GTF2IRD1
Available structures
PDBOrtholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez

9569

57080

Ensembl

ENSG00000006704

ENSMUSG00000023079

UniProt

Q9UHL9

Q9JI57

RefSeq (mRNA)

NM_001199207
NM_005685
NM_016328

RefSeq (protein)

NP_001186136
NP_005676
NP_057412

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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000006704 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1".

Further reading


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