal=Stem Cells |volume=16 |issue= 3 |pages= 178-92 |year= 1998 |pmid= 9617893 |doi= }}
*{{cite journal | author=Greenway AL, Holloway G, McPhee DA, ''et al.'' |title=HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication. |journal=J. Biosci. |volume=28 |issue= 3 |pages= 323-35 |year= 2004 |pmid= 12734410 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SFRS1... {November 6, 2007 9:44:22 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein SFRS1 image.jpg {November 6, 2007 9:45:31 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:45:50 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SFRS1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1x4a.
| PDB = {{PDB2|1x4a}}
| Name = Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor)
| HGNCid = 10780
| Symbol = SFRS1
| AltSymbols =; ASF; MGC5228; SF2; SF2p33; SRp30a
| OMIM = 600812
| ECnumber =
| Homologene = 31411
| MGIid = 98283
| GeneAtlas_image1 = PBB_GE_SFRS1_208863_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_SFRS1_201742_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_SFRS1_211784_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005681 |text = spliceosome}}
| Process = {{GNF_GO|id=GO:0006376 |text = mRNA splice site selection}} {{GNF_GO|id=GO:0006397 |text = mRNA processing}} {{GNF_GO|id=GO:0008380 |text = RNA splicing}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6426
| Hs_Ensembl = ENSG00000136450
| Hs_RefseqProtein = NP_001071634
| Hs_RefseqmRNA = NM_001078166
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 53437651
| Hs_GenLoc_end = 53439593
| Hs_Uniprot = Q07955
| Mm_EntrezGene = 110809
| Mm_Ensembl = ENSMUSG00000018379
| Mm_RefseqmRNA = NM_001078167
| Mm_RefseqProtein = NP_001071635
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 87863880
| Mm_GenLoc_end = 87867803
| Mm_Uniprot = Q6PDM2
}}
}}
'''Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor)''', also known as '''SFRS1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene encodes a member of the arginine/serine-rich splicing factor protein family, and functions in both constitutive and alternative pre-mRNA splicing. The protein binds to pre-mRNA transcripts and components of the spliceosome, and can either activate or repress splicing depending on the location of the pre-mRNA binding site. The protein's ability to activate splicing is regulated by phosphorylation and interactions with other splicing factor associated proteins. Multiple transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: SFRS1 splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate splicing factor)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6426| accessdate = }}</ref>
}}
==References==
{{reflist}}
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SIN3A... {November 6, 2007 9:53:04 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein SIN3A image.jpg {November 6, 2007 9:53:27 PM PST}
- CREATE: Found no pages, creating new page. {November 6, 2007 9:53:49 PM PST}
- CREATED: Created new protein page: SIN3A {November 6, 2007 9:53:56 PM PST}
- INFO: Beginning work on SMAD1... {November 6, 2007 9:40:11 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein SMAD1 image.jpg {November 6, 2007 9:40:50 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:41:12 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SMAD1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1khu.
| PDB = {{PDB2|1khu}}
| Name = SMAD family member 1
| HGNCid = 6767
| Symbol = SMAD1
| AltSymbols =; BSP1; JV4-1; JV41; MADH1; MADR1
| OMIM = 601595
| ECnumber =
| Homologene = 21196
| MGIid = 109452
| GeneAtlas_image1 = PBB_GE_SMAD1_210993_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0005057 |text = receptor signaling protein activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0016563 |text = transcription activator activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005667 |text = transcription factor complex}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0000165 |text = MAPKKK cascade}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007179 |text = transforming growth factor beta receptor signaling pathway}} {{GNF_GO|id=GO:0007276 |text = gamete generation}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}} {{GNF_GO|id=GO:0009880 |text = embryonic pattern specification}} {{GNF_GO|id=GO:0030509 |text = BMP signaling pathway}} {{GNF_GO|id=GO:0030901 |text = midbrain development}} {{GNF_GO|id=GO:0030902 |text = hindbrain development}} {{GNF_GO|id=GO:0042592 |text = homeostatic process}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4086
| Hs_Ensembl = ENSG00000170365
| Hs_RefseqProtein = NP_001003688
| Hs_RefseqmRNA = NM_001003688
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 146622401
| Hs_GenLoc_end = 146699773
| Hs_Uniprot = Q15797
| Mm_EntrezGene = 17125
| Mm_Ensembl = ENSMUSG00000031681
| Mm_RefseqmRNA = NM_008539
| Mm_RefseqProtein = NP_032565
