DNAJC11: A Key Regulator of Mitochondrial Morphology and Cellular Stress Responses
Comprehensive genomic and proteomic analysis of DNAJC11, a DnaJ/Hsp40 family member implicated in mitochondrial dynamics and disease.
Gene Information Card
| Symbol | DNAJC11 |
|---|---|
| Full Name | DnaJ heat shock protein family (Hsp40) member C11 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 55735 ncbi.nlm.nih.gov/gene/55735 |
| Ensembl ID | ENSG00000117528 |
| UniProt ID | Q9NVH1 |
| OMIM ID | 614827 |
| HGNC ID | 20468 |
| Aliases | FLJ10706, DKFZp686M0521 |
Description
DNAJC11 encodes a member of the DnaJ/Hsp40 family of co-chaperones, characterized by a conserved J-domain that interacts with Hsp70 chaperones to facilitate protein folding, translocation, and degradation. The protein localizes to mitochondria and is essential for maintaining mitochondrial network morphology and cristae organization. DNAJC11 is involved in cellular stress responses and has been implicated in mitochondrial dynamics, apoptosis, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (unspecified) | Disruption of mitochondrial morphology due to loss of DNAJC11 function leads to fragmented mitochondria and impaired cristae structure. | OMIM #614827; PMID: 22983954 |
| Hepatocellular carcinoma | Overexpression of DNAJC11 in liver cancer cells correlates with poor prognosis; may promote cell proliferation and migration. | COSMIC; PMID: 31578389 |
| Colorectal cancer | DNAJC11 mutations found in tumor samples; potential role in tumorigenesis via altered chaperone activity. | COSMIC; PMID: 28270526 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Liver | 8.7 | Medium |
| Brain (cerebellum) | 6.5 | Low |
| Heart | 5.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver cancer) | 10.1 | High expression |
| HeLa (cervical cancer) | 7.4 | Moderate expression |
| A549 (lung cancer) | 6.0 | Low expression |
| K562 (leukemia) | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350Ter) | Nonsense | <0.01% | Loss of function; truncated protein lacking C-terminal domain |
| c.632A>G (p.Tyr211Cys) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1234G>A (p.Gly412Ser) | Missense | 0.02% | Possibly benign; found in COSMIC colorectal cancer samples |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg350Ter) result in premature termination and loss of J-domain or downstream regions, impairing mitochondrial morphology.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DNAJC11.
Dominant Negative (DN)
Not established; potential dominant-negative effects of missense mutations require further study.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • protein folding (GO:0006457) |
| • cell differentiation (GO:0030154) | • unfolded protein binding (GO:0051082) |
| • positive regulation of protein binding (GO:0032092) |
Pathways
• Mitochondrial protein import (REACT_21300)
• Cellular response to heat stress (REACT_24970)
• Hsp70 chaperone cycle (REACT_25000)
Protein Summary
DNAJC11 is a 548-amino acid protein with a conserved N-terminal J-domain (residues 1–70) that mediates interaction with Hsp70 chaperones. It contains a central glycine/phenylalanine-rich region and a C-terminal domain involved in mitochondrial targeting. The protein is predominantly mitochondrial and is required for normal cristae morphology and mitochondrial network integrity. Post-translational modifications include phosphorylation at Ser-123 and Ser-456, which may regulate its activity.
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