RAPGEF1

Rap guanine nucleotide exchange factor 1

Ensembl:
ENSG00000107263
UniProt:
Q13905
OMIM:
600303
Synonyms:
C3G, GRF2

Cilia effects upon perturbation of RAPGEF1

Loss-of-function effect:
Longer cilia
Overexpression effect:
Decreased

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.20) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-0.9) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, complete penetrance
Mouse ciliopathy phenotype:
abnormal reti morphology

Subcellular localization

basal body, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

RAPGEF1 regulates centrosome duplication and maintains ciliary homeostasis, properties that could be important for its role in embryonic development(32371504).

Model organism evidence

Mus musculus (1 reference)

C3G localizes to the mother centriole in a cenexin-dependent manner and regulates centrosome duplication and primary cilium length.

PMIDs: 32371504