Protein-coding gene in the species Homo sapiens
Identifiers Aliases GTF2IRD1 External IDs OMIM : 604318 ; MGI : 1861942 ; HomoloGene : 4158 ; GeneCards : GTF2IRD1 ; OMA :GTF2IRD1 - orthologs Wikidata
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]
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
^ a b c GRCh38: Ensembl release 89: ENSG00000006704 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023079 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ 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 . ^ a b "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 . 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 .
PDB gallery
2d99 : Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA
2dn5 : Solution Structure of RSGI RUH-057, a GTF2I domain in human cDNA
2dzq : Solution Structure of RSGI RUH-066, a GTF2I domain in human cDNA
2dzr : Solution Structure of RSGI RUH-067, a GTF2I domain in human cDNA
This page was last edited on 3 March 2023, at 23:50
This page was last edited on 3 March 2023, at 23:50