GTF2IRD1

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GTF2I repeat domain containing 1
Protein GTF2IRD1 PDB 2d99.png
PDB rendering based on 2d99.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GTF2IRD1 ; BEN; CREAM1; GTF3; MUSTRD1; RBAP2; WBS; WBSCR11; WBSCR12; hMusTRD1alpha1
External IDs OMIM604318 MGI1861942 HomoloGene4158 GeneCards: GTF2IRD1 Gene
Orthologs
Species Human Mouse
Entrez 9569 57080
Ensembl ENSG00000006704 ENSMUSG00000023079
UniProt Q9UHL9 Q9JI57
RefSeq (mRNA) NM_001199207 NM_001081462
RefSeq (protein) NP_001186136 NP_001074931
Location (UCSC) Chr 7:
73.87 – 74.02 Mb
Chr 5:
134.36 – 134.46 Mb
PubMed search [1] [2]

General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ O'Mahoney JV, Guven KL, Lin J, Joya JE, Robinson CS, Wade RP, Hardeman EC (Nov 1998). "Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1". Mol Cell Biol 18 (11): 6641–52. PMC 109249. PMID 9774679. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: GTF2IRD1 GTF2I repeat domain containing 1". 

Further reading[edit]