SEC31A

Chr 4AR

SEC31 homolog A, COPII component

Also known as: ABP125, ABP130, HPBKS, HSPC275, HSPC334, NEDSOSB, SEC31L1

NCBI Gene: 22872 ENSG00000138674 UniProt: O94979 OMIM: 610257

SEC31A encodes a component of the COPII coat protein complex that promotes formation of transport vesicles from the endoplasmic reticulum to the Golgi apparatus. Mutations cause Halperin-Birk syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.44), indicating intolerance to functional disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Halperin-Birk syndromeMIM #618651

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

0.44

LOEUF

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Mechanism