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 8
| Mm_GenLoc_start = 82234467
| Mm_GenLoc_end = 82295540
| Mm_Uniprot = Q6GT95
}}
}}
'''SMAD family member 1''', also known as '''SMAD1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed.<ref>{{cite web | title = Entrez Gene: SMAD1 SMAD family member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4086| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Heldin CH, Miyazono K, ten Dijke P |title=TGF-beta signalling from cell membrane to nucleus through SMAD proteins. |journal=Nature |volume=390 |issue= 6659 |pages= 465-71 |year= 1997 |pmid= 9393997 |doi= 10.1038/37284 }}
*{{cite journal | author=Massagué J |title=TGF-beta signal transduction. |journal=Annu. Rev. Biochem. |volume=67 |issue= |pages= 753-91 |year= 1998 |pmid= 9759503 |doi= 10.1146/annurev.biochem.67.1.753 }}
*{{cite journal | author=Verschueren K, Huylebroeck D |title=Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. |journal=Cytokine Growth Factor Rev. |volume=10 |issue= 3-4 |pages= 187-99 |year= 2000 |pmid= 10647776 |doi= }}
*{{cite journal | author=Wrana JL, Attisano L |title=The Smad pathway. |journal=Cytokine Growth Factor Rev. |volume=11 |issue= 1-2 |pages= 5-13 |year= 2000 |pmid= 10708948 |doi= }}
*{{cite journal | author=Miyazono K |title=TGF-beta signaling by Smad proteins. |journal=Cytokine Growth Factor Rev. |volume=11 |issue= 1-2 |pages= 15-22 |year= 2000 |pmid= 10708949 |doi= }}
*{{cite journal | author=Attisano L, Silvestri C, Izzi L, Labbé E |title=The transcriptional role of Smads and FAST (FoxH1) in TGFbeta and activin signalling. |journal=Mol. Cell. Endocrinol. |volume=180 |issue= 1-2 |pages= 3-11 |year= 2001 |pmid= 11451566 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SMARCB1... {November 6, 2007 9:45:50 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:46:36 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
| HGNCid = 11103
| Symbol = SMARCB1
| AltSymbols =; BAF47; INI1; RDT; SNF5; SNF5L1; Sfh1p; Snr1; hSNFS
| OMIM = 601607
| ECnumber =
| Homologene = 2310
| MGIid = 1328366
| GeneAtlas_image1 = PBB_GE_SMARCB1_212167_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0000228 |text = nuclear chromosome}} {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005654 |text = nucleoplasm}} {{GNF_GO|id=GO:0016514 |text = SWI/SNF complex}}
| Process = {{GNF_GO|id=GO:0006338 |text = chromatin remodeling}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0015074 |text = DNA integration}} {{GNF_GO|id=GO:0045090 |text = retroviral genome replication}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6598
| Hs_Ensembl = ENSG00000099956
| Hs_RefseqProtein = NP_001007469
| Hs_RefseqmRNA = NM_001007468
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 22
| Hs_GenLoc_start = 22459150
| Hs_GenLoc_end = 22506701
| Hs_Uniprot = Q12824
| Mm_EntrezGene = 20587
| Mm_Ensembl = ENSMUSG00000000902
| Mm_RefseqmRNA = NM_011418
| Mm_RefseqProtein = NP_035548
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 10
| Mm_GenLoc_start = 75340491
| Mm_GenLoc_end = 75365312
| Mm_Uniprot = Q3UDA4
}}
}}
'''SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1''', also known as '''SMARCB1''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene.<ref>{{cite web | title = Entrez Gene: SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6598| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Miller MD, Bushman FD |title=HIV integration. Ini1 for integration? |journal=Curr. Biol. |volume=5 |issue= 4 |pages= 368-70 |year= 1995 |pmid= 7627549 |doi= }}
*{{cite journal | author=Van Maele B, Debyser Z |title=HIV-1 integration: an interplay between HIV-1 integrase, cellular and viral proteins. |journal=AIDS reviews |volume=7 |issue= 1 |pages= 26-43 |year= 2005 |pmid= 15875659 |doi= }}
*{{cite journal | author=Van Maele B, Busschots K, Vandekerckhove L, ''et al.'' |title=Cellular co-factors of HIV-1 integration. |journal=Trends Biochem. Sci. |volume=31 |issue= 2 |pages= 98-105 |year= 2006 |pmid= 16403635 |doi= 10.1016/j.tibs.2005.12.002 }}
*{{cite journal | author=Judkins AR |title=Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. |journal=Advances in anatomic pathology |volume=14 |issue= 5 |pages= 335-9 |year= 2007 |pmid= 17717433 |doi= 10.1097/PAP.0b013e3180ca8b08 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SREBF1... {November 6, 2007 9:46:36 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein SREBF1 image.jpg {November 6, 2007 9:47:13 PM PST}
- CREATE: Found no pages, creating new page. {November 6, 2007 9:47:23 PM PST}
- CREATED: Created new protein page: SREBF1 {November 6, 2007 9:47:31 PM PST}
- INFO: Beginning work on SRY... {November 6, 2007 9:47:31 PM PST}
- UPLOAD: Added new Image to wiki:
{November 6, 2007 9:48:03 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:48:14 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_SRY_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1hry.
