GTF2IRD1

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.[5][6][7]

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
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q11.23 Start 74,453,790 bp[1] End 74,602,604 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G2|5 74.55 cM Start 134,357,656 bp[2] End 134,456,716 bp[2]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • DNA binding • GO:0001948 protein binding Cellular component • cell nucleus • nucleoplasm • cytoplasm • cytosol Biological process • regulation of transcription, DNA-templated • transcription, DNA-templated • transition between slow and fast fiber • regulation of transcription from RNA polymerase II promoter • multicellular organism development • transcription from RNA polymerase II promoter 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: 134.36 – 134.46 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000006704 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023079 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC (November 1998). "Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1". Molecular and Cellular Biology. 18 (11): 6641–52. doi:10.1128/mcb.18.11.6641. PMC 109249. PMID 9774679.
6. Osborne LR, Campbell T, Daradich A, Scherer SW, Tsui LC (May 1999). "Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome". Genomics. 57 (2): 279–84. doi:10.1006/geno.1999.5784. PMID 10198167.
7. "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1".

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.
• 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: 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. 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. 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. 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. 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. 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.
• 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. doi:10.1038/nature04209. PMID 16189514.
• Tassabehji M, Hammond P, Karmiloff-Smith A, et al. (2005). "GTF2IRD1 in craniofacial development of humans and mice". Science. 310 (5751): 1184–7. doi:10.1126/science.1116142. PMID 16293761.