GTF2IRD1

Protein-coding gene in the species Homo sapiens
GTF2IRD1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2D99, 2DN5, 2DZQ, 2DZR

Identifiers
AliasesGTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1
External IDsOMIM: 604318; MGI: 1861942; HomoloGene: 4158; GeneCards: GTF2IRD1; OMA:GTF2IRD1 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for GTF2IRD1
Genomic location for GTF2IRD1
Band7q11.23Start74,453,790 bp[1]
End74,602,605 bp[1]
Gene location (Mouse)
Chromosome 5 (mouse)
Chr.Chromosome 5 (mouse)[2]
Chromosome 5 (mouse)
Genomic location for GTF2IRD1
Genomic location for GTF2IRD1
Band5 G2|5 74.55 cMStart134,386,510 bp[2]
End134,485,570 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 5: 134.39 – 134.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000006704 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  • v
  • t
  • e
  • 2d99: Solution Structure of RSGI RUH-048, a GTF2I domain in human cDNA
    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
    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
    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
    2dzr: Solution Structure of RSGI RUH-067, a GTF2I domain in human cDNA


Stub icon

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e