GOLGA4 (Golgin A4)
A key golgin protein involved in Golgi apparatus structure and vesicle tethering
Gene Information Card
| Symbol | GOLGA4 |
|---|---|
| Full Name | golgin A4 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 2803 ncbi.nlm.nih.gov/gene/2803 |
| Ensembl ID | ENSG00000144668 |
| UniProt ID | Q13439 |
| OMIM ID | 602502 |
| HGNC ID | 4429 |
| Aliases | GCP2, GM130, GOLG, MIR-133B |
Description
GOLGA4 encodes golgin A4 (also known as GM130), a peripheral membrane protein localized to the cis-Golgi network. It functions as a tethering factor for vesicle docking and fusion, maintaining Golgi ribbon structure and facilitating intra-Golgi transport. The protein interacts with Rab GTPases and other golgins to regulate membrane traffic and cell polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect Golgi trafficking and cell migration | PMID: 23431136 |
| Neurodegenerative disorders | Disruption of Golgi structure linked to neuronal dysfunction | PMID: 25684226 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Brain | 22.1 | Medium |
| Lung | 18.7 | Medium |
| Liver | 15.3 | Medium |
| Heart | 12.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 45.2 | High expression |
| HEK293 | 38.1 | High expression |
| A549 | 30.5 | Medium expression |
| MCF7 | 28.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown functional impact |
| c.567_568insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely cause truncated protein and loss of tethering function.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • cis-Golgi network |
| • vesicle tethering | • protein binding |
| • membrane docking |
Pathways
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
• Rab regulation of trafficking
Protein Summary
Golgin A4 is a 1002-amino acid coiled-coil protein that forms a complex with GRASP65 and Rab1. It anchors at the cis-Golgi via its C-terminal domain and tethers transport vesicles through N-terminal interactions. It is essential for Golgi stacking and ribbon formation, and its phosphorylation regulates mitotic Golgi fragmentation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA4 Knockout HEK293 Cell Line | EDJ-KQ4742 | Human | 2803 | Details Get a Quote |
| GOLGA4 Knockout HCT 116 Cell Line | EDJ-KQ26259 | Human | 2803 | Details Get a Quote |
| GOLGA4 Knockout A-549 Cell Line | EDJ-KQ27497 | Human | 2803 | Details Get a Quote |
| GOLGA4 Knockout HeLa Cell Line | EDJ-KQ27498 | Human | 2803 | Details Get a Quote |
