DNAJC30
DnaJ Heat Shock Protein Family (Hsp40) Member C30
Gene Information Card
| Symbol | DNAJC30 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C30 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 84277 ncbi.nlm.nih.gov/gene/84277 |
| Ensembl ID | ENSG00000105971 |
| UniProt ID | Q96LL9 |
| OMIM ID | 618202 |
| HGNC ID | 16428 |
| Aliases | C7orf30, FLJ20331, HSP40 |
Description
DNAJC30 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which stimulate the ATPase activity of Hsp70 chaperones. The protein localizes to mitochondria and is involved in the assembly and stability of mitochondrial complex I (NADH:ubiquinone oxidoreductase). Mutations in DNAJC30 cause autosomal recessive mitochondrial complex I deficiency and hereditary spastic paraplegia type 79B.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) | Loss-of-function mutations impair complex I assembly, leading to defective oxidative phosphorylation and ATP depletion. | ClinVar, OMIM #618202 |
| Hereditary spastic paraplegia 79B (SPG79B) | Biallelic DNAJC30 variants disrupt mitochondrial chaperone function, causing axonal degeneration in corticospinal tracts. | OMIM #619334, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.8 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.2 | Low expression |
| SH-SY5Y | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152A>G (p.Tyr51Cys) | Missense | Rare | Reduced protein stability and complex I assembly |
| c.278G>A (p.Arg93Gln) | Missense | Rare | Impaired chaperone activity |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants (e.g., start loss, missense) reduce DNAJC30 protein levels or chaperone activity, leading to mitochondrial complex I deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • heat shock protein binding (GO:0031072) |
| • mitochondrion (GO:0005739) | • mitochondrial electron transport (GO:0006120) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
DNAJC30 is a 25 kDa mitochondrial co-chaperone belonging to the DnaJ/Hsp40 family. It contains a conserved J-domain that interacts with Hsp70 proteins to facilitate proper folding and assembly of mitochondrial complex I subunits. The protein is ubiquitously expressed with highest levels in testis and heart. Defects in DNAJC30 impair complex I biogenesis, leading to early-onset neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC30 Knockout HEK293 Cell Line | EDJ-KQ10047 | Human | 84277 | Details Get a Quote |
| DNAJC30 Knockout A-549 Cell Line | EDJ-KQ37069 | Human | 84277 | Details Get a Quote |
| DNAJC30 Knockout HCT 116 Cell Line | EDJ-KQ37070 | Human | 84277 | Details Get a Quote |
| DNAJC30 Knockout HeLa Cell Line | EDJ-KQ35854 | Human | 84277 | Details Get a Quote |
