COPB1

Chr 11

coat protein complex I subunit beta 1

Also known as: BARMACS, COPB

NCBI Gene: 1315 ENSG00000129083 UniProt: P53618

The COPB1 protein is a subunit of the coatomer complex that mediates vesicular transport between the endoplasmic reticulum and Golgi apparatus, playing essential roles in protein trafficking, lipid homeostasis, and cellular compartmentalization. Mutations cause Baralle-Macken syndrome, an autosomal recessive disorder. This gene is highly constrained against loss-of-function mutations (pLI 0.999, LOEUF 0.213), indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBaralle-Macken syndrome

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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