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GeneE
23 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.
COPB1
coat protein complex I subunit beta 1
Chromosome 11 Β· 11p15.2
NCBI Gene: 1315Ensembl: ENSG00000129083.14HGNC: HGNC:2231UniProt: P53618
262PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolGolgi apparatusprotein bindingmembraneBaralle-Macken syndromeAlzheimer diseaselysosomal storage diseaseneurodegenerative disease
✦AI Summary

COPB1 encodes a critical subunit of the coatomer protein complex I (COPI), which mediates vesicle-mediated transport between the endoplasmic reticulum and Golgi apparatus 12. The protein plays essential roles in retrograde transport from Golgi to ER and maintains cellular membrane trafficking homeostasis 3. COPB1 functions in multiple cellular processes including lipid homeostasis, autophagy through early endosome function, and organellar compartmentalization of secretory compartments 1. The protein interacts with various cellular components, including the Vac14-Fig4 complex involved in endosomal maturation and STING signaling pathways 13. Mechanistically, COPB1 knockdown disrupts STING homeostasis, preventing its retrieval from Golgi to ER, which activates type I interferon signaling 3. COPB1 is clinically significant as mutations cause Baralle-Macken syndrome, a rare autosomal recessive neurological disorder affecting early brain development 4. The protein is also implicated in cancer progression, with upregulation promoting breast cancer metastasis through enhanced ER-Golgi trafficking 2, and shows elevated expression across multiple cancer types with poor prognosis 5. COPB1 demonstrates antiviral therapeutic potential, as it is essential for both influenza A virus and SARS-CoV-2 infection 6.

Sources cited
1
COPB1 interacts with Vac14-Fig4 complex and COPI subunits in endosomal dynamics
PMID: 34554760
2
COPB1 upregulation promotes breast cancer metastasis through enhanced ER-Golgi trafficking
PMID: 29249802
3
COPB1 knockdown disrupts STING homeostasis and activates type I interferon signaling
PMID: 40115189
4
COPB1 mutations cause Baralle-Macken syndrome, a neurological disorder affecting brain development
PMID: 40396222
5
COPB1 shows elevated expression across multiple cancer types with poor prognosis
PMID: 32986658
6
COPB1 is essential for both influenza A virus and SARS-CoV-2 infection
PMID: 37758692
Disease Associationsβ“˜21
Baralle-Macken syndromeOpen Targets
0.60Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.40Weak
cataractOpen Targets
0.39Weak
Severe intellectual disabilityOpen Targets
0.39Weak
vitamin D deficiencyOpen Targets
0.34Weak
Delayed speech and language developmentOpen Targets
0.33Weak
Failure to thriveOpen Targets
0.33Weak
Short statureOpen Targets
0.33Weak
skeletal dysplasiaOpen Targets
0.33Weak
microcephalyOpen Targets
0.33Weak
ImmunodeficiencyOpen Targets
0.26Weak
vitamin deficiency disorderOpen Targets
0.14Weak
rectosigmoid junction neoplasmOpen Targets
0.10Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Baralle-Macken syndromeUniProt
Pathogenic Variants3
NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)Pathogenic
Severe intellectual disability;Immunodeficiency;Cataract;Microcephaly|Baralle-Macken syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 551
NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)Pathogenic
Skeletal dysplasia;Short stature;Failure to thrive;Delayed speech and language development
β˜†β˜†β˜†β˜†2022β†’ Residue 701
NM_001144061.2(COPB1):c.957+1G>TPathogenic
Severe intellectual disability;Cataract;Microcephaly|Baralle-Macken syndrome
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
STX18Protein interaction100%STX5Protein interaction100%KDELR1Protein interaction96%SEC24BProtein interaction96%GOLPH3Protein interaction92%KDELR2Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
87%
Liver
82%
Heart
77%
Ovary
69%
Brain
51%
Gene Interaction Network
Click a node to explore
COPB1STX18STX5KDELR1SEC24BGOLPH3KDELR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P53618
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.17 [0.11–0.27]
RankingsWhere COPB1 stands among ~20K protein-coding genes
  • #1,439of 20,598
    Most Researched262 Β· top 10%
  • #3,919of 5,498
    Most Pathogenic Variants3
  • #904of 17,882
    Most Constrained (LOEUF)0.27 Β· top 10%
Genes detectedCOPB1
Sources retrieved23 papers
Response timeβ€”
πŸ“„ Sources
23β–Ό
1
Proteomic and genetic analyses of influenza A viruses identify pan-viral host targets.
PMID: 37758692
Nat Commun Β· 2023
1.00
2
CircSNX25 mediated by SP1 promotes the carcinogenesis and development of triple-negative breast cancer.
PMID: 37331414
Cell Signal Β· 2023
0.90
3
An integrative pan-cancer analysis of COPB1 based on data mining.
PMID: 32986658
Cancer Biomark Β· 2021
0.80
4
COPB1-knockdown induced type I interferon signaling activation inhibits
PMID: 40115189
Front Microbiol Β· 2025
0.70
5
Malignancy in Adults with Inborn Errors of Immunity: A Retrospective Single-Center Study.
PMID: 40993321
J Clin Immunol Β· 2025
0.60