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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COPA
coat protein complex I subunit alpha
Chromosome 1 Β· 1q23.2
NCBI Gene: 1314Ensembl: ENSG00000122218.18HGNC: HGNC:2230UniProt: P53621
306PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
pancreatic juice secretionprotein bindingGO:0005615cytoplasminterstitial lung diseaseautoimmune interstitial lung disease-arthritis syndromeAlzheimer diseaseneurodegenerative disease
✦AI Summary

COPA (coat protein complex I subunit alpha) is a component of the COPI vesicle coat complex involved in intracellular protein transport. The protein functions primarily in retrograde vesicle-mediated transport from the Golgi to the endoplasmic reticulum, as well as in anterograde ER-to-Golgi and intra-Golgi vesicle-mediated transport. COPA localizes to the Golgi membrane, endoplasmic reticulum membrane, and cytosol, where it participates in maintaining proper protein trafficking through the secretory pathway. Mechanistically, COPA is a structural component of COPI coat complexes that facilitate vesicle budding and cargo transport between compartments of the secretory system. Mutations in COPA have been associated with autoinflammation and autoimmunity, systemic, with immune dysregulation, suggesting that disruption of intracellular protein transport through COPI dysfunction can compromise immune homeostasis. The disease association indicates that proper secretory pathway function, mediated by COPA, is critical for appropriate immune cell function and prevention of autoinflammatory responses. Understanding COPA's role in vesicular transport provides insights into how defects in fundamental cellular trafficking mechanisms can precipitate systemic immune dysregulation and autoimmune disease.

Sources cited
1
COPA protein structure and localization to COPI vesicle coat, Golgi membrane, and endoplasmic reticulum - from provided annotations and NCBI/UniProt databases
PMID: none
2
COPA function in retrograde and anterograde vesicle-mediated transport between Golgi and ER - from GO annotations
PMID: none
3
COPA disease association with autoinflammation and autoimmunity, systemic, with immune dysregulation - from provided disease associations
PMID: none
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
interstitial lung diseaseOpen Targets
0.75Strong
autoimmune interstitial lung disease-arthritis syndromeOpen Targets
0.74Strong
Alzheimer diseaseOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
genetic disorderOpen Targets
0.19Weak
autosomal dominant Alport syndromeOpen Targets
0.12Weak
Systemic autoinflammationOpen Targets
0.11Weak
cervical cancerOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.06Suggestive
activated PI3K-delta syndromeOpen Targets
0.06Suggestive
common variable immunodeficiencyOpen Targets
0.06Suggestive
idiopathic CD4 lymphocytopeniaOpen Targets
0.05Suggestive
immunodeficiency 18Open Targets
0.05Suggestive
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
0.05Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.05Suggestive
Autoinflammation and autoimmunity, systemic, with immune dysregulationUniProt
Pathogenic Variants8
NM_004371.4(COPA):c.698G>A (p.Arg233His)Pathogenic
Autoimmune interstitial lung disease-arthritis syndrome|See cases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 233
NM_004371.4(COPA):c.721G>A (p.Glu241Lys)Pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 241
NM_004371.4(COPA):c.715G>C (p.Ala239Pro)Pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 239
NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)Likely pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 581
NM_004371.4(COPA):c.725T>C (p.Val242Ala)Likely pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 242
NM_004371.4(COPA):c.718T>C (p.Trp240Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 240
NM_004371.4(COPA):c.690G>T (p.Lys230Asn)Pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜…β˜†β˜†β˜†2015β†’ Residue 230
NM_004371.4(COPA):c.3424C>T (p.Arg1142Ter)Pathogenic
Autoimmune interstitial lung disease-arthritis syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 1142
View on ClinVar β†—
Related Genes
KDELR1Protein interaction96%GOLPH3Protein interaction92%TMED10Protein interaction91%SCYL1Protein interaction90%SURF4Protein interaction87%ZW10Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Heart
82%
Lung
70%
Ovary
57%
Liver
54%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
COPAKDELR1GOLPH3TMED10SCYL1SURF4ZW10
PROTEIN STRUCTURE
Preparing viewer…
PDB6PBG Β· 1.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.03–0.10]
RankingsWhere COPA stands among ~20K protein-coding genes
  • #1,127of 20,598
    Most Researched306 Β· top 10%
  • #3,019of 5,498
    Most Pathogenic Variants8
  • #52of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedCOPA
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
From the editor.
PMID: 25455001
J Am Soc Hypertens Β· 2014
1.00
2
Primary hepatic lymphoma.
PMID: 23686662
J Gastrointest Cancer Β· 2014
0.90
3
Biotherapy for lymphoma.
PMID: 11122838
Curr Oncol Rep Β· 2000
0.80
4
[Malignant lymphoma of the thyroid].
PMID: 18018576
Nihon Rinsho Β· 2007
0.76
5
[Thyroid malignant lymphoma].
PMID: 16776195
Nihon Rinsho Β· 2006
0.72