GTF2IRD1

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GTF2IRD1
Protein GTF2IRD1 PDB 2d99.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1
External IDs MGI: 1861942 HomoloGene: 4158 GeneCards: GTF2IRD1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001199207
NM_005685
NM_016328

RefSeq (protein)

NP_001186136
NP_005676
NP_057412

Location (UCSC) Chr 7: 74.45 – 74.6 Mb Chr 5: 134.36 – 134.46 Mb
PubMed search [1] [2]
Wikidata
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.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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". Mol Cell Biol. 18 (11): 6641–52. PMC 109249Freely accessible. PMID 9774679. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1". 

Further reading[edit]