DNAJC17: DnaJ Heat Shock Protein Family (Hsp40) Member C17
A co-chaperone gene involved in protein folding and cellular stress response, with emerging links to neurodevelopmental disorders.
Gene Information Card
| Symbol | DNAJC17 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C17 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 55192 ncbi.nlm.nih.gov/gene/55192 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NVM6 |
| OMIM ID | 617103 |
| HGNC ID | 16237 |
| Aliases | FLJ10858, DnaJ (Hsp40) homolog, subfamily C, member 17 |
Description
DNAJC17 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which stimulate the ATPase activity of Hsp70 chaperones to facilitate protein folding, assembly, and degradation. The protein contains a conserved J-domain essential for interaction with Hsp70. DNAJC17 is ubiquitously expressed and has been implicated in cellular stress responses and neurodevelopment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function variants in DNAJC17 impair Hsp70 co-chaperone activity, leading to defective protein homeostasis in neurons. | ClinVar (VCV000988461.1); OMIM #617103 |
| Autism spectrum disorder (susceptibility) | Rare missense variants may alter J-domain function, affecting synaptic protein folding. | ClinVar (VCV000429876.2) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Heart | 5.1 | Low |
| Liver | 3.8 | Low |
| Kidney | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.1 | High expression in embryonic kidney cells |
| SH-SY5Y | 7.4 | Neuroblastoma cell line; moderate expression |
| HeLa | 6.2 | Cervical carcinoma; moderate expression |
| K562 | 4.8 | Leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; predicted loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Alters J-domain; may impair Hsp70 binding |
| c.415G>A (p.Gly139Arg) | Missense | <0.01% | Located in C-terminal domain; functional impact uncertain |
Mutation functional classification
Loss of Function (LOF)
Start-loss and frameshift variants that abolish protein expression or J-domain function are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported for DNAJC17.
Dominant Negative (DN)
Missense variants in the J-domain (e.g., p.Arg68Trp) may act as dominant-negative by competing with wild-type co-chaperones.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • Hsp70 protein binding (GO:0030544) |
| • ATPase activator activity (GO:0001671) | • cytosol (GO:0005829) |
| • nucleus (GO:0005634) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Hsp70 chaperone cycle (Reactome: R-HSA-3371568)
Protein Summary
DNAJC17 is a 222-amino-acid protein with a conserved N-terminal J-domain (residues 1–70) that mediates interaction with Hsp70 chaperones. It is localized to the cytosol and nucleus. The protein facilitates ATP hydrolysis by Hsp70, promoting proper folding of client proteins. Structural studies indicate a helical C-terminal domain of unknown function. Post-translational modifications include phosphorylation at Ser-120.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC17 Knockout HEK293 Cell Line | EDJ-KQ51429 | Human | 55192 | Details Get a Quote |
| DNAJC17 Knockout HeLa Cell Line | EDJ-KQ56549 | Human | 55192 | Details Get a Quote |
| DNAJC17 Knockout A-549 Cell Line | EDJ-KQ65045 | Human | 55192 | Details Get a Quote |
| DNAJC17 Knockout HCT 116 Cell Line | EDJ-KQ73490 | Human | 55192 | Details Get a Quote |
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