GTF2IRD1

GTF2IRD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D99, 2DN5, 2DZQ, 2DZR
Identifiers
Aliases	GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1
External IDs	OMIM: 604318; MGI: 1861942; HomoloGene: 4158; GeneCards: GTF2IRD1; OMA:GTF2IRD1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q11.23 Start 74,453,790 bp End 74,602,605 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 G2|5 74.55 cM Start 134,386,510 bp End 134,485,570 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh tibialis anterior muscle anterior pituitary gastrocnemius muscle Skeletal muscle tissue of biceps brachii mucosa of pharynx glutes body of tongue stromal cell of endometrium deltoid muscle Top expressed in saccule otic vesicle neural layer of retina zygote mandibular prominence otic placode genital tubercle molar ventricular zone epiblast More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding protein binding Cellular component nucleus nucleoplasm cytoplasm cytosol Biological process regulation of transcription, DNA-templated transcription, DNA-templated transition between slow and fast fiber regulation of transcription by RNA polymerase II multicellular organism development transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9569 57080 Ensembl ENSG00000006704 ENSMUSG00000023079 UniProt Q9UHL9 Q9JI57 RefSeq (mRNA) NM_001199207 NM_005685 NM_016328 NM_001081462 NM_001081463 NM_001081464 NM_001081465 NM_001081466 NM_001081467 NM_001081468 NM_001081469 NM_001081470 NM_001244936 NM_020331 NM_001347488 RefSeq (protein) NP_001186136 NP_005676 NP_057412 NP_001074931 NP_001074932 NP_001074933 NP_001074934 NP_001074935 NP_001074936 NP_001074937 NP_001074938 NP_001074939 NP_001231865 NP_001334417 NP_065064 Location (UCSC) Chr 7: 74.45 – 74.6 Mb Chr 5: 134.39 – 134.49 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.

The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.

Further reading

• Tassabehji M, Carette M, Wilmot C, et al. (2000). "A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome". Eur. J. Hum. Genet. 7 (7): 737–47. doi:10.1038/sj.ejhg.5200396. PMID 10573005.
• Franke Y, Peoples RJ, Francke U (2000). "Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23". Cytogenet. Cell Genet. 86 (3–4): 296–304. doi:10.1159/000015322. PMID 10575229. S2CID 39033828.
• Yan X, Zhao X, Qian M, et al. (2000). "Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I". Biochem. J. 345 Pt 3 (3): 749–57. doi:10.1042/0264-6021:3450749. PMC 1220813. PMID 10642537.
• Tussié-Luna MI, Bayarsaihan D, Ruddle FH, Roy AL (2001). "Repression of TFII-I-dependent transcription by nuclear exclusion". Proc. Natl. Acad. Sci. U.S.A. 98 (14): 7789–94. Bibcode:2001PNAS...98.7789T. doi:10.1073/pnas.141222298. PMC 35420. PMID 11438732.
• Tussie-Luna MI, Michel B, Hakre S, Roy AL (2003). "The SUMO ubiquitin-protein isopeptide ligase family member Miz1/PIASxbeta /Siz2 is a transcriptional cofactor for TFII-I". J. Biol. Chem. 277 (45): 43185–93. doi:10.1074/jbc.M207635200. PMID 12193603.
• Tussié-Luna MI, Bayarsaihan D, Seto E, et al. (2002). "Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxbeta". Proc. Natl. Acad. Sci. U.S.A. 99 (20): 12807–12. Bibcode:2002PNAS...9912807T. doi:10.1073/pnas.192464499. PMC 130541. PMID 12239342.
• Vullhorst D, Buonanno A (2003). "Characterization of general transcription factor 3, a transcription factor involved in slow muscle-specific gene expression". J. Biol. Chem. 278 (10): 8370–9. doi:10.1074/jbc.M209361200. PMID 12475981.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi:10.1038/nature01782. PMID 12853948.
• Polly P, Haddadi LM, Issa LL, et al. (2003). "hMusTRD1alpha1 represses MEF2 activation of the troponin I slow enhancer". J. Biol. Chem. 278 (38): 36603–10. doi:10.1074/jbc.M212814200. PMID 12857748.
• Hirota H, Matsuoka R, Chen XN, et al. (2004). "Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23". Genet. Med. 5 (4): 311–21. doi:10.1097/01.GIM.0000076975.10224.67. PMID 12865760.
• Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC 442147. PMID 15231747.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Grimsby S, Jaensson H, Dubrovska A, et al. (2005). "Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity". FEBS Lett. 577 (1–2): 93–100. doi:10.1016/j.febslet.2004.09.069. PMID 15527767. S2CID 82568.
• Jackson TA, Taylor HE, Sharma D, et al. (2005). "Vascular endothelial growth factor receptor-2: counter-regulation by the transcription factors, TFII-I and TFII-IRD1". J. Biol. Chem. 280 (33): 29856–63. doi:10.1074/jbc.M500335200. PMID 15941713.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Tassabehji M, Hammond P, Karmiloff-Smith A, et al. (2005). "GTF2IRD1 in craniofacial development of humans and mice". Science. 310 (5751): 1184–7. Bibcode:2005Sci...310.1184T. doi:10.1126/science.1116142. PMID 16293761. S2CID 26269826.