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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 6 protein (GTF2I, BAP135, WBSCR6)
Function:
- initiator element-dependent basal transcription factor
- substitutes for TFIIA
- interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, & linking specific signal responsive activator complexes
- promotes the formation of stable high-order complexes of SRF & phox1 & 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) & an upstream E-box
- required for the formation of functional ARID3A DNA-binding complexes & for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation
- transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor cross-linking
- sumoylated
- associates with the PH domain of Bruton's tyrosine kinase (BTK)
- may be a component of a BHC histone deacetylase complex
Structure:
- homodimer (putative)
- interacts with SRF & phox1
- belongs to the TFII-I family
- contains 6 GTF2I-like repeats
Compartment: cytoplasm, nucleus (putative)
Alternative splicing: named isoforms=4
Expression:
- ubiquitous
- isoform 1 is expressed in fetal brain > adult brain, muscle, & lymphoblasts > other adult tissues
- other isoforms are equally expressed in all adult tissues
Pathology:
- haploinsufficiency of GTF2I may be the cause of certain cardiovascular & musculo-skeletal abnormalities observed in Williams-Beuren syndrome
General
general transcription factor (basal transcription factor, transcription initiation factor)
phosphoprotein
Properties
SIZE: entity length = 998 aa
MW = 112 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
GTF2I-like {103-197}
MOTIF: Ser phosphorylation site {S103}
Ser phosphorylation site {S207}
Ser phosphorylation site {S210}
Tyr phosphorylation site {Y248}
Tyr phosphorylation site {Y318}
nuclear translocation signal {320-327}
GTF2I-like {352-446}
MOTIF: Tyr phosphorylation site {Y398}
Ser phosphorylation site {S412}
GTF2I-like {457-551}
MOTIF: Tyr phosphorylation site {Y503}
Ser phosphorylation site {S515}
Ser phosphorylation site {S517}
Thr phosphorylation site {T558}
GTF2I-like {562-656}
Ser phosphorylation site {S668}
Ser phosphorylation site {S674}
Ser phosphorylation site {S679}
Thr phosphorylation site {T687}
GTF2I-like {724-818}
MOTIF: Ser phosphorylation site {S784}
Ser phosphorylation site {S823}
GTF2I-like {859-953}
Database Correlations
OMIM 601679
UniProt P78347
Pfam PF02946
Entrez Gene 2969
Kegg hsa:2969
References
- Weis L, Reinberg D.
Transcription by RNA polymerase II: initiator-directed
formation of transcription-competent complexes.
FASEB J. 1992 Nov;6(14):3300-9. Review.
PMID: 1426767
- UniProt :accession P78347
Component-of
BHC histone deacetylase complex