COPG1

Chr 3AR

coat protein complex I subunit gamma 1

The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity)

OMIMResearchGenerating clinical summary…
ARLOEUF 0.401 OMIM phenotype
Clinical SummaryCOPG1
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Gene-Disease Validity (ClinGen)
non-severe combined immunodeficiency due to COPG1 deficiency · ARLimited

Limited evidence — not for standalone diagnostic reporting

Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.175
Z-score 4.77
OE 0.24 (0.150.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.07Z-score
OE missense 0.75 (0.690.81)
400 obs / 534.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.24 (0.150.40)
00.351.4
Missense OE?0.75 (0.690.81)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 11 / 45.9Missense obs/exp: 400 / 534.6Syn Z: 0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COPG1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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