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Description for Protein GTF2IRD1

GTF2I repeat domain containing 1
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • NLS: Nuclear localization signal
    • 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:
    GTF2I repeat domain containing 1 isoform 1; GTF2I repeat domain containing 1 isoform 2; General transcription factor II-I repeat domain containing protein 1; GTF2I repeat domain containing 1; Muscle TFII-I repeat domain containing protein 1; General transcription factor III; Slow muscle fiber enhancer binding protein; USE B1 binding protein; MusTRD1/BEN; GTF3; RBAP2; CREAM1; GTF2I repeat domain containing protein 1; WBSCR11; WBSCR12; MusTRD1alpha1
    Approved Symbol:
    GTF2IRD1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08379 Entrez Gene ID: 9569 OMIM ID: 604318 Swissprot Accession: Q9UHL9;