ERP29 Gene (Endoplasmic Reticulum Protein 29)
A key chaperone in the endoplasmic reticulum involved in protein folding and stress response.
Gene Information Card
| Symbol | ERP29 |
|---|---|
| Full Name | Endoplasmic Reticulum Protein 29 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 10961 ncbi.nlm.nih.gov/gene/10961 |
| Ensembl ID | ENSG00000189221 |
| UniProt ID | P30040 |
| OMIM ID | 602060 |
| HGNC ID | 3431 |
| Aliases | ERp29, ERp31, ERp28, PDI-DB, HEL-S-107 |
Description
ERP29 encodes a resident endoplasmic reticulum (ER) protein with a thioredoxin-like domain. It functions as a molecular chaperone, facilitating protein folding and preventing aggregation. ERP29 is involved in the unfolded protein response (UPR) and plays roles in secretion, calcium homeostasis, and cellular stress adaptation. The gene is widely expressed and has been implicated in cancer, neurodegenerative diseases, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | ERP29 downregulation correlates with poor prognosis; may promote metastasis via ER stress modulation. | PubMed (NCBI) |
| Alzheimer's Disease | Reduced ERP29 levels linked to amyloid-beta accumulation and ER stress. | PubMed (NCBI) |
| Viral Infection (Hepatitis C) | ERP29 interacts with viral proteins to modulate replication. | PubMed (NCBI) |
| Pancreatic Cancer | Overexpression associated with chemoresistance. | PubMed (NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Pancreas | 10.8 | Medium |
| Kidney | 9.2 | Medium |
| Brain | 7.1 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| HeLa | 10.1 | Cervical cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| SH-SY5Y | 7.4 | Neuroblastoma 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% (gnomAD) | Likely loss of start codon; functional impact unknown |
| c.364C>T (p.Arg122Cys) | missense | <0.01% (gnomAD) | May affect thioredoxin domain; no disease association reported |
| c.487G>A (p.Gly163Ser) | missense | <0.01% (gnomAD) | Rare variant; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ERP29.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ERP29.
Dominant Negative (DN)
No dominant-negative mutations reported in ERP29.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • protein folding (GO:0006457) | • response to endoplasmic reticulum stress (GO:0034976) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Unfolded Protein Response (UPR) (Reactome: R-HSA-381119)
• Endoplasmic Reticulum Stress Pathway (KEGG: hsa04141)
• Protein Processing in Endoplasmic Reticulum (KEGG: hsa04141)
Protein Summary
ERP29 (ERp29) is a 29 kDa ER-resident protein with an N-terminal thioredoxin-like domain and a C-terminal dimerization domain. It acts as a chaperone, assisting in the folding of secretory and membrane proteins. Unlike classical protein disulfide isomerases, ERP29 lacks a CXXC active site and functions through a non-catalytic mechanism. It is involved in ER stress response, calcium binding, and transport of proteins from the ER to the Golgi. ERP29 is ubiquitously expressed with highest levels in secretory tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERP29 Knockout HEK293 Cell Line | EDJ-KQ2332 | Human | 10961 | Details Get a Quote |
| ERP29 Knockout A-549 Cell Line | EDJ-KQ24104 | Human | 10961 | Details Get a Quote |
| ERP29 Knockout HCT 116 Cell Line | EDJ-KQ24106 | Human | 10961 | Details Get a Quote |
| ERP29 Knockout HeLa Cell Line | EDJ-KQ24107 | Human | 10961 | Details Get a Quote |
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