GOLT1B Gene - Golgi Transport 1B
Comprehensive genomic and functional annotation of GOLT1B, a component of the vesicle tethering complex involved in ER-to-Golgi transport.
Gene Information Card
| Symbol | GOLT1B |
|---|---|
| Full Name | Golgi Transport 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 51026 ncbi.nlm.nih.gov/gene/51026 |
| Ensembl ID | ENSG00000111752 |
| UniProt ID | Q9Y3R0 |
| OMIM ID | 616543 |
| HGNC ID | 24988 |
| Aliases | GOT1B, CGI-141, HSPC107, MSTP028 |
Description
GOLT1B (Golgi Transport 1B) encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, which mediates tethering of vesicles to the Golgi apparatus during ER-to-Golgi transport. The protein is involved in retrograde vesicle trafficking and maintenance of Golgi structure. Mutations and altered expression have been implicated in congenital disorders of glycosylation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II | Defective vesicle tethering leads to mislocalization of glycosylation enzymes | OMIM #616543 |
| Colorectal cancer | Overexpression associated with poor prognosis; potential role in tumor progression | COSMIC; PubMed studies |
| Hepatocellular carcinoma | Upregulation linked to increased cell proliferation and migration | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Heart | 7.3 | Low |
| Lung | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.1 | Hepatocellular carcinoma cell line |
| HEK293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| A549 | 8.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GOLT1B are associated with congenital disorders of glycosylation due to impaired vesicle tethering.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi vesicle transport | • vesicle tethering |
| • ER to Golgi vesicle-mediated transport | • protein transport |
| • Golgi organization |
Pathways
• COG complex mediated vesicle tethering
• ER-to-Golgi anterograde transport
• Retrograde vesicle transport
Protein Summary
The GOLT1B protein (UniProt Q9Y3R0) is a 167-amino acid component of the COG complex, localized to the Golgi membrane. It contains a coiled-coil domain and interacts with other COG subunits to tether transport vesicles. The protein is essential for proper glycosylation and Golgi integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOLT1B Knockout HEK293 Cell Line | EDJ-KQ1897 | Human | 51026 | Details Get a Quote |
| GOLT1B Knockout A-549 Cell Line | EDJ-KQ21801 | Human | 51026 | Details Get a Quote |
| GOLT1B Knockout HCT 116 Cell Line | EDJ-KQ21802 | Human | 51026 | Details Get a Quote |
| GOLT1B Knockout HeLa Cell Line | EDJ-KQ21803 | Human | 51026 | Details Get a Quote |
