Log page index: User:ProteinBoxBot/PBB_Log_Index
Protein Status Quick Log - Date: 21:03, 3 November 2007 (UTC)
[edit]Proteins without matches (16)
[edit]Proteins with a High Potential Match (8)
[edit]Redirected Proteins (1)
[edit]Manual Inspection (Page not found) (19)
[edit]
Protein Status Grid - Date: 21:03, 3 November 2007 (UTC)
[edit]Vebose Log - Date: 21:03, 3 November 2007 (UTC)
[edit]- INFO: Beginning work on ABCC1... {November 3, 2007 1:48:59 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein ABCC1 image.jpg {November 3, 2007 1:50:12 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:50:37 PM PDT}
<!-- 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_ABCC1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2cbz.
| PDB = {{PDB2|2cbz}}
| Name = ATP-binding cassette, sub-family C (CFTR/MRP), member 1
| HGNCid = 51
| Symbol = ABCC1
| AltSymbols =; MRP1; ABC29; ABCC; DKFZp686N04233; DKFZp781G125; GS-X; MRP
| OMIM = 158343
| ECnumber =
| Homologene = 55459
| MGIid = 102676
| GeneAtlas_image1 = PBB_GE_ABCC1_202804_at_tn.png
| GeneAtlas_image2 = PBB_GE_ABCC1_202805_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016301 |text = kinase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042626 |text = ATPase activity, coupled to transmembrane movement of substances}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0042493 |text = response to drug}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4363
| Hs_Ensembl = ENSG00000103222
| Hs_RefseqProtein = NP_004987
| Hs_RefseqmRNA = NM_004996
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 16
| Hs_GenLoc_start = 16009174
| Hs_GenLoc_end = 16142883
| Hs_Uniprot = P33527
| Mm_EntrezGene = 17250
| Mm_Ensembl = ENSMUSG00000023088
| Mm_RefseqmRNA = NM_008576
| Mm_RefseqProtein = NP_032602
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 16
| Mm_GenLoc_start = 14275138
| Mm_GenLoc_end = 14388453
| Mm_Uniprot = Q3UDM1
}}
}}
'''ATP-binding cassette, sub-family C (CFTR/MRP), member 1''', also known as '''ABCC1''', 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 superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternative splicing by exon deletion results in several splice variants but maintains the original open reading frame in all forms.<ref>{{cite web | title = Entrez Gene: ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4363| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Lautier D, Canitrot Y, Deeley RG, Cole SP |title=Multidrug resistance mediated by the multidrug resistance protein (MRP) gene. |journal=Biochem. Pharmacol. |volume=52 |issue= 7 |pages= 967-77 |year= 1996 |pmid= 8831715 |doi= }}
*{{cite journal | author=Deeley RG, Cole SP |title=Function, evolution and structure of multidrug resistance protein (MRP). |journal=Semin. Cancer Biol. |volume=8 |issue= 3 |pages= 193-204 |year= 1998 |pmid= 9441948 |doi= 10.1006/scbi.1997.0070 }}
*{{cite journal | author=Hegedus T, Orfi L, Seprodi A, ''et al.'' |title=Interaction of tyrosine kinase inhibitors with the human multidrug transporter proteins, MDR1 and MRP1. |journal=Biochim. Biophys. Acta |volume=1587 |issue= 2-3 |pages= 318-25 |year= 2002 |pmid= 12084474 |doi= }}
*{{cite journal | author=Chang XB |title=A molecular understanding of ATP-dependent solute transport by multidrug resistance-associated protein MRP1. |journal=Cancer Metastasis Rev. |volume=26 |issue= 1 |pages= 15-37 |year= 2007 |pmid= 17295059 |doi= 10.1007/s10555-007-9041-7 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on APEX1... {November 3, 2007 1:32:29 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein APEX1 image.jpg {November 3, 2007 1:33:05 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:34:29 PM PDT}
<!-- 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_APEX1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1bix.
| PDB = {{PDB2|1bix}}, {{PDB2|1de8}}, {{PDB2|1de9}}, {{PDB2|1dew}}, {{PDB2|1e9n}}, {{PDB2|1hd7}}, {{PDB2|2isi}}
| Name = APEX nuclease (multifunctional DNA repair enzyme) 1
| HGNCid = 587
| Symbol = APEX1
| AltSymbols =; APE; APE1; APEN; APEX; APX; HAP1; REF-1; REF1
| OMIM = 107748
| ECnumber =
| Homologene = 1241
| MGIid = 88042
| GeneAtlas_image1 = PBB_GE_APEX1_210027_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003713 |text = transcription coactivator activity}} {{GNF_GO|id=GO:0003714 |text = transcription corepressor activity}} {{GNF_GO|id=GO:0003906 |text = DNA-(apurinic or apyrimidinic site) lyase activity}} {{GNF_GO|id=GO:0004520 |text = endodeoxyribonuclease activity}} {{GNF_GO|id=GO:0004523 |text = ribonuclease H activity}} {{GNF_GO|id=GO:0004528 |text = phosphodiesterase I activity}} {{GNF_GO|id=GO:0004844 |text = uracil DNA N-glycosylase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008408 |text = 3'-5' exonuclease activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0016829 |text = lyase activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005840 |text = ribosome}} {{GNF_GO|id=GO:0048471 |text = perinuclear region of cytoplasm}}
| Process = {{GNF_GO|id=GO:0006284 |text = base-excision repair}} {{GNF_GO|id=GO:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0030503 |text = regulation of cell redox homeostasis}} {{GNF_GO|id=GO:0051101 |text = regulation of DNA binding}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 328
| Hs_Ensembl = ENSG00000100823
| Hs_RefseqProtein = NP_001632
| Hs_RefseqmRNA = NM_001641
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 14
| Hs_GenLoc_start = 19993130
| Hs_GenLoc_end = 19995765
| Hs_Uniprot = P27695
| Mm_EntrezGene = 11792
| Mm_Ensembl = ENSMUSG00000035960
| Mm_RefseqmRNA = NM_009687
| Mm_RefseqProtein = NP_033817
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 14
| Mm_GenLoc_start = 49846929
| Mm_GenLoc_end = 49849089
| Mm_Uniprot = Q544Z7
}}
}}
'''APEX nuclease (multifunctional DNA repair enzyme) 1''', also known as '''APEX1''', 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 = Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein.<ref>{{cite web | title = Entrez Gene: APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=328| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Mol CD, Hosfield DJ, Tainer JA |title=Abasic site recognition by two apurinic/apyrimidinic endonuclease families in DNA base excision repair: the 3' ends justify the means. |journal=Mutat. Res. |volume=460 |issue= 3-4 |pages= 211-29 |year= 2000 |pmid= 10946230 |doi= }}
*{{cite journal | author=Fritz G |title=Human APE/Ref-1 protein. |journal=Int. J. Biochem. Cell Biol. |volume=32 |issue= 9 |pages= 925-9 |year= 2000 |pmid= 11084372 |doi= }}
*{{cite journal | author=Fritz G, Grösch S, Tomicic M, Kaina B |title=APE/Ref-1 and the mammalian response to genotoxic stress. |journal=Toxicology |volume=193 |issue= 1-2 |pages= 67-78 |year= 2003 |pmid= 14599768 |doi= }}
*{{cite journal | author=Tell G, Damante G, Caldwell D, Kelley MR |title=The intracellular localization of APE1/Ref-1: more than a passive phenomenon? |journal=Antioxid. Redox Signal. |volume=7 |issue= 3-4 |pages= 367-84 |year= 2005 |pmid= 15706084 |doi= 10.1089/ars.2005.7.367 }}
*{{cite journal | author=Hung RJ, Hall J, Brennan P, Boffetta P |title=Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. |journal=Am. J. Epidemiol. |volume=162 |issue= 10 |pages= 925-42 |year= 2006 |pmid= 16221808 |doi= 10.1093/aje/kwi318 }}
*{{cite journal | author=Dyrkheeva NS, Khodyreva SN, Lavrik OI |title=[Multifunctional human apurinic/apyrimidinic endonuclease 1: the role of additional functions] |journal=Mol. Biol. (Mosk.) |volume=41 |issue= 3 |pages= 450-66 |year= 2007 |pmid= 17685223 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on BACE1... {November 3, 2007 2:00:57 PM PDT}
- UPLOAD: Added new Image to wiki:
{November 3, 2007 2:01:39 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:03:18 PM PDT}
<!-- 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_BACE1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1fkn.
