USO1

Chr 4

USO1 vesicle transport factor

Also known as: P115, TAP, VDP

NCBI Gene: 8615 ENSG00000138768 UniProt: O60763

The USO1 protein is a vesicular transport factor that regulates intercisternal transport in the Golgi apparatus and promotes targeting of COPII vesicles from the endoplasmic reticulum to the Golgi by forming SNARE complexes. Mutations cause autosomal recessive developmental delay with dysmorphic facies and dental anomalies. This gene is highly constrained against loss-of-function variants (LOEUF = 0.369), suggesting intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

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

0.37

LOEUF

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Mechanism

Some data sources returned errors (1)

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