COG1: Subunit of the Conserved Oligomeric Golgi Complex
Key player in Golgi trafficking and glycosylation; mutations cause congenital disorder of glycosylation type IIg
Gene Information Card
| Symbol | COG1 |
|---|---|
| Full Name | Component of oligomeric Golgi complex 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 9382 ncbi.nlm.nih.gov/gene/9382 |
| Ensembl ID | ENSG00000166685 |
| UniProt ID | Q9Y6Z7 |
| OMIM ID | 606973 |
| HGNC ID | 6545 |
| Aliases | LDLC, MGC:22960 |
Description
The COG1 gene encodes a subunit of the conserved oligomeric Golgi (COG) complex, which is essential for tethering and fusion of transport vesicles within the Golgi apparatus. This complex is critical for proper protein glycosylation and Golgi trafficking. Mutations in COG1 cause congenital disorder of glycosylation type IIg (CDG-IIg), characterized by multisystem abnormalities including developmental delay, hypotonia, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIg (CDG-IIg) | Loss-of-function mutations in COG1 disrupt Golgi trafficking and glycosylation, leading to underglycosylation of serum proteins and cellular glycoproteins. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and altered expression of COG1 have been reported in colorectal tumors, potentially affecting glycosylation pathways. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.7 | Low |
| Kidney | 10.1 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 13.8 | Embryonic kidney cells |
| HepG2 | 11.5 | Hepatocellular carcinoma cells |
| K562 | 9.0 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169G>A (p.Glu57Lys) | Missense | Rare | Loss of function; associated with CDG-IIg |
| c.266T>C (p.Leu89Pro) | Missense | Rare | Loss of function; associated with CDG-IIg |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with CDG-IIg |
Mutation functional classification
Loss of Function (LOF)
Most COG1 mutations are loss-of-function, leading to impaired Golgi trafficking and glycosylation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi to ER retrograde transport | • intra-Golgi vesicle-mediated transport |
| • protein glycosylation | • Golgi organization |
| • tethering complex |
Pathways
• Golgi-to-ER retrograde transport
• COG complex pathway
• N-glycan biosynthesis
Protein Summary
COG1 is a 980-amino acid protein that forms part of the COG complex's lobe A. It interacts with other COG subunits and Rab GTPases to mediate vesicle tethering at the Golgi. The protein is ubiquitously expressed and localizes to the Golgi apparatus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COG1 Knockout HEK293 Cell Line | EDJ-KQ6572 | Human | 9382 | Details Get a Quote |
| COG1 Knockout A-549 Cell Line | EDJ-KQ30778 | Human | 9382 | Details Get a Quote |
| COG1 Knockout HCT 116 Cell Line | EDJ-KQ30779 | Human | 9382 | Details Get a Quote |
| COG1 Knockout HeLa Cell Line | EDJ-KQ30780 | Human | 9382 | Details Get a Quote |
