ERGIC1
Endoplasmic Reticulum-Golgi Intermediate Compartment 1
Gene Information Card
| Symbol | ERGIC1 |
|---|---|
| Full Name | Endoplasmic Reticulum-Golgi Intermediate Compartment 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 57222 ncbi.nlm.nih.gov/gene/57222 |
| Ensembl ID | ENSG00000113721 |
| UniProt ID | Q969X5 |
| OMIM ID | 617030 |
| HGNC ID | 29237 |
| Aliases | ERGIC-32, p58, LMAN2, gp58 |
Description
ERGIC1 encodes a protein localized to the endoplasmic reticulum-Golgi intermediate compartment (ERGIC). It functions as a lectin that binds high-mannose oligosaccharides and facilitates the transport of glycoproteins from the ER to the Golgi apparatus. The protein is also involved in quality control and recycling of ER-resident chaperones.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (CDG-II) | Defective ERGIC1 leads to impaired glycoprotein trafficking and glycosylation abnormalities | PMID: 25683120 |
| Neurodevelopmental disorder with hypotonia and dysmorphic features | Loss-of-function mutations in ERGIC1 disrupt ER-Golgi transport, affecting neuronal development | ClinVar: RCV000626267 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.3 | Medium |
| Kidney | 8.7 | Medium |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HeLa | 9.8 | Cervical adenocarcinoma cell line |
| HEK293 | 8.1 | Embryonic kidney cell line |
| K562 | 4.3 | Chronic myelogenous leukemia cell line |
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, predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Impaired lectin binding, reduced protein stability |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.01% | Disrupts coiled-coil domain, altered localization |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce protein expression or lectin activity.
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)
| • ER to Golgi transport | • protein glycosylation |
| • lectin activity | • endoplasmic reticulum-Golgi intermediate compartment |
| • mannose binding |
Pathways
• ER to Golgi vesicle-mediated transport
• N-glycan trimming in the ER and Golgi
Protein Summary
ERGIC1 is a 32 kDa type I transmembrane protein with a luminal carbohydrate recognition domain (CRD) that binds high-mannose glycans. It cycles between the ER and ERGIC via COPI and COPII vesicles, playing a key role in glycoprotein sorting and quality control. The protein forms homodimers and interacts with other ERGIC components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERGIC1 Knockout HEK293 Cell Line | EDJ-KQ13315 | Human | 57222 | Details Get a Quote |
| ERGIC1 Knockout A-549 Cell Line | EDJ-KQ42777 | Human | 57222 | Details Get a Quote |
| ERGIC1 Knockout HCT 116 Cell Line | EDJ-KQ42778 | Human | 57222 | Details Get a Quote |
| ERGIC1 Knockout HeLa Cell Line | EDJ-KQ42779 | Human | 57222 | Details Get a Quote |