| PDB = {{PDB2|1fkn}}, {{PDB2|1m4h}}, {{PDB2|1sgz}}, {{PDB2|1tqf}}, {{PDB2|1w50}}, {{PDB2|1w51}}, {{PDB2|1xn2}}, {{PDB2|1xn3}}, {{PDB2|1xs7}}, {{PDB2|1ym2}}, {{PDB2|1ym4}}, {{PDB2|2b8l}}, {{PDB2|2b8v}}, {{PDB2|2f3e}}, {{PDB2|2f3f}}, {{PDB2|2fdp}}, {{PDB2|2g94}}, {{PDB2|2hiz}}, {{PDB2|2hm1}}, {{PDB2|2iqg}}, {{PDB2|2irz}}, {{PDB2|2is0}}, {{PDB2|2of0}}, {{PDB2|2ohk}}, {{PDB2|2ohl}}, {{PDB2|2ohm}}, {{PDB2|2ohn}}, {{PDB2|2ohp}}, {{PDB2|2ohq}}, {{PDB2|2ohr}}, {{PDB2|2ohs}}, {{PDB2|2oht}}, {{PDB2|2ohu}}, {{PDB2|2ph6}}
| Name = Beta-site APP-cleaving enzyme 1
| HGNCid = 933
| Symbol = BACE1
| AltSymbols =; ASP2; BACE; FLJ90568; HSPC104; KIAA1149
| OMIM = 604252
| ECnumber =
| Homologene = 8014
| MGIid = 1346542
| GeneAtlas_image1 = PBB_GE_BACE1_217904_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004194 |text = pepsin A activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}} {{GNF_GO|id=GO:0008798 |text = beta-aspartyl-peptidase activity}} {{GNF_GO|id=GO:0009049 |text = aspartic-type signal peptidase activity}}
| Component = {{GNF_GO|id=GO:0005768 |text = endosome}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0030424 |text = axon}} {{GNF_GO|id=GO:0031410 |text = cytoplasmic vesicle}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0006509 |text = membrane protein ectodomain proteolysis}} {{GNF_GO|id=GO:0050435 |text = beta-amyloid metabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 23621
| Hs_Ensembl = ENSG00000186318
| Hs_RefseqProtein = NP_036236
| Hs_RefseqmRNA = NM_012104
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 116661627
| Hs_GenLoc_end = 116692182
| Hs_Uniprot = P56817
| Mm_EntrezGene = 23821
| Mm_Ensembl = ENSMUSG00000032086
| Mm_RefseqmRNA = NM_011792
| Mm_RefseqProtein = NP_035922
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 45589575
| Mm_GenLoc_end = 45613479
| Mm_Uniprot = Q69ZQ6
}}
}}
'''Beta-site APP-cleaving enzyme 1''', also known as '''BACE1''', 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 = Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease. Amyloid beta peptide is generated by proteolytic cleavage of amyloid precursor protein (APP) by two proteases, one of which is the protein encoded by this gene. The encoded protein, a member of the peptidase A1 protein family, is a type I integral membrane glycoprotein and aspartic protease that is found mainly in the Golgi. Four transcript variants encoding different isoforms have been described for this gene.<ref>{{cite web | title = Entrez Gene: BACE1 beta-site APP-cleaving enzyme 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23621| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Hong L, He X, Huang X, ''et al.'' |title=Structural features of human memapsin 2 (beta-secretase) and their biological and pathological implications. |journal=Acta Biochim. Biophys. Sin. (Shanghai) |volume=36 |issue= 12 |pages= 787-92 |year= 2005 |pmid= 15592644 |doi= }}
*{{cite journal | author=Johnston JA, Liu WW, Todd SA, ''et al.'' |title=Expression and activity of beta-site amyloid precursor protein cleaving enzyme in Alzheimer's disease. |journal=Biochem. Soc. Trans. |volume=33 |issue= Pt 5 |pages= 1096-100 |year= 2006 |pmid= 16246054 |doi= 10.1042/BST20051096 }}
*{{cite journal | author=Dominguez DI, Hartmann D, De Strooper B |title=BACE1 and presenilin: two unusual aspartyl proteases involved in Alzheimer's disease. |journal=Neuro-degenerative diseases |volume=1 |issue= 4-5 |pages= 168-74 |year= 2006 |pmid= 16908986 |doi= 10.1159/000080982 }}
*{{cite journal | author=Zacchetti D, Chieregatti E, Bettegazzi B, ''et al.'' |title=BACE1 expression and activity: relevance in Alzheimer's disease. |journal=Neuro-degenerative diseases |volume=4 |issue= 2-3 |pages= 117-26 |year= 2007 |pmid= 17596706 |doi= 10.1159/000101836 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on BMP2... {November 3, 2007 1:36:01 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein BMP2 image.jpg {November 3, 2007 1:37:07 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:37:17 PM PDT}
<!-- 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_BMP2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1es7.
| PDB = {{PDB2|1es7}}, {{PDB2|1reu}}, {{PDB2|1rew}}, {{PDB2|2goo}}, {{PDB2|2h62}}, {{PDB2|2h64}}, {{PDB2|3bmp}}
| Name = Bone morphogenetic protein 2
| HGNCid = 1069
| Symbol = BMP2
| AltSymbols =; BMP2A
| OMIM = 112261
| ECnumber =
| Homologene = 926
| MGIid = 88177
| GeneAtlas_image1 = PBB_GE_BMP2_205289_at_tn.png
| GeneAtlas_image2 = PBB_GE_BMP2_205290_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005125 |text = cytokine activity}} {{GNF_GO|id=GO:0008083 |text = growth factor activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}}
| Process = {{GNF_GO|id=GO:0001649 |text = osteoblast differentiation}} {{GNF_GO|id=GO:0001658 |text = ureteric bud branching}} {{GNF_GO|id=GO:0001837 |text = epithelial to mesenchymal transition}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0008285 |text = negative regulation of cell proliferation}} {{GNF_GO|id=GO:0009790 |text = embryonic development}} {{GNF_GO|id=GO:0009887 |text = organ morphogenesis}} {{GNF_GO|id=GO:0030282 |text = bone mineralization}} {{GNF_GO|id=GO:0030509 |text = BMP signaling pathway}} {{GNF_GO|id=GO:0035051 |text = cardiac cell differentiation}} {{GNF_GO|id=GO:0040007 |text = growth}} {{GNF_GO|id=GO:0042475 |text = odontogenesis (sensu Vertebrata)}} {{GNF_GO|id=GO:0045165 |text = cell fate commitment}} {{GNF_GO|id=GO:0045449 |text = regulation of transcription}} {{GNF_GO|id=GO:0045669 |text = positive regulation of osteoblast differentiation}} {{GNF_GO|id=GO:0045778 |text = positive regulation of ossification}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}} {{GNF_GO|id=GO:0048711 |text = positive regulation of astrocyte differentiation}} {{GNF_GO|id=GO:0051216 |text = cartilage development}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 650
| Hs_Ensembl = ENSG00000125845
| Hs_RefseqProtein = NP_001191
| Hs_RefseqmRNA = NM_001200
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 20
| Hs_GenLoc_start = 6696311
| Hs_GenLoc_end = 6708927
| Hs_Uniprot = P12643
| Mm_EntrezGene = 12156
| Mm_Ensembl = ENSMUSG00000027358
| Mm_RefseqmRNA = NM_007553
| Mm_RefseqProtein = NP_031579
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 133244640
| Mm_GenLoc_end = 133254326
| Mm_Uniprot = Q3V1I4
}}
}}
'''Bone morphogenetic protein 2''', also known as '''BMP2''', 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 transforming growth factor-beta (TGFB) superfamily. The encoded protein acts as a disulfide-linked homodimer and induces bone and cartilage formation.<ref>{{cite web | title = Entrez Gene: BMP2 bone morphogenetic protein 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=650| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Nickel J, Dreyer MK, Kirsch T, Sebald W |title=The crystal structure of the BMP-2:BMPR-IA complex and the generation of BMP-2 antagonists. |journal=The Journal of bone and joint surgery. American volume |volume=83-A Suppl 1 |issue= Pt 1 |pages= S7-14 |year= 2001 |pmid= 11263668 |doi= }}
