RAPGEF1

Rap guanine nucleotide exchange factor 1

Tier: Gold Standard Ciliary Genes

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

Subcellular localization

basal body, cytosol

References: PMID:32371504

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).

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