ASAP1

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

Ensembl:: ENSG00000153317
UniProt:: Q9ULH1
OMIM:: 605953
Synonyms:: CENTB4, DDEF1, KIAA1249, PAP, ZG14P

Cilia effects upon perturbation of ASAP1

Loss-of-function effect:: No effect

Ciliogenesis screen results (2 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:: prolonged rr interval, decreased heart rate, preweaning lethality, incomplete penetrance, increased mean platelet volume

Subcellular localization

basal body

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Ciliary membrane
Transcription regulation

Function

Targets proteins, such as rhodopsin and polycystin-1, to cilia in association with ARF4, RAB11 and RAB8 (PMID:19153612, PMID:21775626). Provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary cargo trafficking (PMID:22983554).

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