*{{cite journal | author=Kawamura C, Kizaki M, Ikeda Y |title=Bone morphogenetic protein (BMP)-2 induces apoptosis in human myeloma cells. |journal=Leuk. Lymphoma |volume=43 |issue= 3 |pages= 635-9 |year= 2003 |pmid= 12002771 |doi= }}
*{{cite journal | author=Marie PJ, Debiais F, Haÿ E |title=Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling. |journal=Histol. Histopathol. |volume=17 |issue= 3 |pages= 877-85 |year= 2003 |pmid= 12168799 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on CHEK1... {November 3, 2007 1:37:17 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein CHEK1 image.jpg {November 3, 2007 1:38:29 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 1:38:39 PM PDT}
- CREATED: Created new protein page: CHEK1 {November 3, 2007 1:38:46 PM PDT}
- INFO: Beginning work on CTGF... {November 3, 2007 1:38:47 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:39:29 PM PDT}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
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| 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 =
| image_source =
| PDB =
| Name = Connective tissue growth factor
| HGNCid = 2500
| Symbol = CTGF
| AltSymbols =; CCN2; HCS24; IGFBP8; MGC102839; NOV2
| OMIM = 121009
| ECnumber =
| Homologene = 1431
| MGIid = 95537
| GeneAtlas_image1 = PBB_GE_CTGF_209101_at_tn.png
| Function = {{GNF_GO|id=GO:0005178 |text = integrin binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005520 |text = insulin-like growth factor binding}} {{GNF_GO|id=GO:0008201 |text = heparin binding}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005578 |text = proteinaceous extracellular matrix}} {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005625 |text = soluble fraction}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0001502 |text = cartilage condensation}} {{GNF_GO|id=GO:0001503 |text = ossification}} {{GNF_GO|id=GO:0001525 |text = angiogenesis}} {{GNF_GO|id=GO:0001558 |text = regulation of cell growth}} {{GNF_GO|id=GO:0006260 |text = DNA replication}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007160 |text = cell-matrix adhesion}} {{GNF_GO|id=GO:0007229 |text = integrin-mediated signaling pathway}} {{GNF_GO|id=GO:0008543 |text = fibroblast growth factor receptor signaling pathway}} {{GNF_GO|id=GO:0008544 |text = epidermis development}} {{GNF_GO|id=GO:0009611 |text = response to wounding}} {{GNF_GO|id=GO:0016477 |text = cell migration}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 1490
| Hs_Ensembl = ENSG00000118523
| Hs_RefseqProtein = NP_001892
| Hs_RefseqmRNA = NM_001901
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 6
| Hs_GenLoc_start = 132311009
| Hs_GenLoc_end = 132314206
| Hs_Uniprot = P29279
| Mm_EntrezGene = 14219
| Mm_Ensembl = ENSMUSG00000019997
| Mm_RefseqmRNA = NM_010217
| Mm_RefseqProtein = NP_034347
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 10
| Mm_GenLoc_start = 24284923
| Mm_GenLoc_end = 24288096
| Mm_Uniprot = Q91V29
}}
}}
'''Connective tissue growth factor''', also known as '''CTGF''', 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=Brigstock DR |title=The connective tissue growth factor/cysteine-rich 61/nephroblastoma overexpressed (CCN) family. |journal=Endocr. Rev. |volume=20 |issue= 2 |pages= 189-206 |year= 1999 |pmid= 10204117 |doi= }}
*{{cite journal | author=Abdel Wahab N, Mason RM |title=Connective tissue growth factor and renal diseases: some answers, more questions. |journal=Curr. Opin. Nephrol. Hypertens. |volume=13 |issue= 1 |pages= 53-8 |year= 2004 |pmid= 15090860 |doi= }}
*{{cite journal | author=Leask A |title=Transcriptional profiling of the scleroderma fibroblast reveals a potential role for connective tissue growth factor (CTGF) in pathological fibrosis. |journal=The Keio journal of medicine |volume=53 |issue= 2 |pages= 74-7 |year= 2004 |pmid= 15247510 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on FHIT... {November 3, 2007 1:39:29 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein FHIT image.jpg {November 3, 2007 1:39:59 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 1:40:11 PM PDT}
- CREATED: Created new protein page: FHIT {November 3, 2007 1:40:19 PM PDT}
- INFO: Beginning work on FLNA... {November 3, 2007 1:40:19 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein FLNA image.jpg {November 3, 2007 1:41:31 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:42:09 PM PDT}
<!-- 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_FLNA_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2aav.
| PDB = {{PDB2|2aav}}, {{PDB2|2bp3}}, {{PDB2|2brq}}
| Name = Filamin A, alpha (actin binding protein 280)
| HGNCid = 3754
| Symbol = FLNA
| AltSymbols =; ABP-280; ABPX; DKFZp434P031; FLN; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; filamin A
| OMIM = 300017
| ECnumber =
| Homologene = 1119
| MGIid =
| GeneAtlas_image1 = PBB_GE_FLNA_213746_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_FLNA_200859_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_FLNA_214752_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0008134 |text = transcription factor binding}} {{GNF_GO|id=GO:0051015 |text = actin filament binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}}
| Process = {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0007166 |text = cell surface receptor linked signal transduction}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0042993 |text = positive regulation of transcription factor import into nucleus}} {{GNF_GO|id=GO:0043123 |text = positive regulation of I-kappaB kinase/NF-kappaB cascade}} {{GNF_GO|id=GO:0043433 |text = negative regulation of transcription factor activity}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2316
| Hs_Ensembl = ENSG00000196924
| Hs_RefseqProtein = NP_001447
| Hs_RefseqmRNA = NM_001456
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 153230088
| Hs_GenLoc_end = 153256188
| Hs_Uniprot = P21333
| Mm_EntrezGene =
| Mm_Ensembl =
| Mm_RefseqmRNA =
| Mm_RefseqProtein =
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Filamin A, alpha (actin binding protein 280)''', also known as '''FLNA''', 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 = Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.[supplied by OMIM]<ref>{{cite web | title = Entrez Gene: FLNA filamin A, alpha (actin binding protein 280)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2316| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Stossel TP, Condeelis J, Cooley L, ''et al.'' |title=Filamins as integrators of cell mechanics and signalling. |journal=Nat. Rev. Mol. Cell Biol. |volume=2 |issue= 2 |pages= 138-45 |year= 2001 |pmid= 11252955 |doi= 10.1038/35052082 }}
*{{cite journal | author=van der Flier A, Sonnenberg A |title=Structural and functional aspects of filamins. |journal=Biochim. Biophys. Acta |volume=1538 |issue= 2-3 |pages= 99-117 |year= 2001 |pmid= 11336782 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on GAPDH... {November 3, 2007 1:42:09 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein GAPDH image.jpg {November 3, 2007 1:44:10 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:44:27 PM PDT}
<!-- 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_GAPDH_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1j0x.
