ARFGAP1

Chr 20

ARF GTPase activating protein 1

Also known as: ARF1GAP, HRIHFB2281

NCBI Gene: 55738 ENSG00000101199 UniProt: Q8N6T3 OMIM: 608377

ARFGAP1 encodes a GTPase-activating protein that promotes hydrolysis of ARF1-bound GTP, which is essential for dissociation of coat proteins from Golgi-derived membranes and vesicles to enable proper vesicle fusion and membrane trafficking. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities. The gene shows significant constraint against loss-of-function variants (LOEUF 0.599), consistent with its essential cellular role.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)