DNAJC5B
DnaJ Heat Shock Protein Family (Hsp40) Member C5 Beta
Gene Information Card
| Symbol | DNAJC5B |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C5 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 85479 ncbi.nlm.nih.gov/gene/85479 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9UDY4 |
| OMIM ID | 611169 |
| HGNC ID | 24646 |
| Aliases | CSP-beta, DNAJC5B, FLJ11106 |
Description
DNAJC5B encodes a member of the DnaJ/Hsp40 family of co-chaperones, specifically the cysteine string protein beta (CSP-beta). This protein is involved in regulating chaperone activity, synaptic vesicle exocytosis, and protein folding. It is expressed in various tissues, with notable levels in the brain and testis. Mutations in DNAJC5B have been associated with neurodegenerative phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal Ceroid Lipofuscinosis (NCL) | Loss of chaperone function leads to accumulation of misfolded proteins and lysosomal dysfunction | ClinVar, OMIM |
| Parkinson Disease (PD) | Impaired synaptic vesicle recycling and alpha-synuclein aggregation | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Heart | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 6.8 | Embryonic kidney |
| HeLa | 4.5 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Trp) | Missense | <0.01% | Loss of chaperone activity; associated with NCL |
| c.418G>A (p.Gly140Arg) | Missense | <0.01% | Impaired synaptic function; reported in PD |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg116Trp) reduce co-chaperone activity, leading to protein aggregation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in DNAJC5B.
Dominant Negative (DN)
Some variants may exert dominant-negative effects by interfering with wild-type CSP-beta function.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • neurotransmitter secretion (GO:0007269) |
| • Hsp70 protein binding (GO:0030544) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Unfolded Protein Response (UPR)
• Synaptic Vesicle Cycle
Protein Summary
DNAJC5B encodes CSP-beta, a 198-amino acid protein containing a J-domain that stimulates the ATPase activity of Hsp70 chaperones. It is anchored to synaptic vesicles via palmitoylation and plays a critical role in maintaining synaptic function and proteostasis. Loss of CSP-beta function leads to neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC5B Knockout HEK293 Cell Line | EDJ-KQ10377 | Human | 85479 | Details Get a Quote |
| DNAJC5B Knockout HeLa Cell Line | EDJ-KQ57726 | Human | 85479 | Details Get a Quote |
| DNAJC5B Knockout A-549 Cell Line | EDJ-KQ66223 | Human | 85479 | Details Get a Quote |
| DNAJC5B Knockout HCT 116 Cell Line | EDJ-KQ74645 | Human | 85479 | Details Get a Quote |
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