| PDB = {{PDB2|1hry}}, {{PDB2|1hrz}}, {{PDB2|1j46}}, {{PDB2|1j47}}
| Name = Sex determining region Y
| HGNCid = 11311
| Symbol = SRY
| AltSymbols =; TDF; TDY
| OMIM = 480000
| ECnumber =
| Homologene = 48168
| MGIid = 98660
| GeneAtlas_image1 = PBB_GE_SRY_207893_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008301 |text = DNA bending activity}} {{GNF_GO|id=GO:0016563 |text = transcription activator activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007548 |text = sex differentiation}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0030238 |text = male sex determination}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6736
| Hs_Ensembl = ENSG00000184895
| Hs_RefseqProtein = NP_003131
| Hs_RefseqmRNA = NM_003140
| Hs_GenLoc_db =
| Hs_GenLoc_chr = Y
| Hs_GenLoc_start = 2714896
| Hs_GenLoc_end = 2715740
| Hs_Uniprot = Q05066
| Mm_EntrezGene = 21674
| Mm_Ensembl = ENSMUSG00000069036
| Mm_RefseqmRNA = NM_011564
| Mm_RefseqProtein = NP_035694
| Mm_GenLoc_db =
| Mm_GenLoc_chr = Y
| Mm_GenLoc_start = 1947341
| Mm_GenLoc_end = 1948528
| Mm_Uniprot = Q2T9H0
}}
}}
'''Sex determining region Y''', also known as '''SRY''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome.<ref>{{cite web | title = Entrez Gene: SRY sex determining region Y| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6736| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Haqq CM, King CY, Ukiyama E, ''et al.'' |title=Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. |journal=Science |volume=266 |issue= 5190 |pages= 1494-500 |year= 1995 |pmid= 7985018 |doi= }}
*{{cite journal | author=Goodfellow PN, Lovell-Badge R |title=SRY and sex determination in mammals. |journal=Annu. Rev. Genet. |volume=27 |issue= |pages= 71-92 |year= 1994 |pmid= 8122913 |doi= 10.1146/annurev.ge.27.120193.000443 }}
*{{cite journal | author=Hawkins JR |title=Mutational analysis of SRY in XY females. |journal=Hum. Mutat. |volume=2 |issue= 5 |pages= 347-50 |year= 1994 |pmid= 8257986 |doi= 10.1002/humu.1380020504 }}
*{{cite journal | author=Harley VR |title=The molecular action of testis-determining factors SRY and SOX9. |journal=Novartis Found. Symp. |volume=244 |issue= |pages= 57-66; discussion 66-7, 79-85, 253-7 |year= 2002 |pmid= 11990798 |doi= }}
*{{cite journal | author=Jordan BK, Vilain E |title=Sry and the genetics of sex determination. |journal=Adv. Exp. Med. Biol. |volume=511 |issue= |pages= 1-13; discussion 13-4 |year= 2003 |pmid= 12575752 |doi= }}
*{{cite journal | author=Oh HJ, Lau YF |title=KRAB: a partner for SRY action on chromatin. |journal=Mol. Cell. Endocrinol. |volume=247 |issue= 1-2 |pages= 47-52 |year= 2006 |pmid= 16414182 |doi= 10.1016/j.mce.2005.12.011 }}
*{{cite journal | author=Polanco JC, Koopman P |title=Sry and the hesitant beginnings of male development. |journal=Dev. Biol. |volume=302 |issue= 1 |pages= 13-24 |year= 2007 |pmid= 16996051 |doi= 10.1016/j.ydbio.2006.08.049 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TIMP3... {November 6, 2007 9:48:14 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:49:43 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)
| HGNCid = 11822
| Symbol = TIMP3
| AltSymbols =; HSMRK222; K222; K222TA2; SFD
| OMIM = 188826
| ECnumber =
| Homologene = 36322
| MGIid = 98754
| GeneAtlas_image1 = PBB_GE_TIMP3_201149_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_TIMP3_201147_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_TIMP3_201148_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}} {{GNF_GO|id=GO:0004857 |text = enzyme inhibitor activity}} {{GNF_GO|id=GO:0008191 |text = metalloendopeptidase inhibitor activity}}
| Component = {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005604 |text = basement membrane}}
| Process = {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0008624 |text = induction of apoptosis by extracellular signals}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7078