| PDB = {{PDB2|1j0x}}, {{PDB2|1u8f}}, {{PDB2|1znq}}
| Name = Glyceraldehyde-3-phosphate dehydrogenase
| HGNCid = 4141
| Symbol = GAPDH
| AltSymbols =; G3PD; GAPD; MGC88685
| OMIM = 138400
| ECnumber =
| Homologene = 81613
| MGIid = 3646088
| GeneAtlas_image1 = PBB_GE_GAPDH_212581_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_GAPDH_213453_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_GAPDH_217398_x_at_tn.png
| Function = {{GNF_GO|id=GO:0004365 |text = glyceraldehyde-3-phosphate dehydrogenase (phosphorylating) activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0051287 |text = NAD binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006006 |text = glucose metabolic process}} {{GNF_GO|id=GO:0006096 |text = glycolysis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 2597
| Hs_Ensembl = ENSG00000111640
| Hs_RefseqProtein = NP_002037
| Hs_RefseqmRNA = NM_002046
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 12
| Hs_GenLoc_start = 6513872
| Hs_GenLoc_end = 6517780
| Hs_Uniprot = P04406
| Mm_EntrezGene = 622339
| Mm_Ensembl =
| Mm_RefseqmRNA = NM_001081297
| Mm_RefseqProtein = NP_001074766
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Glyceraldehyde-3-phosphate dehydrogenase''', also known as '''GAPDH''', 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 = Glyceraldehyde-3-phosphate dehydrogenase catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The enzyme exists as a tetramer of identical chains. A GAPD pseudogene has been mapped to Xp21-p11 and 15 GAPD-like loci have been identified.<ref>{{cite web | title = Entrez Gene: GAPDH glyceraldehyde-3-phosphate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2597| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Mazzola JL, Sirover MA |title=Alteration of intracellular structure and function of glyceraldehyde-3-phosphate dehydrogenase: a common phenotype of neurodegenerative disorders? |journal=Neurotoxicology |volume=23 |issue= 4-5 |pages= 603-9 |year= 2002 |pmid= 12428732 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on HBG2... {November 3, 2007 1:44:27 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein HBG2 image.jpg {November 3, 2007 1:44:41 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:44:51 PM PDT}
<!-- 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_HBG2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1fdh.
| PDB = {{PDB2|1fdh}}, {{PDB2|1i3d}}, {{PDB2|1i3e}}
| Name = Hemoglobin, gamma G
| HGNCid = 4832
| Symbol = HBG2
| AltSymbols =;
| OMIM = 142250
| ECnumber =
| Homologene = 88327
| MGIid =
| Function = {{GNF_GO|id=GO:0005344 |text = oxygen transporter activity}} {{GNF_GO|id=GO:0005506 |text = iron ion binding}} {{GNF_GO|id=GO:0019825 |text = oxygen binding}} {{GNF_GO|id=GO:0020037 |text = heme binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005833 |text = hemoglobin complex}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0015671 |text = oxygen transport}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3048
| Hs_Ensembl =
| Hs_RefseqProtein = NP_000175
| Hs_RefseqmRNA = NM_000184
| Hs_GenLoc_db =
| Hs_GenLoc_chr =
| Hs_GenLoc_start =
| Hs_GenLoc_end =
| Hs_Uniprot =
| Mm_EntrezGene =
| Mm_Ensembl =
| Mm_RefseqmRNA =
| Mm_RefseqProtein =
| Mm_GenLoc_db =
| Mm_GenLoc_chr =
| Mm_GenLoc_start =
| Mm_GenLoc_end =
| Mm_Uniprot =
}}
}}
'''Hemoglobin, gamma G''', also known as '''HBG2''', 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 gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'- epsilon -- gamma-G -- gamma-A -- delta -- beta--3'.<ref>{{cite web | title = Entrez Gene: HBG2 hemoglobin, gamma G| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3048| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Gelinas R, Yagi M, Endlich B, ''et al.'' |title=Sequences of G gamma, A gamma, and beta genes of the Greek (A gamma) HPFH mutant: evidence for a distal CCAAT box mutation in the A gamma gene. |journal=Prog. Clin. Biol. Res. |volume=191 |issue= |pages= 125-39 |year= 1985 |pmid= 2413469 |doi= }}
*{{cite journal | author=Higgs DR, Vickers MA, Wilkie AO, ''et al.'' |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081-104 |year= 1989 |pmid= 2649166 |doi= }}
*{{cite journal | author=Anderson NL, Anderson NG |title=The human plasma proteome: history, character, and diagnostic prospects. |journal=Mol. Cell Proteomics |volume=1 |issue= 11 |pages= 845-67 |year= 2003 |pmid= 12488461 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on IL15... {November 3, 2007 1:44:51 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:45:49 PM PDT}
<!-- 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 = Interleukin 15
| HGNCid = 5977
| Symbol = IL15
| AltSymbols =; IL-15; MGC9721
| OMIM = 600554
| ECnumber =
| Homologene = 487
| MGIid = 103014
| GeneAtlas_image1 = PBB_GE_IL15_205992_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_IL15_217371_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005126 |text = hematopoietin/interferon-class (D200-domain) cytokine receptor binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}} {{GNF_GO|id=GO:0005615 |text = extracellular space}} {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005768 |text = endosome}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0001866 |text = NK T cell proliferation}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0042102 |text = positive regulation of T cell proliferation}} {{GNF_GO|id=GO:0045062 |text = extrathymic T cell selection}} {{GNF_GO|id=GO:0045580 |text = regulation of T cell differentiation}} {{GNF_GO|id=GO:0048535 |text = lymph node development}} {{GNF_GO|id=GO:0050691 |text = regulation of antiviral response by host}} {{GNF_GO|id=GO:0050778 |text = positive regulation of immune response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 3600
| Hs_Ensembl = ENSG00000164136
| Hs_RefseqProtein = NP_000576
| Hs_RefseqmRNA = NM_000585
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 4
| Hs_GenLoc_start = 142777204
| Hs_GenLoc_end = 142874061
| Hs_Uniprot = P40933
| Mm_EntrezGene = 16168
| Mm_Ensembl = ENSMUSG00000031712
| Mm_RefseqmRNA = NM_008357
| Mm_RefseqProtein = NP_032383
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 8
| Mm_GenLoc_start = 85227661
| Mm_GenLoc_end = 85240228
| Mm_Uniprot = Q1AHQ6
}}
}}
'''Interleukin 15''', also known as '''IL15''', 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 cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each other's activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported.<ref>{{cite web | title = Entrez Gene: IL15 interleukin 15| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3600| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Maślińska D |title=The cytokine network and interleukin-15 (IL-15) in brain development. |journal=Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences |volume=39 |issue= 2 |pages= 43-7 |year= 2001 |pmid= 11680634 |doi= }}
*{{cite journal | author=Liew FY, McInnes IB |title=Role of interleukin 15 and interleukin 18 in inflammatory response. |journal=Ann. Rheum. Dis. |volume=61 Suppl 2 |issue= |pages= ii100-2 |year= 2002 |pmid= 12379638 |doi= }}
*{{cite journal | author=Lodolce JP, Burkett PR, Koka RM, ''et al.'' |title=Regulation of lymphoid homeostasis by interleukin-15. |journal=Cytokine Growth Factor Rev. |volume=13 |issue= 6 |pages= 429-39 |year= 2003 |pmid= 12401478 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on KLK3... {November 3, 2007 1:34:29 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:36:01 PM PDT}
<!-- 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 = Kallikrein-related peptidase 3
| HGNCid = 6364
| Symbol = KLK3
| AltSymbols =; APS; KLK2A1; PSA; hK3
| OMIM = 176820
| ECnumber =
| Homologene = 84789
| MGIid = 892021
| GeneAtlas_image1 = PBB_GE_KLK3_204582_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_KLK3_204583_x_at_tn.png
| Function = {{GNF_GO|id=GO:0004252 |text = serine-type endopeptidase activity}} {{GNF_GO|id=GO:0008233 |text = peptidase activity}}
| Component = {{GNF_GO|id=GO:0005576 |text = extracellular region}}
| Process = {{GNF_GO|id=GO:0006508 |text = proteolysis}} {{GNF_GO|id=GO:0016525 |text = negative regulation of angiogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 354
| Hs_Ensembl = ENSG00000142515
| Hs_RefseqProtein = NP_001025218
| Hs_RefseqmRNA = NM_001030047
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 19
| Hs_GenLoc_start = 56049983
| Hs_GenLoc_end = 56055832
| Hs_Uniprot = P07288
| Mm_EntrezGene = 16617
| Mm_Ensembl = ENSMUSG00000063713
| Mm_RefseqmRNA = XM_001000656
| Mm_RefseqProtein = XP_001000656
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 7
| Mm_GenLoc_start = 44056315
| Mm_GenLoc_end = 44060494
| Mm_Uniprot = O35307
}}
}}
'''Kallikrein-related peptidase 3''', also known as '''KLK3''', 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 = Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its protein product is a protease present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. Serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms.<ref>{{cite web | title = Entrez Gene: KLK3 kallikrein-related peptidase 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=354| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Henttu P, Vihko P |title=Prostate-specific antigen and human glandular kallikrein: two kallikreins of the human prostate. |journal=Ann. Med. |volume=26 |issue= 3 |pages= 157-64 |year= 1994 |pmid= 7521173 |doi= }}
*{{cite journal | author=Diamandis EP, Yousef GM, Luo LY, ''et al.'' |title=The new human kallikrein gene family: implications in carcinogenesis. |journal=Trends Endocrinol. Metab. |volume=11 |issue= 2 |pages= 54-60 |year= 2001 |pmid= 10675891 |doi= }}
*{{cite journal | author=Lilja H |title=Biology of prostate-specific antigen. |journal=Urology |volume=62 |issue= 5 Suppl 1 |pages= 27-33 |year= 2003 |pmid= 14607215 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on KPNA2... {November 3, 2007 1:45:49 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein KPNA2 image.jpg {November 3, 2007 1:46:03 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 1:46:20 PM PDT}
- CREATED: Created new protein page: KPNA2 {November 3, 2007 1:46:28 PM PDT}
- INFO: Beginning work on MLL... {November 3, 2007 1:46:28 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein MLL image.jpg {November 3, 2007 1:48:20 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:48:59 PM PDT}
<!-- 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_MLL_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2j2s.
