COPZ1 Gene - Coatomer Subunit Zeta 1
Essential component of the COPI coatomer complex involved in intracellular protein trafficking
Gene Information Card
| Symbol | COPZ1 |
|---|---|
| Full Name | Coatomer Subunit Zeta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 22818 ncbi.nlm.nih.gov/gene/22818 |
| Ensembl ID | ENSG00000111445 |
| UniProt ID | P61923 |
| OMIM ID | 615472 |
| HGNC ID | 2232 |
| Aliases | CGI-120, zeta-COP, zeta1-COP |
Description
COPZ1 encodes the zeta subunit of the coatomer protein complex I (COPI), which coats vesicles involved in retrograde transport from the Golgi apparatus to the endoplasmic reticulum. The zeta subunit is essential for complex assembly and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered COPZ1 expression may affect protein trafficking and cell proliferation | COSMIC; literature |
| Neurodegenerative disorders | Dysregulation of COPI transport linked to neuronal dysfunction | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Brain | 7.2 | Low |
| Heart | 6.9 | Low |
| Lung | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HEK293 | 14.7 | Embryonic kidney cell line |
| K562 | 11.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown effect |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of COPI function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein transport | • Vesicle-mediated transport |
| • Golgi to ER retrograde transport | • COPI coat assembly |
Pathways
• COPI-dependent Golgi-to-ER retrograde traffic
• Intracellular protein transport
Protein Summary
COPZ1 is a 20 kDa protein that forms part of the COPI coatomer complex. It is ubiquitously expressed and localizes to the Golgi apparatus. The protein interacts with other coatomer subunits to mediate vesicle budding and cargo selection.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
