Disease:Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) , a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. ,Function: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 deriven 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. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. ,PTM:Sumoylated. ,PTM:Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation on Tyr-248 and Tyr-398 , and perhaps , on Tyr-503 contributes to BTK-mediated transcriptional activation. ,similarity:Belongs to the TFII-I family. ,similarity:Contains 6 GTF2I-like repeats. ,subcellular location:Colocalizes with BTK in the cytoplasm. ,subunit:Homodimer (Potential) . Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1) . Associates with the PH domain of Bruton's tyrosine kinase (BTK) . May be a component of a BHC histone deacetylase complex that contains HDAC1 , HDAC2 , HMG20B/BRAF35 , AOF2/LSD1 , RCOR1/CoREST , PHF21A/BHC80 , ZMYM2 , ZNF217 , ZMYM3 , GSE1 and GTF2I. Interacts with BTK and ARID3A. ,tissue specificity:Ubiquitous. Isoform 1 is strongly expressed in fetal brain , weakly in adult brain , muscle , and lymphoblasts and is almost undetectable in other adult tissues , while the other isoforms are equally expressed in all adult tissues. ,
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