DNAJC5
DnaJ homolog subfamily C member 5
Also known as: CLN4, DNAJC5A, DNJC5_HUMAN, FLJ00118, FLJ13070
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H3Z4
- Gene
- DNAJC5
- Ensembl
- ENSG00000101152
- Chromosome
- 20
- Canonical length
- 198 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Golgi apparatus,Vesicles,Perinuclear theca,Principal piece,End piece
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
198 residues, UniProt reviewed canonical sequence.
>Q9H3Z4|DNAJC5
1 MADQRQRSLS TSGESLYHVL GLDKNATSDD IKKSYRKLAL KYHPDKNPDN PEAADKFKEI
61 NNAHAILTDA TKRNIYDKYG SLGLYVAEQF GEENVNTYFV LSSWWAKALF VFCGLLTCCY
121 CCCCLCCCFN CCCGKCKPKA PEGEETEFYV SPEDLEAQLQ SDEREATDTP IVIQPASATE
181 TTQLTADSHP SYHTDGFNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAJC5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 53 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 53 nTPM
- cerebellum: 52 nTPM
- basal ganglia: 43 nTPM
- hypothalamus: 37 nTPM
- amygdala: 33 nTPM
- esophagus: 32 nTPM
Single-cell type
- esophageal apical cells: 321 nCPM
- late spermatids: 200 nCPM
- microglia: 107 nCPM
- neutrophils: 99 nCPM
- choroid plexus epithelial cells: 94 nCPM
- neutrophil progenitors: 94 nCPM
Immune cell
- plasmacytoid DC: 3.9 nTPM
- intermediate monocyte: 3.7 nTPM
- classical monocyte: 3.2 nTPM
- gdT-cell: 3.2 nTPM
- neutrophil: 3.1 nTPM
- non-classical monocyte: 3.1 nTPM
Brain region
- cerebral cortex: 118 nTPM
- hippocampal formation: 110 nTPM
- pons: 106 nTPM
- hypothalamus: 106 nTPM
- basal ganglia: 104 nTPM
- amygdala: 98 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAJC5.
Disease | AllUniProt
Conditions DNAJC5 is implicated in, by any mechanism.
- Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant (CLN4B) MIM:162350
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 416 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Neuronal ceroid lipofuscinosis
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.48
- gnomAD pLI
- 0.81
- gnomAD missense Z
- 1.79
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- exocytosis
- negative regulation of neuron apoptotic process
- neuron apoptotic process
- protein folding
- regulated exocytosis
- regulation of synaptic vesicle cycle
- synaptic vesicle exocytosis
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAJC5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAJC5 as an antibody target. Whether an autoantibody or antibody against DNAJC5 could matter depends on whether native DNAJC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAJC5 is annotated at the cell surface, where native DNAJC5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DNAJC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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