COPA Chromosome 1
Coat protein complex I subunit alpha
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What This Gene Does
In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|Receptor ligands|Coat protein complex I"
Locus Type
gene with protein product
Location
1q23.2
Ensembl
ENSG00000122218
Associated Conditions (5)
Autoimmune interstitial lung disease-arthritis syndrome
COPA-related disorder
Inborn genetic diseases
Familial cancer of breast
See cases
Key Variants
RS1214197748
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Inborn genetic diseases
Health Risk
RS1307001526
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS1314595703
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138387946
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138441444
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS138625189
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS139398871
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Familial cancer of breast
Health Risk
RS141211632
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS143115096
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS147312908
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS149398610
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
RS187547429
Conflicting classifications of pathogenicity
Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases, Autoimmune interstitial lung disease-arthritis syndrome
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1659063174 | Health Risk | Pathogenic | — |
| RS794727995 | Health Risk | Pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS864309710 | Health Risk | Pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome |
| RS794727993 | Health Risk | Pathogenic/Likely pathogenic | Autoimmune interstitial lung disease-arthritis syndrome, See cases, Autoimmune interstitial lung disease-arthritis syndrome |