RASA1

RAS p21 protein activator 1

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

Cilia effects upon perturbation of RASA1

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
Mouse ciliopathy phenotype:
increased heart weight, abnormal reti vasculature morphology

Subcellular localization

basal body, cytosol

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.