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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DNAJC5
DnaJ heat shock protein family (Hsp40) member C5
Chromosome 20 · 20q13.33
NCBI Gene: 80331Ensembl: ENSG00000101152.13HGNC: HGNC:16235UniProt: Q9H3Z4
85PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membranemembraneprotein bindingmitochondrionCLN4B diseaseceroid lipofuscinosis, neuronal, 4 (Kufs type)adult neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosis
✦AI Summary

DNAJC5 (cysteine string protein α) is a heat shock protein co-chaperone with dual roles in neuronal protein homeostasis. Primary function: DNAJC5 acts as a co-chaperone for SNAP-25 and other synaptic proteins, facilitating regulated exocytosis and calcium-dependent neurotransmitter release 1. Mechanism: The protein operates through two functionally coupled chaperoning activities—endolysosome-associated DNAJC5 promotes ESCRT-dependent microautophagy, while perinuclear DNAJC5 mediates misfolding-associated protein secretion (MAPS) via interaction with SLC3A2 2. In pathological contexts, DNAJC5 undergoes palmitoylation to form membrane-anchored oligomers that facilitate unconventional α-synuclein secretion 3. Disease relevance: DNAJC5 mutations cause adult neuronal ceroid lipofuscinosis (Kufs disease/CLN4), an autosomal dominant neurodegenerative disorder characterized by lipofuscin accumulation, age-dependent neurodegeneration, and motor deficits 4. Mutations impair normal protein triaging, uncoupling MAPS from microautophagy 2. DNAJC5 dysfunction also associates with parkinsonism through effects on synaptic trafficking 5. Clinical significance: The ubiquitin ligase CHIP-mediated microautophagy represents a potential therapeutic target for restoring lysosomal protection 6, while resveratrol shows neuroprotective promise in disease models 7.

Sources cited
1
DNAJC5 has dual chaperoning activities: endolysosome-associated DNAJC5 promotes microautophagy while perinuclear DNAJC5 mediates MAPS; mutations uncouple these processes causing lipofuscin accumulation
PMID: 35506243
2
DNAJC5 acts as a co-chaperone for HSP70 and is linked to neurodegeneration including neuronal ceroid lipofuscinosis; promotes release of misfolded proteins including α-synuclein
PMID: 36581576
3
DNAJC5 mutations (Leu115Arg, Leu116Δ) cause Kufs disease/CLN4 through gain-of-function mechanism resulting in lipofuscinosis and neurodegeneration; DNAJC5 deficiency alone does not cause disease
PMID: 40397740
4
DNAJC5 undergoes palmitoylation forming membrane-anchored oligomers that facilitate unconventional secretion of α-synuclein, linking it to Parkinson's disease pathology
PMID: 36626307
5
DNAJC5 mutations are genetically associated with parkinsonism and converge functionally on synaptic trafficking and clathrin dynamics pathways
PMID: 31120186
6
CHIP-mediated microautophagy protects lysosomes from CLN4 mutant damage; ectopic CHIP improves lysosomal function and alleviates lipofuscin accumulation in CLN4 disease models
PMID: 40855364
7
DNAJC5 mutations cause adult-onset neuronal lipofuscinosis characterized by shortened lifespan, motor impairment, and age-dependent neurodegeneration; resveratrol shows neuroprotective effects
PMID: 24947438
Disease Associationsⓘ21
CLN4B diseaseOpen Targets
0.80Strong
ceroid lipofuscinosis, neuronal, 4 (Kufs type)Open Targets
0.79Strong
adult neuronal ceroid lipofuscinosisOpen Targets
0.57Moderate
neuronal ceroid lipofuscinosisOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.19Weak
Bilateral tonic-clonic seizureOpen Targets
0.18Weak
CLN4A diseaseOpen Targets
0.18Weak
hypertensionOpen Targets
0.18Weak
Sjogren syndromeOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
malariaOpen Targets
0.08Suggestive
infectionOpen Targets
0.08Suggestive
viral human hepatitis infectionOpen Targets
0.07Suggestive
Myocardial IschemiaOpen Targets
0.06Suggestive
essential hypertensionOpen Targets
0.05Suggestive
pulmonary fibrosisOpen Targets
0.05Suggestive
parasitic infectionOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.04Suggestive
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesOpen Targets
0.04Suggestive
Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominantUniProt
Pathogenic Variants4
NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg)Pathogenic
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)|not provided
★★☆☆2025→ Residue 115
NM_025219.3(DNAJC5):c.343CTC[1] (p.Leu116del)Pathogenic
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)|Neuronal ceroid lipofuscinosis
★★☆☆2023→ Residue 116
NM_025219.3(DNAJC5):c.347T>G (p.Leu116Arg)Pathogenic
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
★☆☆☆2021→ Residue 116
NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup)Pathogenic
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
★☆☆☆2019→ Residue 124
View on ClinVar ↗
Related Genes
HSP90AA1Protein interaction100%HSP90AB1Protein interaction100%HSPA4Protein interaction100%CDC5LProtein interaction100%BUD31Protein interaction100%SNW1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
71%
Heart
69%
Lung
62%
Liver
42%
Ovary
26%
Gene Interaction Network
Click a node to explore
DNAJC5HSP90AA1HSP90AB1HSPA4CDC5LBUD31SNW1
PROTEIN STRUCTURE
Preparing viewer…
PDB2N04 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.20Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.20]
RankingsWhere DNAJC5 stands among ~20K protein-coding genes
  • #5,604of 20,598
    Most Researched85
  • #3,759of 5,498
    Most Pathogenic Variants4
  • #484of 17,882
    Most Constrained (LOEUF)0.20 · top 5%
Genes detectedDNAJC5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 39637217
1.00
2
Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.
PMID: 35506243
Autophagy · 2023
0.90
3
The roles of HSP40/DNAJ protein family in neurodegenerative diseases.
PMID: 36581576
Zhejiang Da Xue Xue Bao Yi Xue Ban · 2022
0.80
4
DNAJC5 facilitates the proliferation and migration of lung adenocarcinoma cells by augmenting EGFR trafficking.
PMID: 40374748
Commun Biol · 2025
0.70
5
DNAJC proteins and pathways to parkinsonism.
PMID: 31120186
FEBS J · 2019
0.60