GTF2IRD1

From Wikipedia, the free encyclopedia

GTF2I repeat domain containing 1

PDB rendering based on 2d99.

Available structures: 2d99, 2dn5, 2dzq, 2dzr

Identifiers

Symbol(s)

GTF2IRD1; WBS; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; hMusTRD1alpha1

External IDs

OMIM: 604318 MGI: 1861942 HomoloGene: 4158

Gene ontology
Molecular Function:	• DNA binding • RNA polymerase II transcription factor activity, enhancer binding
Cellular Component:	• nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent • multicellular organismal development

Orthologs

Human

Mouse

Refseq

NM_005685 (mRNA)
NP_005676 (protein)

NM_001081462 (mRNA)
NP_001074931 (protein)

Location

Chr 7: 73.51 - 73.65 Mb

Chr 5: 134.64 - 134.74 Mb

Pubmed search

[1]

[2]

GTF2I repeat domain containing 1, also known as GTF2IRD1, is a human gene.^[1]

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-Beuren 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1.

[edit] Further reading

O'Mahoney JV, Guven KL, Lin J, et al. (1998). "Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1.". Mol. Cell. Biol. 18 (11): 6641–52. PMID 9774679.
Osborne LR, Campbell T, Daradich A, et al. (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.
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. 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. 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. 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. 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. 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. 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. 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. 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.