DNAJC10: DnaJ Heat Shock Protein Family (Hsp40) Member C10
A key endoplasmic reticulum co-chaperone involved in protein folding and redox homeostasis
Gene Information Card
| Symbol | DNAJC10 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C10 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 54431 ncbi.nlm.nih.gov/gene/54431 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q8IXB1 |
| OMIM ID | 608177 |
| HGNC ID | 24637 |
| Aliases | ERdj5, JPD1, MTHr1 |
Description
DNAJC10 encodes ERdj5, an endoplasmic reticulum (ER)-resident co-chaperone of the Hsp40 family. It contains a J-domain and thioredoxin-like domains, enabling it to reduce disulfide bonds and assist in protein folding. ERdj5 is critical for ER-associated degradation (ERAD) and the unfolded protein response (UPR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | ERdj5 overexpression promotes tumor cell survival by alleviating ER stress and enhancing ERAD of misfolded proteins. | COSMIC; PMID: 25686125 |
| Neurodegenerative disorders | Dysregulation of ERdj5 impairs clearance of misfolded proteins, contributing to ER stress and neuronal death. | PMID: 23911929 |
| Diabetes | ERdj5 modulates insulin secretion and beta-cell survival via ER stress pathways. | PMID: 23395176 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Pancreas | 9.8 | Medium |
| Kidney | 8.5 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocellular carcinoma line |
| HeLa | 11.2 | Cervical adenocarcinoma line |
| HEK293 | 10.8 | Embryonic kidney line |
| MCF7 | 9.3 | Breast cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Alters thioredoxin domain; potential loss of reductase activity |
| c.1567G>A (p.Glu523Lys) | Missense | <0.01% | Located in J-domain; may impair Hsp70 interaction |
| c.2014_2015insA | Frameshift | <0.01% | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely cause loss of ERdj5 chaperone and reductase activity, impairing ERAD.
Gain of Function (GOF)
Not reported in literature or curated databases.
Dominant Negative (DN)
Not described; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin protein ligase binding (GO:0031625) | • unfolded protein binding (GO:0051082) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD)
• Unfolded protein response (UPR)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
ERdj5 (DNAJC10) is a 793-amino acid ER-resident protein with an N-terminal J-domain and four thioredoxin-like domains. It acts as a reductase and isomerase for disulfide bonds, cooperating with BiP and EDEM1 to facilitate ERAD. ERdj5 is upregulated under ER stress and is implicated in cancer cell survival, neurodegeneration, and metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC10 Knockout HEK293 Cell Line | EDJ-KQ3183 | Human | 54431 | Details Get a Quote |
| DNAJC10 Knockout A-549 Cell Line | EDJ-KQ24613 | Human | 54431 | Details Get a Quote |
| DNAJC10 Knockout HCT 116 Cell Line | EDJ-KQ24614 | Human | 54431 | Details Get a Quote |
| DNAJC10 Knockout HeLa Cell Line | EDJ-KQ24615 | Human | 54431 | Details Get a Quote |
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