RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

Ensembl:
ENSG00000115839
UniProt:
Q15042
OMIM:
602536
Synonyms:
KIAA0066, RAB3GAP, RAB3GAP130, WARBM1

Cilia effects upon perturbation of RAB3GAP1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal locomotor behavior; decreased mean corpuscular hemoglobin; decreased exploration in new environment; increased circulating alkaline phosphatase level

Ciliopathy associations

  • Warburg Micro Syndrome

Subcellular localization

cytosol, nucleoplasm

Functional category

  • Motile cilium & axoneme; Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Mutations in RAB3GAP1 cause Warburg micro syndrome (PMID: 26063829).