GTF2I Antibody – Rabbit Polyclonal

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]

GTF2I: a multifunctional phosphoprotein with roles in transcription and signal transduction. Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and Phox1 and interacts cooperatively with Phox1 to promote serum-inducible transcription of a reporter gene driven by the C- FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Its gene is known to contain at least 34 exons. Four splice variant isoforms have been described.

Protein type: Transcription, coactivator/corepressor; DNA-binding

Chromosomal Location of Human Ortholog: 7q11.23

Cellular Component: nucleoplasm; cell projection; membrane; cell soma; cytoplasm; nucleus

Molecular Function: protein binding; DNA binding; mitogen-activated protein kinase binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; negative regulation of angiogenesis; regulation of transcription, DNA-dependent; transition between slow and fast fiber; reduction of cytosolic calcium ion concentration; signal transduction

Disease: Williams-beuren Syndrome