GOLGA5: Golgin A5, a Golgi-associated protein implicated in cancer and cellular trafficking
Comprehensive genomic and functional overview of GOLGA5, including its role in vesicle transport, oncogenic fusions, and expression across tissues.
Gene Information Card
| Symbol | GOLGA5 |
|---|---|
| Full Name | golgin A5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 9950 ncbi.nlm.nih.gov/gene/9950 |
| Ensembl ID | ENSG00000100802 |
| UniProt ID | Q8TBA6 |
| OMIM ID | 606209 |
| HGNC ID | 4428 |
| Aliases | GOLIM5, GCP5, PTC5, RET-fused gene 5 |
Description
GOLGA5 encodes golgin A5, a member of the golgin family of coiled-coil proteins that localize to the Golgi apparatus. It functions in tethering vesicles to the Golgi membrane, maintaining Golgi structure, and facilitating intra-Golgi transport. GOLGA5 is also known as a fusion partner with the RET receptor tyrosine kinase in papillary thyroid carcinoma (PTC5).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Papillary thyroid carcinoma | Chromosomal rearrangement fusing GOLGA5 to RET (PTC5) leads to constitutive RET kinase activation, driving oncogenesis. | PMID: 7906419; COSMIC |
| Breast cancer | Overexpression and copy number gains of GOLGA5 observed in some breast tumors, potentially affecting Golgi dynamics. | PMID: 25691885; COSMIC |
| Lung adenocarcinoma | Somatic mutations and altered expression reported, though functional significance remains under investigation. | COSMIC; TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.3 | Medium |
| Testis | 9.8 | Medium |
| Brain | 7.5 | Low |
| Lung | 6.2 | Low |
| Breast | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.4 | Lung adenocarcinoma cell line |
| MCF7 | 8.7 | Breast cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
| K562 | 6.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| GOLGA5-RET fusion (PTC5) | Structural variant (rearrangement) | Rare in sporadic PTC; recurrent | Constitutive RET kinase activation |
| p.Arg123Trp | Missense | <0.1% (COSMIC) | Unknown; predicted possibly damaging |
| p.Glu456Lys | Missense | <0.1% (COSMIC) | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in GOLGA5.
Gain of Function (GOF)
GOLGA5-RET fusion acts as a gain-of-function oncogene via constitutive RET kinase signaling.
Dominant Negative (DN)
Not described for GOLGA5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vesicle-mediated transport (R-HSA-5653656)
• Golgi-to-ER retrograde transport (R-HSA-8856688)
• RET signaling (R-HSA-8853659)
Protein Summary
Golgin A5 is a 789-amino-acid coiled-coil protein that localizes to the cis-Golgi network. It interacts with Rab GTPases and other golgins to tether transport vesicles. The protein contains a C-terminal GRIP domain responsible for Golgi targeting. In cancer, the N-terminal region of GOLGA5 can fuse with the kinase domain of RET, producing a constitutively active oncoprotein.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGA5 Knockout HEK293 Cell Line | EDJ-KQ1730 | Human | 9950 | Details Get a Quote |
| GOLGA5 Knockout A-549 Cell Line | EDJ-KQ22897 | Human | 9950 | Details Get a Quote |
| GOLGA5 Knockout HCT 116 Cell Line | EDJ-KQ22899 | Human | 9950 | Details Get a Quote |
| GOLGA5 Knockout HeLa Cell Line | EDJ-KQ22900 | Human | 9950 | Details Get a Quote |