| PDB = {{PDB2|2j2s}}
| Name = Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
| HGNCid = 7132
| Symbol = MLL
| AltSymbols =; ALL-1; CXXC7; HRX; HTRX1; MLL/GAS7; MLL1A; TRX1
| OMIM = 159555
| ECnumber =
| Homologene = 4338
| MGIid = 96995
| GeneAtlas_image1 = PBB_GE_MLL_212080_at_tn.png
| GeneAtlas_image2 = PBB_GE_MLL_212076_at_tn.png
| GeneAtlas_image3 = PBB_GE_MLL_212078_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:0003702 |text = RNA polymerase II transcription factor activity}} {{GNF_GO|id=GO:0004672 |text = protein kinase 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:0042803 |text = protein homodimerization activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| 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:0006366 |text = transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006461 |text = protein complex assembly}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0035162 |text = embryonic hemopoiesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4297
| Hs_Ensembl = ENSG00000118058
| Hs_RefseqProtein = NP_005924
| Hs_RefseqmRNA = NM_005933
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 117812415
| Hs_GenLoc_end = 117901146
| Hs_Uniprot = Q03164
| Mm_EntrezGene = 214162
| Mm_Ensembl = ENSMUSG00000002028
| Mm_RefseqmRNA = XM_110671
| Mm_RefseqProtein = XP_110671
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 44554359
| Mm_GenLoc_end = 44631971
| Mm_Uniprot = Q5DTR3
}}
}}
'''Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)''', also known as '''MLL''', 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=Marschalek R, Nilson I, Löchner K, ''et al.'' |title=The structure of the human ALL-1/MLL/HRX gene. |journal=Leuk. Lymphoma |volume=27 |issue= 5-6 |pages= 417-28 |year= 1998 |pmid= 9477123 |doi= }}
*{{cite journal | author=Eguchi M, Eguchi-Ishimae M, Greaves M |title=The role of the MLL gene in infant leukemia. |journal=Int. J. Hematol. |volume=78 |issue= 5 |pages= 390-401 |year= 2004 |pmid= 14704031 |doi= }}
*{{cite journal | author=Daser A, Rabbitts TH |title=Extending the repertoire of the mixed-lineage leukemia gene MLL in leukemogenesis. |journal=Genes Dev. |volume=18 |issue= 9 |pages= 965-74 |year= 2004 |pmid= 15132992 |doi= 10.1101/gad.1195504 }}
*{{cite journal | author=Li ZY, Liu DP, Liang CC |title=New insight into the molecular mechanisms of MLL-associated leukemia. |journal=Leukemia |volume=19 |issue= 2 |pages= 183-90 |year= 2005 |pmid= 15618964 |doi= 10.1038/sj.leu.2403602 }}
*{{cite journal | author=Douet-Guilbert N, Morel F, Le Bris MJ, ''et al.'' |title=Rearrangement of MLL in a patient with congenital acute monoblastic leukemia and granulocytic sarcoma associated with a t(1;11)(p36;q23) translocation. |journal=Leuk. Lymphoma |volume=46 |issue= 1 |pages= 143-6 |year= 2005 |pmid= 15621793 |doi= 10.1080/104281904000010783 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on NTRK1... {November 3, 2007 1:50:37 PM PDT}
- UPLOAD: Added new Image to wiki:
{November 3, 2007 1:51:11 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:51:33 PM PDT}
<!-- 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_NTRK1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1he7.
| PDB = {{PDB2|1he7}}, {{PDB2|1wwa}}, {{PDB2|1www}}, {{PDB2|2ifg}}
| Name = Neurotrophic tyrosine kinase, receptor, type 1
| HGNCid = 8031
| Symbol = NTRK1
| AltSymbols =; MTC; DKFZp781I14186; TRK; TRK1; TRKA; p140-TrkA
| OMIM = 191315
| ECnumber =
| Homologene = 1898
| MGIid = 97383
| GeneAtlas_image1 = PBB_GE_NTRK1_208605_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004714 |text = transmembrane receptor protein tyrosine kinase activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016301 |text = kinase activity}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0043121 |text = neurotrophin binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007169 |text = transmembrane receptor protein tyrosine kinase signaling pathway}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0008150 |text = biological_process}} {{GNF_GO|id=GO:0030183 |text = B cell differentiation}} {{GNF_GO|id=GO:0042490 |text = mechanoreceptor differentiation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 4914
| Hs_Ensembl = ENSG00000198400
| Hs_RefseqProtein = NP_001007793
| Hs_RefseqmRNA = NM_001007792
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 1
| Hs_GenLoc_start = 155052166
| Hs_GenLoc_end = 155118266
| Hs_Uniprot = P04629
| Mm_EntrezGene = 18211
| Mm_Ensembl = ENSMUSG00000028072
| Mm_RefseqmRNA = XM_283871
| Mm_RefseqProtein = XP_283871
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 3
| Mm_GenLoc_start = 87864171
| Mm_GenLoc_end = 87881089
| Mm_Uniprot =
}}
}}
'''Neurotrophic tyrosine kinase, receptor, type 1''', also known as '''NTRK1''', 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 neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date.<ref>{{cite web | title = Entrez Gene: NTRK1 neurotrophic tyrosine kinase, receptor, type 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4914| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Indo Y |title=Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. |journal=Clin. Auton. Res. |volume=12 Suppl 1 |issue= |pages= I20-32 |year= 2002 |pmid= 12102460 |doi= }}
*{{cite journal | author=Micera A, Lambiase A, Stampachiacchiere B, ''et al.'' |title=Nerve growth factor and tissue repair remodeling: trkA(NGFR) and p75(NTR), two receptors one fate. |journal=Cytokine Growth Factor Rev. |volume=18 |issue= 3-4 |pages= 245-56 |year= 2007 |pmid= 17531524 |doi= 10.1016/j.cytogfr.2007.04.004 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on PPARGC1A... {November 3, 2007 2:00:02 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 2:00:49 PM PDT}
- CREATED: Created new protein page: PPARGC1A {November 3, 2007 2:00:57 PM PDT}
- INFO: Beginning work on RASA1... {November 3, 2007 1:51:33 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein RASA1 image.jpg {November 3, 2007 1:52:28 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:52:53 PM PDT}
<!-- 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_RASA1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1wer.
