GOLGB1
Golgin B1, a key structural component of the Golgi apparatus involved in vesicle tethering and Golgi ribbon formation.
Gene Information Card
| Symbol | GOLGB1 |
|---|---|
| Full Name | golgin B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 2804 ncbi.nlm.nih.gov/gene/2804 |
| Ensembl ID | ENSG00000173230 |
| UniProt ID | Q14789 |
| OMIM ID | 602062 |
| HGNC ID | 4429 |
| Aliases | GCP, GCP60, GOLPH1, MACS, PIG60 |
Description
GOLGB1 encodes golgin B1, a peripheral membrane protein localized to the Golgi apparatus. It functions in maintaining Golgi structure, vesicle tethering, and trafficking. The protein interacts with small GTPases and is involved in the formation of the Golgi ribbon. Mutations or altered expression of GOLGB1 have been implicated in cancer and neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or altered splicing may disrupt Golgi trafficking and promote tumorigenesis. | COSMIC, NCBI |
| Neurodegenerative disorders | Dysregulation of Golgi structure may affect neuronal function and survival. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | High expression |
| HEK293 | 8.7 | Medium expression |
| A549 | 7.1 | Medium expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.1% | Unknown functional impact |
| c.4567_4568insA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely impair Golgi tethering and structure.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
Not reported for GOLGB1.
View complete mutation data：
Gene Ontology (GO)
| • Golgi apparatus | • vesicle tethering |
| • protein transport | • Golgi ribbon formation |
| • membrane docking |
Pathways
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
• Intra-Golgi trafficking
Protein Summary
Golgin B1 is a 60 kDa coiled-coil protein that localizes to the cytoplasmic face of the Golgi apparatus. It tethers transport vesicles and maintains Golgi ribbon integrity through interactions with Rab GTPases and other golgins. The protein is essential for proper Golgi function and cellular homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLGB1 Knockout HEK293 Cell Line | EDJ-KQ3971 | Human | 2804 | Details Get a Quote |
| GOLGB1 Knockout A-549 Cell Line | EDJ-KQ27491 | Human | 2804 | Details Get a Quote |
| GOLGB1 Knockout HCT 116 Cell Line | EDJ-KQ27492 | Human | 2804 | Details Get a Quote |
| GOLGB1 Knockout HeLa Cell Line | EDJ-KQ27493 | Human | 2804 | Details Get a Quote |
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