COPG1: Coatomer Protein Complex Subunit Gamma 1
A key component of the COPI vesicle coat involved in intracellular protein trafficking between the Golgi and the endoplasmic reticulum.
Gene Information Card
| Symbol | COPG1 |
|---|---|
| Full Name | coatomer protein complex subunit gamma 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 22820 ncbi.nlm.nih.gov/gene/22820 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q9Y678 |
| OMIM ID | 615525 |
| HGNC ID | 2237 |
| Aliases | COPG, DKFZp686B03107 |
Description
COPG1 encodes the gamma subunit of the coatomer protein complex (COPI), which is essential for retrograde vesicular transport from the Golgi apparatus to the endoplasmic reticulum. The COPI complex mediates protein sorting and membrane trafficking, and COPG1 is required for the integrity of the Golgi stack.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| COPG1-related disorder (neurodevelopmental) | Loss-of-function variants impair COPI trafficking, leading to Golgi dysfunction and neuronal defects. | ClinVar; PMID: 30388404 |
| Microcephaly, intellectual disability, and spasticity | Biallelic missense mutations disrupt coatomer assembly and vesicle transport. | OMIM #615525; PMID: 30388404 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 8.1 | Low |
| Lung | 7.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.0 | Moderate expression |
| K562 | 9.2 | Moderate expression |
| HepG2 | 8.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.223C>T (p.Arg75Trp) | Missense | <0.01% | Impaired coatomer binding |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause neurodevelopmental disorder with microcephaly and spasticity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi vesicle transport (GO:0048193) | • COPI vesicle coat (GO:0030126) |
| • intracellular protein transport (GO:0006886) | • GTPase binding (GO:0051020) |
Pathways
• COPI-dependent Golgi-to-ER retrograde transport (Reactome R-HSA-6811434)
• Membrane trafficking (KEGG hsa04144)
Protein Summary
COPG1 is a 874-amino-acid protein that forms part of the heptameric COPI coatomer complex. It contains a N-terminal WD40 domain and a C-terminal domain involved in cargo recognition. The protein localizes to the Golgi apparatus and is essential for retrograde vesicle formation and cargo sorting.
Related Services
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|---|---|---|---|---|
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