| PDB = {{PDB2|1wer}}, {{PDB2|1wq1}}, {{PDB2|2gqi}}, {{PDB2|2gsb}}, {{PDB2|2j05}}, {{PDB2|2j06}}
| Name = RAS p21 protein activator (GTPase activating protein) 1
| HGNCid = 9871
| Symbol = RASA1
| AltSymbols =; CM-AVM; CMAVM; DKFZp434N071; GAP; PKWS; RASA; RASGAP; p120GAP
| OMIM = 139150
| ECnumber =
| Homologene = 2168
| MGIid = 97860
| GeneAtlas_image1 = PBB_GE_RASA1_210621_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_RASA1_202677_at_tn.png
| Function = {{GNF_GO|id=GO:0005099 |text = Ras GTPase activator activity}} {{GNF_GO|id=GO:0005102 |text = receptor binding}} {{GNF_GO|id=GO:0019870 |text = potassium channel inhibitor activity}} {{GNF_GO|id=GO:0051020 |text = GTPase binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0000910 |text = cytokinesis}} {{GNF_GO|id=GO:0001570 |text = vasculogenesis}} {{GNF_GO|id=GO:0001953 |text = negative regulation of cell-matrix adhesion}} {{GNF_GO|id=GO:0007155 |text = cell adhesion}} {{GNF_GO|id=GO:0007162 |text = negative regulation of cell adhesion}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0008360 |text = regulation of cell shape}} {{GNF_GO|id=GO:0009790 |text = embryonic development}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0030833 |text = regulation of actin filament polymerization}} {{GNF_GO|id=GO:0043524 |text = negative regulation of neuron apoptosis}} {{GNF_GO|id=GO:0045768 |text = positive regulation of anti-apoptosis}} {{GNF_GO|id=GO:0051056 |text = regulation of small GTPase mediated signal transduction}} {{GNF_GO|id=GO:0051252 |text = regulation of RNA metabolic process}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 5921
| Hs_Ensembl = ENSG00000145715
| Hs_RefseqProtein = NP_002881
| Hs_RefseqmRNA = NM_002890
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 5
| Hs_GenLoc_start = 86599461
| Hs_GenLoc_end = 86723487
| Hs_Uniprot = P20936
| Mm_EntrezGene = 218397
| Mm_Ensembl = ENSMUSG00000021549
| Mm_RefseqmRNA = NM_145452
| Mm_RefseqProtein = NP_663427
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 13
| Mm_GenLoc_start = 85688185
| Mm_GenLoc_end = 85762139
| Mm_Uniprot =
}}
}}
'''RAS p21 protein activator (GTPase activating protein) 1''', also known as '''RASA1''', 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 located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues.<ref>{{cite web | title = Entrez Gene: RASA1 RAS p21 protein activator (GTPase activating protein) 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5921| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Tocque B, Delumeau I, Parker F, ''et al.'' |title=Ras-GTPase activating protein (GAP): a putative effector for Ras. |journal=Cell. Signal. |volume=9 |issue= 2 |pages= 153-8 |year= 1997 |pmid= 9113414 |doi= }}
*{{cite journal | author=Boon LM, Mulliken JB, Vikkula M |title=RASA1: variable phenotype with capillary and arteriovenous malformations. |journal=Curr. Opin. Genet. Dev. |volume=15 |issue= 3 |pages= 265-9 |year= 2005 |pmid= 15917201 |doi= 10.1016/j.gde.2005.03.004 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on SCN5A... {November 3, 2007 1:52:53 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein SCN5A image.jpg {November 3, 2007 1:53:22 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:53:56 PM PDT}
<!-- 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_SCN5A_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1byy.
| PDB = {{PDB2|1byy}}
| Name = Sodium channel, voltage-gated, type V, alpha subunit
| HGNCid = 10593
| Symbol = SCN5A
| AltSymbols =; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
| OMIM = 600163
| ECnumber =
| Homologene = 22738
| MGIid = 98251
| Function = {{GNF_GO|id=GO:0005216 |text = ion channel activity}} {{GNF_GO|id=GO:0005248 |text = voltage-gated sodium channel activity}} {{GNF_GO|id=GO:0031402 |text = sodium ion binding}}
| Component = {{GNF_GO|id=GO:0001518 |text = voltage-gated sodium channel complex}} {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0006936 |text = muscle contraction}} {{GNF_GO|id=GO:0008016 |text = regulation of heart contraction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6331
| Hs_Ensembl =
| Hs_RefseqProtein = XP_001131636
| Hs_RefseqmRNA = XM_001131636
| Hs_GenLoc_db =
| Hs_GenLoc_chr =
| Hs_GenLoc_start =
| Hs_GenLoc_end =
| Hs_Uniprot =
| Mm_EntrezGene = 20271
| Mm_Ensembl = ENSMUSG00000032511
| Mm_RefseqmRNA = NM_021544
| Mm_RefseqProtein = NP_067519
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 9
| Mm_GenLoc_start = 119332109
| Mm_GenLoc_end = 119427714
| Mm_Uniprot =
}}
}}
'''Sodium channel, voltage-gated, type V, alpha subunit''', also known as '''SCN5A''', 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 integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.<ref>{{cite web | title = Entrez Gene: SCN5A sodium channel, voltage-gated, type V, alpha subunit| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6331| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Viswanathan PC, Balser JR |title=Inherited sodium channelopathies: a continuum of channel dysfunction. |journal=Trends Cardiovasc. Med. |volume=14 |issue= 1 |pages= 28-35 |year= 2004 |pmid= 14720472 |doi= }}
*{{cite journal | author=Catterall WA, Goldin AL, Waxman SG |title=International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 397-409 |year= 2006 |pmid= 16382098 |doi= 10.1124/pr.57.4.4 }}
*{{cite journal | author=Wolf CM, Berul CI |title=Inherited conduction system abnormalities--one group of diseases, many genes. |journal=J. Cardiovasc. Electrophysiol. |volume=17 |issue= 4 |pages= 446-55 |year= 2006 |pmid= 16643374 |doi= 10.1111/j.1540-8167.2006.00427.x }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on STAT5A... {November 3, 2007 1:53:56 PM PDT}
- UPLOAD: Added new Image to wiki: {November 3, 2007 1:54:42 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:54:54 PM PDT}
<!-- 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 = [[Protein_Data_Bank|PDB]] rendering based on 1y1u.
| PDB = {{PDB2|1y1u}}
| Name = Signal transducer and activator of transcription 5A
| HGNCid = 11366
| Symbol = STAT5A
| AltSymbols =; MGF; STAT5
| OMIM = 601511
| ECnumber =
| Homologene = 20680
| MGIid = 103036
| GeneAtlas_image1 = PBB_GE_STAT5A_203010_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005509 |text = calcium ion binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0001553 |text = luteinization}} {{GNF_GO|id=GO:0001779 |text = natural killer cell differentiation}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007242 |text = intracellular signaling cascade}} {{GNF_GO|id=GO:0007259 |text = JAK-STAT cascade}} {{GNF_GO|id=GO:0007565 |text = female pregnancy}} {{GNF_GO|id=GO:0007595 |text = lactation}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0019218 |text = regulation of steroid metabolic process}} {{GNF_GO|id=GO:0019221 |text = cytokine and chemokine mediated signaling pathway}} {{GNF_GO|id=GO:0019915 |text = sequestering of lipid}} {{GNF_GO|id=GO:0030155 |text = regulation of cell adhesion}} {{GNF_GO|id=GO:0030856 |text = regulation of epithelial cell differentiation}} {{GNF_GO|id=GO:0030879 |text = mammary gland development}} {{GNF_GO|id=GO:0040018 |text = positive regulation of body size}} {{GNF_GO|id=GO:0042104 |text = positive regulation of activated T cell proliferation}} {{GNF_GO|id=GO:0043029 |text = T cell homeostasis}} {{GNF_GO|id=GO:0043066 |text = negative regulation of apoptosis}} {{GNF_GO|id=GO:0045086 |text = positive regulation of interleukin-2 biosynthetic process}} {{GNF_GO|id=GO:0045579 |text = positive regulation of B cell differentiation}} {{GNF_GO|id=GO:0045647 |text = negative regulation of erythrocyte differentiation}} {{GNF_GO|id=GO:0045885 |text = positive regulation of survival gene product activity}} {{GNF_GO|id=GO:0045931 |text = positive regulation of progression through mitotic cell cycle}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0046543 |text = development of secondary female sexual characteristics}} {{GNF_GO|id=GO:0046544 |text = development of secondary male sexual characteristics}} {{GNF_GO|id=GO:0050729 |text = positive regulation of inflammatory response}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 6776
| Hs_Ensembl = ENSG00000126561
| Hs_RefseqProtein = NP_003143
| Hs_RefseqmRNA = NM_003152
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 17
| Hs_GenLoc_start = 37693091
| Hs_GenLoc_end = 37717484
| Hs_Uniprot = P42229
| Mm_EntrezGene = 20850
| Mm_Ensembl = ENSMUSG00000004043
| Mm_RefseqmRNA = NM_011488
| Mm_RefseqProtein = NP_035618
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 11
| Mm_GenLoc_start = 100675493
| Mm_GenLoc_end = 100701259
| Mm_Uniprot = Q3UZ79
}}
}}
'''Signal transducer and activator of transcription 5A''', also known as '''STAT5A''', 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 STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for the tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells.<ref>{{cite web | title = Entrez Gene: STAT5A signal transducer and activator of transcription 5A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6776| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Kisseleva T, Bhattacharya S, Braunstein J, Schindler CW |title=Signaling through the JAK/STAT pathway, recent advances and future challenges. |journal=Gene |volume=285 |issue= 1-2 |pages= 1-24 |year= 2002 |pmid= 12039028 |doi= }}
*{{cite journal | author=Buitenhuis M, Coffer PJ, Koenderman L |title=Signal transducer and activator of transcription 5 (STAT5). |journal=Int. J. Biochem. Cell Biol. |volume=36 |issue= 11 |pages= 2120-4 |year= 2005 |pmid= 15313458 |doi= 10.1016/j.biocel.2003.11.008 }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TGFBR1... {November 3, 2007 1:54:54 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein TGFBR1 image.jpg {November 3, 2007 1:55:09 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:55:31 PM PDT}
<!-- 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_TGFBR1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1b6c.
