Recombinant Human General transcription factor II-I (GTF2I), Truncated

Uniprot Id

P78347

Target Species

Human

Target Name

GTF2I

Target Full Name

General transcription factor II-I

Target 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.

Target Involvement

GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Target Subcellular Location

Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm.

Target Protein Families

TFII-I family

Target 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.

Target Synonyms

BAP 135; BAP-135; BAP135; Bruton tyrosine kinase associated protein 135; Bruton tyrosine kinase-associated protein 135; BTK associated protein 135; BTK associated protein 135kD; BTK associated protein; BTK-associated protein 135; BTKAP 1; BTKAP1; DIWS; FLJ38776; FLJ56355; General transcription factor II i; General transcription factor II-I; General transcription factor IIi; GTF 2I; Gtf2i; GTF2I_HUMAN; GTFII I; GTFII-I; IB 291; IB291; SPIN; SRF Phox 1 interacting protein; SRF Phox1 interacting protein; SRF-Phox1-interacting protein; TFII-I; Transcription factor II I; WBS; WBSCR 6; WBSCR6; Williams Beuren syndrome chromosome region 6; Williams Beuren syndrome chromosome region 6 protein; Williams-Beuren syndrome chromosomal region 6 protein

Target Background

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.