Linked Life Data

CPATH-146808

Source:http://cbio.mskcc.org/cpath#CPATH-146808

Statements in which the resource exists.
SubjectPredicateObjectContext
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cpath:CPATH-146808http://www.biopax.org/relea...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. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P78347-1; Sequence=Displayed; Name=2; IsoId=P78347-2; Sequence=VSP_003867, VSP_003868; Name=3; IsoId=P78347-3; Sequence=VSP_003867; Name=4; IsoId=P78347-4; Sequence=VSP_003868; 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. GENE SYNONYMS: BAP135 WBSCR6. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
cpath:CPATH-146808http://www.biopax.org/relea...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. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P78347-1; Sequence=Displayed; Name=2; IsoId=P78347-2; Sequence=VSP_003867, VSP_003868; Name=3; IsoId=P78347-3; Sequence=VSP_003867; Name=4; IsoId=P78347-4; Sequence=VSP_003868; 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. GENE SYNONYMS: BAP135 WBSCR6. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:cellmap
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