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Description for Protein RAB27A

RAB27A, member RAS oncogene family
26 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(membrane: 1; platelet: 4; undefined: 1)
Summary:
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • RAB: Rab subfamily of small GTPases
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07885
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    RAB27; Ras associated protein 27; GS2; HsT18676; MGC117246; RAM; GTP-binding protein Ram; Ras-related protein Rab-27A; RAS-related gene from megakaryocyte
    Approved Symbol:
    RAB27A
    (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:

  • Griscelli syndrome, type 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04845 Entrez Gene ID: 5873 OMIM ID: 603868 Swissprot Accession: P51159; A2RU94;