| PDB = {{PDB2|1b6c}}, {{PDB2|1ias}}, {{PDB2|1py5}}, {{PDB2|1rw8}}, {{PDB2|1vjy}}
| Name = Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
| HGNCid = 11772
| Symbol = TGFBR1
| AltSymbols =; ACVRLK4; AAT5; ALK-5; ALK5; SKR4; TGFR-1
| OMIM = 190181
| ECnumber =
| Homologene = 3177
| MGIid = 98728
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0005025 |text = transforming growth factor beta receptor activity, type I}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0030145 |text = manganese ion binding}} {{GNF_GO|id=GO:0046332 |text = SMAD binding}} {{GNF_GO|id=GO:0050431 |text = transforming growth factor beta binding}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0001701 |text = in utero embryonic development}} {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007181 |text = transforming growth factor beta receptor complex assembly}} {{GNF_GO|id=GO:0008284 |text = positive regulation of cell proliferation}} {{GNF_GO|id=GO:0008354 |text = germ cell migration}} {{GNF_GO|id=GO:0009790 |text = embryonic development}} {{GNF_GO|id=GO:0030199 |text = collagen fibril organization}} {{GNF_GO|id=GO:0045449 |text = regulation of transcription}} {{GNF_GO|id=GO:0048663 |text = neuron fate commitment}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7046
| Hs_Ensembl = ENSG00000106799
| Hs_RefseqProtein = NP_004603
| Hs_RefseqmRNA = NM_004612
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 9
| Hs_GenLoc_start = 100907233
| Hs_GenLoc_end = 100956406
| Hs_Uniprot = P36897
| Mm_EntrezGene = 21812
| Mm_Ensembl = ENSMUSG00000007613
| Mm_RefseqmRNA = NM_009370
| Mm_RefseqProtein = NP_033396
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 4
| Mm_GenLoc_start = 47374405
| Mm_GenLoc_end = 47436024
| Mm_Uniprot = Q3U485
}}
}}
'''Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)''', also known as '''TGFBR1''', 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 forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS).<ref>{{cite web | title = Entrez Gene: TGFBR1 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7046| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Massagué J |title=Receptors for the TGF-beta family. |journal=Cell |volume=69 |issue= 7 |pages= 1067-70 |year= 1992 |pmid= 1319842 |doi= }}
*{{cite journal | author=Wrana JL |title=TGF-beta receptors and signalling mechanisms. |journal=Mineral and electrolyte metabolism |volume=24 |issue= 2-3 |pages= 120-30 |year= 1998 |pmid= 9525694 |doi= }}
*{{cite journal | author=Josso N, di Clemente N, Gouédard L |title=Anti-Müllerian hormone and its receptors. |journal=Mol. Cell. Endocrinol. |volume=179 |issue= 1-2 |pages= 25-32 |year= 2001 |pmid= 11420127 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TNFRSF1B... {November 3, 2007 1:55:31 PM PDT}
- SEARCH REDIRECT: Control Box Found: CD120 {November 3, 2007 1:56:23 PM PDT}
- UPDATE PROTEIN BOX: Updating Protein Box, No errors. {November 3, 2007 1:56:24 PM PDT}
- SKIP SUMMARY: SKIPPING Summary, No Errors. {November 3, 2007 1:56:24 PM PDT}
- UPDATE CITATIONS: Updating Citations, No Errors. {November 3, 2007 1:56:24 PM PDT}
- UPDATED: Updated protein page: CD120 {November 3, 2007 1:56:30 PM PDT}
- INFO: Beginning work on TOP2A... {November 3, 2007 1:56:31 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein TOP2A image.jpg {November 3, 2007 1:56:47 PM PDT}
- CREATE: Found no pages, creating new page. {November 3, 2007 1:56:59 PM PDT}
- CREATED: Created new protein page: TOP2A {November 3, 2007 1:57:07 PM PDT}
- INFO: Beginning work on TRAF6... {November 3, 2007 1:57:07 PM PDT}
- UPLOAD: Added new Image to wiki: File:PBB Protein TRAF6 image.jpg {November 3, 2007 1:57:58 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:58:10 PM PDT}
<!-- 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_TRAF6_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1lb4.
