GTF2IRD1

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 plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Description

GTF2I repeat domain containing 1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

7:q11.23 (74453790 - 74602604)

Ensembl ID

ENSG00000006704  (ver. 84.38)

Orthologs

Mouse Gtf2ird1: ENSMUSG00000023079

UniProt

Q9UHL9

neXtProt

NX_Q9UHL9

Human splice variants
Mouse splice variants