| Hs_Ensembl = ENSG00000100234
| Hs_RefseqProtein = NP_000353
| Hs_RefseqmRNA = NM_000362
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 22
| Hs_GenLoc_start = 31526802
| Hs_GenLoc_end = 31589025
| Hs_Uniprot = P35625
| Mm_EntrezGene = 21859
| Mm_Ensembl = ENSMUSG00000020044
| Mm_RefseqmRNA = NM_011595
| Mm_RefseqProtein = NP_035725
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 10
| Mm_GenLoc_start = 85730336
| Mm_GenLoc_end = 85779307
| Mm_Uniprot = Q54AE5
}}
}}
'''TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)''', also known as '''TIMP3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy.<ref>{{cite web | title = Entrez Gene: TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7078| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Li Z, Clarke MP, Barker MD, McKie N |title=TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. |journal=Expert reviews in molecular medicine |volume=7 |issue= 24 |pages= 1-15 |year= 2007 |pmid= 16259644 |doi= 10.1017/S1462399405010045 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TRAF3... {November 6, 2007 9:49:43 PM PST}
- UPLOAD: Added new Image to wiki: File:PBB Protein TRAF3 image.jpg {November 6, 2007 9:50:14 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:50:29 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_TRAF3_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1flk.
| PDB = {{PDB2|1flk}}, {{PDB2|1fll}}, {{PDB2|1kzz}}, {{PDB2|1l0a}}, {{PDB2|1rf3}}, {{PDB2|1zms}}, {{PDB2|2gkw}}
| Name = TNF receptor-associated factor 3
| HGNCid = 12033
| Symbol = TRAF3
| AltSymbols =; LAP1; CAP-1; CD40bp; CRAF1
| OMIM = 601896
| ECnumber =
| Homologene = 7981
| MGIid = 108041
| GeneAtlas_image1 = PBB_GE_TRAF3_208315_x_at_tn.png
| Function = {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component =
| Process = {{GNF_GO|id=GO:0006917 |text = induction of apoptosis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0042981 |text = regulation of apoptosis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7187
| Hs_Ensembl = ENSG00000131323
| Hs_RefseqProtein = NP_003291
| Hs_RefseqmRNA = NM_003300
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 14
| Hs_GenLoc_start = 102406268
| Hs_GenLoc_end = 102441895
| Hs_Uniprot = Q13114
| Mm_EntrezGene = 22031
| Mm_Ensembl = ENSMUSG00000021277
| Mm_RefseqmRNA = NM_001048206
| Mm_RefseqProtein = NP_001041671
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 12
| Mm_GenLoc_start = 111614356
| Mm_GenLoc_end = 111714956
| Mm_Uniprot = Q60803
}}
}}
'''TNF receptor-associated factor 3''', also known as '''TRAF3''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported.<ref>{{cite web | title = Entrez Gene: TRAF3 TNF receptor-associated factor 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7187| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Wajant H, Henkler F, Scheurich P |title=The TNF-receptor-associated factor family: scaffold molecules for cytokine receptors, kinases and their regulators. |journal=Cell. Signal. |volume=13 |issue= 6 |pages= 389-400 |year= 2001 |pmid= 11384837 |doi= }}
*{{cite journal | author=Bradley JR, Pober JS |title=Tumor necrosis factor receptor-associated factors (TRAFs). |journal=Oncogene |volume=20 |issue= 44 |pages= 6482-91 |year= 2001 |pmid= 11607847 |doi= 10.1038/sj.onc.1204788 }}
*{{cite journal | author=Saha SK, Cheng G |title=TRAF3: a new regulator of type I interferons. |journal=Cell Cycle |volume=5 |issue= 8 |pages= 804-7 |year= 2006 |pmid= 16582590 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TXN... {November 6, 2007 9:50:29 PM PST}
- UPLOAD: Added new Image to wiki:
{November 6, 2007 9:51:00 PM PST}
- AMBIGUITY: Did not locate an acceptable page to update. {November 6, 2007 9:51:14 PM PST}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_TXN_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1aiu.
