DNAJA1
DnaJ Heat Shock Protein Family (Hsp40) Member A1
Gene Information Card
| Symbol | DNAJA1 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 3301 ncbi.nlm.nih.gov/gene/3301 |
| Ensembl ID | ENSG00000086061 |
| UniProt ID | P31689 |
| OMIM ID | 602837 |
| HGNC ID | 5229 |
| Aliases | HDJ2, HSDJ, HSPF4, DJ-2, DNAJA1a |
Description
DNAJA1 encodes a member of the DnaJ/Hsp40 family of co-chaperones. The protein interacts with HSP70 heat shock proteins to regulate protein folding, translocation, and degradation. It plays a role in cellular stress response, protein quality control, and is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of DNAJA1 promotes tumor cell survival by enhancing HSP70 chaperone activity and inhibiting apoptosis. | PMID: 25605274 |
| Huntington disease | DNAJA1 interacts with mutant huntingtin and modulates its aggregation and toxicity. | PMID: 20628056 |
| Parkinson disease | DNAJA1 may influence alpha-synuclein aggregation and cellular proteostasis. | PMID: 23408877 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 18.2 | Medium |
| Heart | 15.1 | Medium |
| Liver | 12.3 | Medium |
| Lung | 10.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HEK293 | 19.7 | Embryonic kidney cell line |
| K562 | 16.3 | Leukemia cell line |
| A549 | 14.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.113C>T (p.Pro38Leu) | Missense | <0.1% | Reported in COSMIC; functional impact unknown |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | COSMIC; potential loss of chaperone activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the J-domain may impair HSP70 interaction and co-chaperone activity.
Gain of Function (GOF)
Not well documented; overexpression in tumors may confer gain-of-function by enhancing stress tolerance.
Dominant Negative (DN)
Not reported for DNAJA1.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • Hsp70 protein binding (GO:0030544) |
| • unfolded protein binding (GO:0051082) | • response to heat (GO:0009408) |
| • ubiquitin protein ligase binding (GO:0031625) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• HSP70 chaperone cycle (Reactome: R-HSA-3371568)
• Cellular response to heat stress (Reactome: R-HSA-3371556)
Protein Summary
DNAJA1 (HDJ2) is a 397-amino acid protein containing a conserved J-domain that mediates interaction with HSP70. It stimulates the ATPase activity of HSP70, facilitating proper protein folding and preventing aggregation. The protein is ubiquitously expressed and localizes to the cytoplasm and nucleus. It is involved in cellular stress responses and has been linked to cancer progression and neurodegenerative diseases.
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