RASA1

RAS p21 protein activator 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000145715
UniProt:
P20936
OMIM:
139150
Synonyms:
CM-AVM, GAP, P120, P120GAP, P120RASGAP, RASA

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:
preweaning lethality, complete penetrance, abnormal behavior, thrombocytopenia, increased mean corpuscular hemoglobin, decreased circulating phosphate level, decreased circulating glucose level, embryonic lethality prior to tooth bud stage

Subcellular localization

basal body, cytosol

References: PMID:41005307

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

RASA1 has localized in basal body.