| PDB = {{PDB2|1aiu}}, {{PDB2|1auc}}, {{PDB2|1cqg}}, {{PDB2|1cqh}}, {{PDB2|1ert}}, {{PDB2|1eru}}, {{PDB2|1erv}}, {{PDB2|1erw}}, {{PDB2|1mdi}}, {{PDB2|1mdj}}, {{PDB2|1mdk}}, {{PDB2|1trs}}, {{PDB2|1tru}}, {{PDB2|1trv}}, {{PDB2|1trw}}, {{PDB2|2hsh}}, {{PDB2|2hxk}}, {{PDB2|2ifq}}, {{PDB2|2iiy}}, {{PDB2|3trx}}, {{PDB2|4trx}}
| Name = Thioredoxin
| HGNCid = 12435
| Symbol = TXN
| AltSymbols =; DKFZp686B1993; MGC61975; TRX
| OMIM = 187700
| ECnumber =
| Homologene = 55732
| MGIid = 98874
| GeneAtlas_image1 = PBB_GE_TXN_208864_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0009055 |text = electron carrier activity}} {{GNF_GO|id=GO:0015035 |text = protein disulfide oxidoreductase activity}} {{GNF_GO|id=GO:0030508 |text = thiol-disulfide exchange intermediate activity}}
| Component =
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}} {{GNF_GO|id=GO:0045454 |text = cell redox homeostasis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7295
| Hs_Ensembl = ENSG00000136810
| Hs_RefseqProtein = NP_003320
| Hs_RefseqmRNA = NM_003329
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 9
| Hs_GenLoc_start = 112045912
| Hs_GenLoc_end = 112058741
| Hs_Uniprot = P10599
| Mm_EntrezGene = 22166
| Mm_Ensembl = ENSMUSG00000028367
| Mm_RefseqmRNA = NM_011660
| Mm_RefseqProtein = NP_035790
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 4
| Mm_GenLoc_start = 58037427
| Mm_GenLoc_end = 58050345
| Mm_Uniprot = P10639
}}
}}
'''Thioredoxin''', also known as '''TXN''', is a human [[gene]].
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
| summary_text = Thioredoxin is a 12-kD oxidoreductase enzyme containing a dithiol-disulfide active site. It is ubiquitous and found in many organisms from plants and bacteria to mammals. Multiple in vitro substrates for thioredoxin have been identified, including ribonuclease, choriogonadotropins, coagulation factors, glucocorticoid receptor, and insulin. Reduction of insulin is classically used as an activity test.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: TXN thioredoxin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7295| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Arnér ES, Holmgren A |title=Physiological functions of thioredoxin and thioredoxin reductase. |journal=Eur. J. Biochem. |volume=267 |issue= 20 |pages= 6102-9 |year= 2000 |pmid= 11012661 |doi= }}
*{{cite journal | author=Nishinaka Y, Masutani H, Nakamura H, Yodoi J |title=Regulatory roles of thioredoxin in oxidative stress-induced cellular responses. |journal=Redox Rep. |volume=6 |issue= 5 |pages= 289-95 |year= 2002 |pmid= 11778846 |doi= }}
*{{cite journal | author=Ago T, Sadoshima J |title=Thioredoxin and ventricular remodeling. |journal=J. Mol. Cell. Cardiol. |volume=41 |issue= 5 |pages= 762-73 |year= 2007 |pmid= 17007870 |doi= 10.1016/j.yjmcc.2006.08.006 }}
}}
{{refend}}
{{protein-stub}}
end log.
