SMAP1

Chr 6

small ArfGAP 1

Also known as: SMAP-1

NCBI Gene: 60682 ENSG00000112305 UniProt: Q8IYB5 OMIM: 611372

This gene encodes a GTPase activating protein that regulates ARF6 and participates in clathrin-dependent endocytosis, with potential roles in erythropoiesis. The gene is highly constrained against loss-of-function variants (pLI = 0.99, LOEUF = 0.26), but no established Mendelian disease associations have been reported to date.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIM 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

0.26

LOEUF· LoF intol.

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Mechanism