COPB1: Coatomer Subunit Beta 1
A key component of the COPI vesicle coat involved in intracellular protein transport and Golgi homeostasis.
Gene Information Card
| Symbol | COPB1 |
|---|---|
| Full Name | coatomer subunit beta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.2 |
| NCBI Gene ID | 1315 ncbi.nlm.nih.gov/gene/1315 |
| Ensembl ID | ENSG00000129083 |
| UniProt ID | P53618 |
| OMIM ID | 600959 |
| HGNC ID | 2231 |
| Aliases | COPB, beta-COP, MGC16824 |
Description
COPB1 encodes the beta subunit of the coatomer complex (COPI), which coats vesicles transporting proteins from the Golgi apparatus to the endoplasmic reticulum (ER) and within the Golgi. The COPI complex is essential for retrograde transport, Golgi structure maintenance, and lipid homeostasis. Mutations in COPB1 have been linked to developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 73 | Missense mutations impair COPI function, disrupting Golgi-ER trafficking and neuronal development | ClinVar, OMIM #619099 |
| Colorectal cancer | COPB1 overexpression promotes cell proliferation and migration via Wnt/β-catenin signaling | COSMIC, PubMed: 31073015 |
| Breast cancer | Amplification and overexpression of COPB1 correlate with poor prognosis and metastasis | COSMIC, PubMed: 29367642 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Pancreas | 22.1 | High |
| Brain cortex | 15.3 | Medium |
| Heart | 12.8 | Medium |
| Lung | 10.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HepG2 | 29.8 | Hepatocellular carcinoma |
| A549 | 18.5 | Lung adenocarcinoma |
| MCF7 | 14.2 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.791G>A (p.Arg264His) | Missense | <0.01% | Dominant negative; disrupts COPI assembly; associated with intellectual disability |
| c.1124T>C (p.Leu375Pro) | Missense | <0.01% | Loss of function; impairs vesicle formation |
| c.1465G>A (p.Glu489Lys) | Missense | 0.02% | Gain of function; linked to colorectal cancer proliferation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Leu375Pro) impair COPI vesicle formation, leading to Golgi fragmentation and ER stress.
Gain of Function (GOF)
Overexpression or activating mutations (e.g., p.Glu489Lys) enhance cell proliferation and migration in cancer.
Dominant Negative (DN)
p.Arg264His disrupts coatomer assembly, interfering with wild-type function and causing dominant inheritance.
View complete mutation data：
Gene Ontology (GO)
| • intra-Golgi vesicle-mediated transport | • ER to Golgi vesicle-mediated transport |
| • protein transport | • Golgi organization |
| • coatomer complex |
Pathways
• COPI-dependent Golgi-ER retrograde transport
• Vesicle-mediated transport
• Wnt signaling pathway (via β-catenin stabilization)
Protein Summary
COPB1 is a 953-amino-acid protein (107 kDa) that forms part of the heptameric coatomer complex. It contains an N-terminal WD40 domain for cargo recognition and a C-terminal domain for complex assembly. The protein localizes to the Golgi apparatus and is essential for maintaining Golgi structure and function.
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