SCUBE1

Chr 22

signal peptide, CUB domain and EGF like domain containing 1

NCBI Gene: 80274 ENSG00000159307 UniProt: Q8IWY4

This gene encodes a cell surface glycoprotein expressed in platelets and endothelial cells that functions as an adhesive molecule in vascular biology. Mutations cause platelet-type bleeding disorder-20 with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely deleterious.

ResearchSummary from RefSeq, UniProt

This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [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

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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