GTF2IRD1

GTF2IRD1

Identifiers

GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1

External IDs

OMIM: 604318; MGI: 1861942; GeneCards: GTF2IRD1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2D99, 2DN5, 2DZQ, 2DZR

Gene location (Human)

Chr.	Chromosome 7 (human)

Band	7q11.23	Start	74,453,790 bp
Band	7q11.23	End	74,602,605 bp

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)

Band	5 G2\|5 74.55 cM	Start	134,386,510 bp
Band	5 G2\|5 74.55 cM	End	134,485,570 bp

RNA expression pattern

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

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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


9569


57080


ENSG00000006704


ENSMUSG00000023079


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

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000006704 – Ensembl, May 2017
1 2 3 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.
1 2 "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.

v t e 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

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