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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DNAJC11
DnaJ heat shock protein family (Hsp40) member C11
Chromosome 1 · 1p36.31
NCBI Gene: 55735Ensembl: ENSG00000007923.18HGNC: HGNC:25570UniProt: B4DGD5
99PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionprotein bindingMIB complexcristae formationsmoking initiationgestational diabetesAbnormality of the skeletal systemneurodegenerative disease
✦AI Summary

DNAJC11 is a mitochondrial outer membrane protein that plays a critical role in mitochondrial inner membrane organization and cristae formation 12. The protein functions as part of the MICOS (mitochondrial contact site) complex, which is essential for mitochondrial cristae structure and junction formation 12. DNAJC11 associates with multiple mitochondrial protein complexes, including the SAM (sorting assembly machinery) complex and interacts with proteins such as mitofilin, metaxins, and VDACs 23. Beyond structural roles, DNAJC11 regulates mitochondrial distribution by facilitating ARMC1 release from mitochondria, thereby balancing mito-cytoplasmic shuttling and maintaining steady-state mitochondrial distributions 4. The protein contains functionally distinct domains: the DUF3395 domain mediates protein-protein interactions while the J-domain determines mitochondrial localization 3. Mutations in DNAJC11 cause severe neuromuscular pathology in mice, characterized by motor neuron vacuolation, cristae disorganization, muscle weakness, and early lethality 1. The protein is also essential for podocyte cytoskeletal integrity and is regulated by the lncRNA RMRP, which controls DNAJC11 expression to maintain mitochondrial stability 56. DNAJC11 represents a critical component of mitochondrial quality control and cellular energy metabolism.

Sources cited
1
DNAJC11 is involved in mitochondrial cristae formation and causes neuromuscular disease when mutated
PMID: 25111180
2
DNAJC11 exists in a complex with MICOS components including mitofilin, SAM50, and metaxins
PMID: 17624330
3
DNAJC11 interacts with VDACs and ribosomal subunits, with DUF3395 domain mediating protein interactions
PMID: 31550165
4
DNAJC11 facilitates ARMC1 release from mitochondria to control mitochondrial distribution
PMID: 40203102
5
DNAJC11 is essential for podocyte cytoskeletal integrity
PMID: 28709640
6
RMRP lncRNA regulates DNAJC11 expression to maintain mitochondrial stability
PMID: 41719330
Disease Associationsⓘ20
smoking initiationOpen Targets
0.22Weak
gestational diabetesOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.22Weak
neurodegenerative diseaseOpen Targets
0.20Weak
schizophreniaOpen Targets
0.20Weak
hypertensionOpen Targets
0.14Weak
sleep apneaOpen Targets
0.13Weak
diabetes mellitusOpen Targets
0.10Weak
substance abuseOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
mathematical abilityOpen Targets
0.04Suggestive
MHC class II deficiency 4Open Targets
0.04Suggestive
amyotrophic lateral sclerosis type 2, juvenileOpen Targets
0.03Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.03Suggestive
ataxia telangiectasiaOpen Targets
0.03Suggestive
Ataxia-telangiectasiaOpen Targets
0.03Suggestive
hereditary myopathy with lactic acidosis due to ISCU deficiencyOpen Targets
0.03Suggestive
short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets
0.03Suggestive
Triose phosphate-isomerase deficiencyOpen Targets
0.03Suggestive
triosephosphate isomerase deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TOMM5Protein interaction100%TOMM20Protein interaction100%MTX3Protein interaction92%MICOS13Protein interaction88%MICOS10Protein interaction87%APOOLProtein interaction87%
Tissue Expression6 tissues
Heart
100%
Brain
61%
Liver
50%
Ovary
42%
Bone Marrow
36%
Lung
36%
Gene Interaction Network
Click a node to explore
DNAJC11TOMM5TOMM20MTX3MICOS13MICOS10APOOL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NVH1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.28Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.12–0.28]
RankingsWhere DNAJC11 stands among ~20K protein-coding genes
  • #4,832of 20,598
    Most Researched99 · top quartile
  • #1,004of 17,882
    Most Constrained (LOEUF)0.28 · top 10%
Genes detectedDNAJC11
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ARMC1 partitions between distinct complexes and assembles MIRO with MTFR to control mitochondrial distribution.
PMID: 40203102
Sci Adv · 2025
1.00
2
DNAJ Homolog Subfamily C Member 11 Stabilizes SARS-CoV-2 NSP3 to Promote Double-Membrane Vesicle Formation.
PMID: 40872740
Viruses · 2025
0.90
3
Mapping Interactome Networks of DNAJC11, a Novel Mitochondrial Protein Causing Neuromuscular Pathology in Mice.
PMID: 31550165
J Proteome Res · 2019
0.80
4
The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
PMID: 17624330
FEBS Lett · 2007
0.70
5
A splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in mice.
PMID: 25111180
PLoS One · 2014
0.60