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Description for Protein RFXANK

regulatory factor X-associated ankyrin-containing protein
13 total interacting proteins; 5 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • ANK: ankyrin repeats
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08062
    KEGG - Pathway(s):
    hsa04612; hsa05340
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ANKRA1; BLS; DNA binding protein RFXANK; RFX-Bdelta4; Ankyrin repeat containing regulatory factor X associated protein; Regulatory factor X associated ankyrin containing protein isoform a; Regulatory factor X associated ankyrin containing protein isoform b; Ankyrin repeat family A protein 1; Regulatory factor X subunit B; RFXB
    Approved Symbol:
    RFXANK
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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:

  • Bare lymphocyte syndrome, type II, complementation group B(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04435 Entrez Gene ID: 8625 OMIM ID: 603200 Swissprot Accession: O14593;