GOLGA7 (Golgin A7)
A golgin protein involved in vesicle tethering and membrane trafficking at the Golgi apparatus
Gene Information Card
| Symbol | GOLGA7 |
|---|---|
| Full Name | golgin A7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 51125 ncbi.nlm.nih.gov/gene/51125 |
| Ensembl ID | ENSG00000147533 |
| UniProt ID | Q7Z5G1 |
| OMIM ID | 613443 |
| HGNC ID | 24843 |
| Aliases | GCP16, GOLGA7A, MGC12966 |
Description
GOLGA7 encodes golgin A7, a peripheral membrane protein localized to the Golgi apparatus. It functions as a component of the golgin family involved in tethering transport vesicles to the Golgi stack, thereby facilitating membrane fusion and maintaining Golgi structure. GOLGA7 interacts with other golgins and small GTPases to regulate intracellular trafficking and secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered GOLGA7 expression may disrupt Golgi trafficking, affecting cell polarity and proliferation; somatic mutations observed in COSMIC | COSMIC v99 |
| Neurodegenerative disorders | Impaired vesicle tethering linked to Golgi fragmentation in neuronal cells; limited direct evidence | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 7.1 | Low |
| Liver | 6.8 | Low |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 7.0 | Low expression |
| A549 | 6.8 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | missense | <0.01% | Unknown functional impact; rare in population databases |
| c.412C>T (p.Arg138Trp) | missense | <0.01% | Predicted possibly damaging by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • Golgi apparatus | • vesicle tethering |
| • membrane docking | • protein transport |
| • Golgi organization |
Pathways
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
• COPI-independent Golgi trafficking
Protein Summary
Golgin A7 is a 187-amino-acid protein with a coiled-coil domain that mediates homodimerization and interactions with other golgins. It is anchored to the Golgi membrane via its C-terminal region and participates in tethering of transport vesicles. The protein is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA7 Knockout HEK293 Cell Line | EDJ-KQ10228 | Human | 51125 | Details Get a Quote |
| GOLGA7B Knockout HEK293 Cell Line | EDJ-KQ10934 | Human | 401647 | Details Get a Quote |
| GOLGA7 Knockout A-549 Cell Line | EDJ-KQ38707 | Human | 51125 | Details Get a Quote |
| GOLGA7 Knockout HCT 116 Cell Line | EDJ-KQ38709 | Human | 51125 | Details Get a Quote |
| GOLGA7 Knockout HeLa Cell Line | EDJ-KQ38710 | Human | 51125 | Details Get a Quote |
| GOLGA7B Knockout HeLa Cell Line | EDJ-KQ60310 | Human | 401647 | Details Get a Quote |
| GOLGA7B Knockout A-549 Cell Line | EDJ-KQ68776 | Human | 401647 | Details Get a Quote |
| GOLGA7B Knockout HCT 116 Cell Line | EDJ-KQ77140 | Human | 401647 | Details Get a Quote |