Description: Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA. RefSeq Summary (NM_032999): 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]. Transcript (Including UTRs) Position: hg19 chr7:74,072,030-74,175,022 Size: 102,993 Total Exon Count: 35 Strand: + Coding Region Position: hg19 chr7:74,103,463-74,173,168 Size: 69,706 Coding Exon Count: 33
ID:GTF2I_HUMAN DESCRIPTION: RecName: Full=General transcription factor II-I; Short=GTFII-I; Short=TFII-I; AltName: Full=Bruton tyrosine kinase-associated protein 135; Short=BAP-135; Short=BTK-associated protein 135; AltName: Full=SRF-Phox1-interacting protein; Short=SPIN; AltName: Full=Williams-Beuren syndrome chromosomal region 6 protein; 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. 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, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and ARID3A. Interacts with isoform beta of PRKG1. INTERACTION: P38398:BRCA1; NbExp=5; IntAct=EBI-359622, EBI-349905; Q06187:BTK; NbExp=5; IntAct=EBI-359622, EBI-624835; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm. 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. 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. PTM: Sumoylated. DISEASE: Note=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. SIMILARITY: Belongs to the TFII-I family. SIMILARITY: Contains 6 GTF2I-like repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P78347
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0051019 mitogen-activated protein kinase binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006367 transcription initiation from RNA polymerase II promoter GO:0007165 signal transduction GO:0014886 transition between slow and fast fiber GO:0016525 negative regulation of angiogenesis GO:0051481 negative regulation of cytosolic calcium ion concentration