ERGIC3
ERGIC and Golgi 3
Gene Information Card
| Symbol | ERGIC3 |
|---|---|
| Full Name | ERGIC and Golgi 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 51614 ncbi.nlm.nih.gov/gene/51614 |
| Ensembl ID | ENSG00000125991 |
| UniProt ID | Q9Y282 |
| OMIM ID | 616991 |
| HGNC ID | HGNC:29323 |
| Aliases | ERGIC-53L, ERGIC2, C20orf47, dJ477O4.1, ERGIC3_HUMAN |
Description
ERGIC3 encodes a protein that is a component of the ER-Golgi intermediate compartment (ERGIC). It functions in vesicular transport between the endoplasmic reticulum and Golgi apparatus, and is involved in protein quality control and trafficking. The protein is a type I transmembrane lectin that binds mannose residues and may play a role in glycoprotein transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of ERGIC3 promotes cell proliferation and migration, possibly through modulation of EGFR signaling | PMID: 25642768 |
| Lung cancer | Upregulation of ERGIC3 correlates with poor prognosis and may enhance tumor growth via AKT pathway | PMID: 29187723 |
| Colorectal cancer | ERGIC3 overexpression linked to increased invasion and metastasis | PMID: 30523342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Colon | 7.1 | Medium |
| Pancreas | 6.8 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 10.1 | Lung adenocarcinoma cell line |
| HT-29 | 9.5 | Colorectal adenocarcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1010G>A (p.Arg337His) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.1234_1235insA (p.Thr412Asnfs*2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr412Asnfs*2) are predicted to cause loss of function through nonsense-mediated decay or truncation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • retrograde vesicle-mediated transport (GO:0006890) |
| • protein binding (GO:0005515) | • carbohydrate binding (GO:0030246) |
| • integral component of membrane (GO:0016021) |
Pathways
• REACT:21333 - Vesicle-mediated transport
• REACT:2041 - ER to Golgi transport
• KEGG:04141 - Protein processing in endoplasmic reticulum
Protein Summary
ERGIC3 is a 383-amino acid type I transmembrane protein localized to the ER-Golgi intermediate compartment. It contains a luminal carbohydrate recognition domain (CRD) that binds high-mannose oligosaccharides, a transmembrane domain, and a short cytoplasmic tail. The protein forms homodimers and heterodimers with ERGIC-53 (LMAN1) and is essential for efficient trafficking of glycoproteins. It is ubiquitously expressed with highest levels in liver and lung.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERGIC3 Knockout HEK293 Cell Line | EDJ-KQ1985 | Human | 51614 | Details Get a Quote |
| ERGIC3 Knockout A-549 Cell Line | EDJ-KQ21965 | Human | 51614 | Details Get a Quote |
| ERGIC3 Knockout HeLa Cell Line | EDJ-KQ21967 | Human | 51614 | Details Get a Quote |
| ERGIC3 Knockout HCT 116 Cell Line | EDJ-KQ20671 | Human | 51614 | Details Get a Quote |
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