DNAJB1 Gene - DnaJ Heat Shock Protein Family (Hsp40) Member B1
A comprehensive guide to DNAJB1: function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DNAJB1 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member B1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 3337 ncbi.nlm.nih.gov/gene/3337 |
| Ensembl ID | ENSG00000132002 |
| UniProt ID | P25685 |
| OMIM ID | 604572 |
| HGNC ID | 2920 |
| Aliases | HSPF1, Hsp40, Sis1, HDJ-1, DnaJ homolog subfamily B member 1 |
Description
DNAJB1 encodes a member of the DnaJ/Hsp40 family of heat shock proteins. This protein acts as a co-chaperone that stimulates the ATPase activity of Hsp70 chaperones, playing a critical role in protein folding, refolding of misfolded proteins, and protection from cellular stress. It is ubiquitously expressed and involved in various cellular processes including protein quality control, signal transduction, and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholangiocarcinoma (DNAJB1-PRKACA fusion) | Fusion gene leads to constitutive activation of PRKACA, driving tumorigenesis | COSMIC, ClinVar |
| Hepatocellular carcinoma | Overexpression of DNAJB1 may contribute to stress resistance and tumor progression | COSMIC |
| Neurodegenerative diseases (e.g., Huntington's, Parkinson's) | Impaired chaperone function may exacerbate protein aggregation | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Heart | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 9.2 | Neuroblastoma cell line |
| HEK293 | 11.3 | Embryonic kidney cell line |
| MCF7 | 7.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| DNAJB1-PRKACA fusion | Gene fusion | Rare in cholangiocarcinoma (10-15%) | Oncogenic activation of PRKACA |
| Missense (e.g., p.Gly40Asp) | Missense | <1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; loss of chaperone activity could impair protein homeostasis.
Gain of Function (GOF)
Fusion with PRKACA results in constitutive kinase activity, promoting cell proliferation.
Dominant Negative (DN)
Not reported.
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) |
| • cytoplasm (GO:0005737) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Chaperone-mediated autophagy
• MAPK signaling pathway (via Hsp70 interaction)
Protein Summary
DNAJB1 (Hsp40) is a 340-amino acid protein with a conserved J-domain that mediates interaction with Hsp70. It functions as a co-chaperone to enhance ATP hydrolysis by Hsp70, facilitating proper protein folding and preventing aggregation. The protein is localized in the cytoplasm and nucleus, and its expression is induced by heat shock and other stressors. The DNAJB1-PRKACA fusion is a recurrent driver in fibrolamellar carcinoma and some cholangiocarcinomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJB11 Knockout HEK293 Cell Line | EDJ-KQ2034 | Human | 51726 | Details Get a Quote |
| DNAJB1 Knockout HEK293 Cell Line | EDJ-KQ13180 | Human | 3337 | Details Get a Quote |
| DNAJB12 Knockout HEK293 Cell Line | EDJ-KQ13183 | Human | 54788 | Details Get a Quote |
| DNAJB13 Knockout HEK293 Cell Line | EDJ-KQ13184 | Human | 374407 | Details Get a Quote |
| DNAJB14 Knockout HEK293 Cell Line | EDJ-KQ13185 | Human | 79982 | Details Get a Quote |
| DNAJB11 Knockout A-549 Cell Line | EDJ-KQ22074 | Human | 51726 | Details Get a Quote |
| DNAJB11 Knockout HCT 116 Cell Line | EDJ-KQ22075 | Human | 51726 | Details Get a Quote |
| DNAJB1 Knockout HeLa Cell Line | EDJ-KQ41306 | Human | 3337 | Details Get a Quote |
| DNAJB14 Knockout HCT 116 Cell Line | EDJ-KQ41314 | Human | 79982 | Details Get a Quote |
| DNAJB11 Knockout HeLa Cell Line | EDJ-KQ20777 | Human | 51726 | Details Get a Quote |
| DNAJB1 Knockout A-549 Cell Line | EDJ-KQ42538 | Human | 3337 | Details Get a Quote |
| DNAJB1 Knockout HCT 116 Cell Line | EDJ-KQ42539 | Human | 3337 | Details Get a Quote |
| DNAJB12 Knockout A-549 Cell Line | EDJ-KQ42540 | Human | 54788 | Details Get a Quote |
| DNAJB12 Knockout HCT 116 Cell Line | EDJ-KQ42541 | Human | 54788 | Details Get a Quote |
| DNAJB12 Knockout HeLa Cell Line | EDJ-KQ42542 | Human | 54788 | Details Get a Quote |
