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COPA

Chr 1q23.2

coat protein complex I subunit alpha

Aliases:
HEP-COP, alpha-COP
MANE:
ENST00000241704.8

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Autoinflammatory disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood interstitial lung disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • autoimmune interstitial lung disease-arthritis syndrome

    0.74
  • interstitial lung disease

    0.70
  • Alzheimer disease

    0.47
  • neurodegenerative disease

    0.46
  • Parkinson disease

    0.46
  • multiple sclerosis

    0.46
  • lysosomal storage disease

    0.46
  • hereditary disease

    0.19
  • autosomal dominant Alport syndrome

    0.12
  • Systemic autoinflammation

    0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Coatomer subunit alpha

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 (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.