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Description for Protein RAB3GAP1

RAB3 GTPase activating protein subunit 1 (catalytic)
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 1; secretome: 1)
Summary:
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
None Available

Gene Ontology:
Gene Ontology Annotations

KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
RAB3GAP; KIAA0066
Approved Symbol:
RAB3GAP1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 9
Human (de-) phosphorylation sites: 9; 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:

  • Warburg micro syndrome(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 16002 Entrez Gene ID: 22930 OMIM ID: 602536 Swissprot Accession: Q15042B9A6J2