DNAJC1: DnaJ Heat Shock Protein Family (Hsp40) Member C1
A co-chaperone involved in protein folding, endoplasmic reticulum stress response, and potential implications in cancer and neurodegenerative disorders.
Gene Information Card
| Symbol | DNAJC1 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member C1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.31 |
| NCBI Gene ID | 64215 ncbi.nlm.nih.gov/gene/64215 |
| Ensembl ID | ENSG00000119950 |
| UniProt ID | Q96KC8 |
| OMIM ID | 611123 |
| HGNC ID | 30389 |
| Aliases | ERdj1, HTJ1, DnaJ homolog subfamily C member 1 |
Description
DNAJC1 encodes a member of the DnaJ/Hsp40 family of co-chaperones, localized to the endoplasmic reticulum (ER). The protein interacts with BiP (HSPA5) to regulate protein folding and the unfolded protein response (UPR). It plays a role in ER-associated degradation (ERAD) and may influence cellular stress responses. Alterations in DNAJC1 expression have been linked to cancer progression and neurodegenerative conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ER stress and UPR pathways; altered co-chaperone activity may promote tumor cell survival under hypoxic conditions. | COSMIC; literature review (e.g., overexpression in breast cancer cell lines) |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired protein folding and ER stress contribute to amyloid plaque formation and tau pathology. | ClinVar; limited association studies |
| Diabetes (type 2) | ER stress in pancreatic beta cells; DNAJC1 may modulate insulin secretion. | OMIM; experimental models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Pancreas | 8.2 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 5.3 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| MCF7 | 7.4 | Moderate expression in breast cancer cells |
| HepG2 | 6.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Unknown; may affect protein stability |
| c.1120_1121insA | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1120_1121insA) likely result in truncated, non-functional protein, impairing ER chaperone activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DNAJC1.
Dominant Negative (DN)
Not documented; potential dominant-negative effects of missense variants remain speculative.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • response to endoplasmic reticulum stress (GO:0034976) |
| • unfolded protein binding (GO:0051082) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin protein ligase binding (GO:0031625) |
Pathways
• Endoplasmic reticulum stress response (Unfolded Protein Response)
• ER-associated degradation (ERAD)
• Hsp40/Hsp70 chaperone cycle
Protein Summary
DNAJC1 (ERdj1) is a 352-amino acid protein with a conserved J-domain that mediates interaction with Hsp70 chaperones. It is anchored to the ER membrane and facilitates substrate transfer to BiP, promoting proper folding or targeting misfolded proteins for degradation. The protein is ubiquitously expressed with highest levels in testis and pancreas. Its role in ER homeostasis makes it a potential therapeutic target in diseases involving protein misfolding and ER stress.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC19 Knockout HEK293 Cell Line | EDJ-KQ1935 | Human | 131118 | Details Get a Quote |
| DNAJC10 Knockout HEK293 Cell Line | EDJ-KQ3183 | Human | 54431 | Details Get a Quote |
| DNAJC18 Knockout HEK293 Cell Line | EDJ-KQ5069 | Human | 202052 | Details Get a Quote |
| DNAJC13 Knockout HEK293 Cell Line | EDJ-KQ7960 | Human | 23317 | Details Get a Quote |
| DNAJC16 Knockout HEK293 Cell Line | EDJ-KQ7977 | Human | 23341 | Details Get a Quote |
| DNAJC15 Knockout HEK293 Cell Line | EDJ-KQ8985 | Human | 29103 | Details Get a Quote |
| DNAJC14 Knockout HEK293 Cell Line | EDJ-KQ10352 | Human | 85406 | Details Get a Quote |
| DNAJC1 Knockout HEK293 Cell Line | EDJ-KQ13186 | Human | 64215 | Details Get a Quote |
| DNAJC18 Knockout HCT 116 Cell Line | EDJ-KQ27993 | Human | 202052 | Details Get a Quote |
| DNAJC18 Knockout HeLa Cell Line | EDJ-KQ27994 | Human | 202052 | Details Get a Quote |
| DNAJC19 Knockout A-549 Cell Line | EDJ-KQ23233 | Human | 131118 | Details Get a Quote |
| DNAJC19 Knockout HCT 116 Cell Line | EDJ-KQ23235 | Human | 131118 | Details Get a Quote |
| DNAJC19 Knockout HeLa Cell Line | EDJ-KQ23236 | Human | 131118 | 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 |
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