Target:TFII-I
Fields:Basal transcription factors;cGMP-PKG signaling pathway
Gene Name:GTF2I
Protein Name:General transcription factor II-I
Human Gene Id:2969
Human Swiss Prot No:P78347
Mouse Gene Id:14886
Mouse Swiss Prot No:Q9ESZ8
Rat Gene Id:353256
Rat Swiss Prot No:Q5U2Y1
Immunogen:The antiserum was produced against synthesized peptide derived from human TFII-I around the phosphorylation site of Tyr248. AA range:214-263
Specificity:Phospho-TFII-I (Y248) Polyclonal Antibody detects endogenous levels of TFII-I protein only when phosphorylated at Y248.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500 - 1:2000. ELISA: 1:5000. Not yet tested in other applications.
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:GTF2I;BAP135;WBSCR6;General transcription factor II-I;GTFII-I;TFII-I;Bruton tyrosine kinase-associated protein 135;BAP-135;BTK-associated protein 135;SRF-Phox1-interacting protein;SPIN;Williams-Beuren syndrome chromosomal region
Observed Band(KD):115kD
Background:general transcription factor IIi(GTF2I) Homo sapiens 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],
Function: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
Subcellular Location:Cytoplasm . Nucleus . Colocalizes with BTK in the cytoplasm.
Expression: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.