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Description for Protein GTF2I

general transcription factor IIi
33 total interacting proteins; 13 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K03121
KEGG - Pathway(s):
hsa03022
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
BTK associated protein 135; BAP135; Bruton tyrosine kinase associated protein 135; GTF2-I; TF2-I; SPIN; SRF-Phox1 interacting protein; General transcription factor II, i isoform 2; General transcription factor II, i isoform 3; General transcription factor II, i isoform 4; General transcription factor II, i isoform 1
Approved Symbol:
GTF2I
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 146
Human (de-) phosphorylation sites: 146; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

None Available
Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03399 Entrez Gene ID: 2969 OMIM ID: 601679 Swissprot Accession: P78347; Q499G6;