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Description for Protein UNC13D

unc-13 homolog D (C. elegans)
3 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 8/2)
(alpha granules: 1; membrane: 2; microparticles: 1; platelet: 5; undefined: 1)
Summary:
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • C2: Protein kinase C conserved region 2 (CalB)
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Unc-13 homolog D; Munc13-4; FHL3; HLH3; HPLH3
    Approved Symbol:
    UNC13D
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Hemophagocytic lymphohistiocytosis, familial, 3(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10598 Entrez Gene ID: 201294 OMIM ID: 608897 Swissprot Accession: Q70J99;