ASAP1

Chr 8

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

Also known as: AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P

NCBI Gene: 50807 ENSG00000153317 UniProt: Q9ULH1

The ASAP1 protein functions as a GTPase-activating protein that regulates ARF1 and ARF5 to coordinate membrane trafficking, cytoskeleton remodeling, and ciliogenesis. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and behavioral abnormalities. This gene is highly constrained against loss-of-function variants, indicating that ASAP1 mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted

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