| PDB = {{PDB2|1lb4}}, {{PDB2|1lb5}}, {{PDB2|1lb6}}, {{PDB2|2jmd}}
| Name = TNF receptor-associated factor 6
| HGNCid = 12036
| Symbol = TRAF6
| AltSymbols =; MGC:3310; RNF85
| OMIM = 602355
| ECnumber =
| Homologene = 3395
| MGIid = 108072
| GeneAtlas_image1 = PBB_GE_TRAF6_205558_at_tn.png
| Function = {{GNF_GO|id=GO:0004842 |text = ubiquitin-protein ligase activity}} {{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:0000209 |text = protein polyubiquitination}} {{GNF_GO|id=GO:0002726 |text = positive regulation of T cell cytokine production}} {{GNF_GO|id=GO:0006512 |text = ubiquitin cycle}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007250 |text = activation of NF-kappaB-inducing kinase}} {{GNF_GO|id=GO:0042981 |text = regulation of apoptosis}} {{GNF_GO|id=GO:0043123 |text = positive regulation of I-kappaB kinase/NF-kappaB cascade}} {{GNF_GO|id=GO:0050852 |text = T cell receptor signaling pathway}} {{GNF_GO|id=GO:0050870 |text = positive regulation of T cell activation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7189
| Hs_Ensembl = ENSG00000175104
| Hs_RefseqProtein = NP_004611
| Hs_RefseqmRNA = NM_004620
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 11
| Hs_GenLoc_start = 36467299
| Hs_GenLoc_end = 36488398
| Hs_Uniprot = Q9Y4K3
| Mm_EntrezGene = 22034
| Mm_Ensembl = ENSMUSG00000027164
| Mm_RefseqmRNA = NM_009424
| Mm_RefseqProtein = NP_033450
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 2
| Mm_GenLoc_start = 101479279
| Mm_GenLoc_end = 101501817
| Mm_Uniprot = Q6P9M0
}}
}}
'''TNF receptor-associated factor 6''', also known as '''TRAF6''', 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 are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein mediates the signaling not only from the members of the TNF receptor superfamily, but also from the members of the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. Two alternatively spliced transcript variants encoding identical proteins have been reported.<ref>{{cite web | title = Entrez Gene: TRAF6 TNF receptor-associated factor 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7189| 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=Tanaka S, Nakamura K, Takahasi N, Suda T |title=Role of RANKL in physiological and pathological bone resorption and therapeutics targeting the RANKL-RANK signaling system. |journal=Immunol. Rev. |volume=208 |issue= |pages= 30-49 |year= 2006 |pmid= 16313339 |doi= 10.1111/j.0105-2896.2005.00327.x }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on TSC2... {November 3, 2007 1:58:10 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 1:58:48 PM PDT}
<!-- 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 = Tuberous sclerosis 2
| HGNCid = 12363
| Symbol = TSC2
| AltSymbols =; LAM; FLJ43106; TSC4
| OMIM = 191092
| ECnumber =
| Homologene = 462
| MGIid = 102548
| GeneAtlas_image1 = PBB_GE_TSC2_215735_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}} {{GNF_GO|id=GO:0051082 |text = unfolded protein binding}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0006897 |text = endocytosis}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0043547 |text = positive regulation of GTPase activity}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}} {{GNF_GO|id=GO:0046626 |text = regulation of insulin receptor signaling pathway}} {{GNF_GO|id=GO:0051056 |text = regulation of small GTPase mediated signal transduction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7249
| Hs_Ensembl = ENSG00000103197
| Hs_RefseqProtein = NP_066399
| Hs_RefseqmRNA = NM_021055
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 16
| Hs_GenLoc_start = 2037991
| Hs_GenLoc_end = 2078713
| Hs_Uniprot = P49815
| Mm_EntrezGene = 22084
| Mm_Ensembl = ENSMUSG00000002496
| Mm_RefseqmRNA = NM_001039363
| Mm_RefseqProtein = NP_001034452
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 17
| Mm_GenLoc_start = 24323537
| Mm_GenLoc_end = 24360229
| Mm_Uniprot = Q3TQ10
}}
}}
'''Tuberous sclerosis 2''', also known as '''TSC2''', 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 = Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms.<ref>{{cite web | title = Entrez Gene: TSC2 tuberous sclerosis 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7249| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Jones AC, Shyamsundar MM, Thomas MW, ''et al.'' |title=Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. |journal=Am. J. Hum. Genet. |volume=64 |issue= 5 |pages= 1305-15 |year= 1999 |pmid= 10205261 |doi= }}
*{{cite journal | author=Hengstschläger M |title=Tuberous sclerosis complex genes: from flies to human genetics. |journal=Arch. Dermatol. Res. |volume=293 |issue= 8 |pages= 383-6 |year= 2002 |pmid= 11686512 |doi= }}
*{{cite journal | author=Hockenbery DM |title=Nailing down a link between tuberin and renal cysts. |journal=Am. J. Pathol. |volume=162 |issue= 2 |pages= 369-71 |year= 2003 |pmid= 12547695 |doi= }}
*{{cite journal | author=Ramesh V |title=Aspects of tuberous sclerosis complex (TSC) protein function in the brain. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 579-83 |year= 2004 |pmid= 12773159 |doi= 10.1042/ }}
*{{cite journal | author=Knowles MA, Hornigold N, Pitt E |title=Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours. |journal=Biochem. Soc. Trans. |volume=31 |issue= Pt 3 |pages= 597-602 |year= 2004 |pmid= 12773163 |doi= 10.1042/ }}
*{{cite journal | author=Ellisen LW |title=Growth control under stress: mTOR regulation through the REDD1-TSC pathway. |journal=Cell Cycle |volume=4 |issue= 11 |pages= 1500-02 |year= 2007 |pmid= 16258273 |doi= }}
*{{cite journal | author=Jozwiak J, Jozwiak S |title=Giant cells: contradiction to two-hit model of tuber formation? |journal=Cell. Mol. Neurobiol. |volume=27 |issue= 2 |pages= 251-61 |year= 2007 |pmid= 16897363 |doi= 10.1007/s10571-006-9106-0 }}
*{{cite journal | author=Cai SL, Walker CL |title=TSC2, a key player in tumor suppression and cystic kidney disease. |journal=Nephrol. Ther. |volume=2 Suppl 2 |issue= |pages= S119-22 |year= 2007 |pmid= 17373211 |doi= }}
*{{cite journal | author=Urban T |title=[Pulmonary lymphangioleiomyomatosis with or without tuberous sclerosis] |journal=Revue des maladies respiratoires |volume=24 |issue= 6 |pages= 725-40 |year= 2007 |pmid= 17632432 |doi= }}
}}
{{refend}}
{{protein-stub}}
- INFO: Beginning work on WAS... {November 3, 2007 1:58:48 PM PDT}
- UPLOAD: Added new Image to wiki:
{November 3, 2007 1:59:40 PM PDT}
- AMBIGUITY: Did not locate an acceptable page to update. {November 3, 2007 2:00:02 PM PDT}
<!-- 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_WAS_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1cee.
| PDB = {{PDB2|1cee}}, {{PDB2|1ej5}}, {{PDB2|1t84}}
| Name = Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
| HGNCid = 12731
| Symbol = WAS
| AltSymbols =; IMD2; THC; WASP
| OMIM = 300392
| ECnumber =
| Homologene = 30970
| MGIid = 105059
| GeneAtlas_image1 = PBB_GE_WAS_38964_r_at_tn.png
| GeneAtlas_image2 = PBB_GE_WAS_205400_at_tn.png
| Function = {{GNF_GO|id=GO:0005083 |text = small GTPase regulator activity}} {{GNF_GO|id=GO:0042802 |text = identical protein binding}}
| Component = {{GNF_GO|id=GO:0012506 |text = vesicle membrane}} {{GNF_GO|id=GO:0015629 |text = actin cytoskeleton}}
| Process = {{GNF_GO|id=GO:0006461 |text = protein complex assembly}} {{GNF_GO|id=GO:0006952 |text = defense response}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}} {{GNF_GO|id=GO:0008544 |text = epidermis development}} {{GNF_GO|id=GO:0016197 |text = endosome transport}} {{GNF_GO|id=GO:0030041 |text = actin filament polymerization}} {{GNF_GO|id=GO:0030048 |text = actin filament-based movement}} {{GNF_GO|id=GO:0042110 |text = T cell activation}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 7454
| Hs_Ensembl = ENSG00000015285
| Hs_RefseqProtein = NP_000368
| Hs_RefseqmRNA = NM_000377
| Hs_GenLoc_db =
| Hs_GenLoc_chr = X
| Hs_GenLoc_start = 48427112
| Hs_GenLoc_end = 48434762
| Hs_Uniprot = P42768
| Mm_EntrezGene = 22376
| Mm_Ensembl = ENSMUSG00000031165
| Mm_RefseqmRNA = XM_976759
| Mm_RefseqProtein = XP_981853
| Mm_GenLoc_db =
| Mm_GenLoc_chr = X
| Mm_GenLoc_start = 7238425
| Mm_GenLoc_end = 7247411
| Mm_Uniprot = Q53WY0
}}
}}
'''Wiskott-Aldrich syndrome (eczema-thrombocytopenia)''', also known as '''WAS''', 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 Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known.<ref>{{cite web | title = Entrez Gene: WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7454| accessdate = }}</ref>
}}
==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=O'Sullivan E, Kinnon C, Brickell P |title=Wiskott-Aldrich syndrome protein, WASP. |journal=Int. J. Biochem. Cell Biol. |volume=31 |issue= 3-4 |pages= 383-7 |year= 1999 |pmid= 10224664 |doi= }}
*{{cite journal | author=Snapper SB, Rosen FS |title=The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization. |journal=Annu. Rev. Immunol. |volume=17 |issue= |pages= 905-29 |year= 1999 |pmid= 10358777 |doi= 10.1146/annurev.immunol.17.1.905 }}
*{{cite journal | author=Thrasher AJ, Kinnon C |title=The Wiskott-Aldrich syndrome. |journal=Clin. Exp. Immunol. |volume=120 |issue= 1 |pages= 2-9 |year= 2000 |pmid= 10759756 |doi= }}
}}
{{refend}}
{{protein-stub}}
end log.
