DNAJC6
Auxilin
Also known as: AUXI_HUMAN, KIAA0473, PARK19
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75061
- Gene
- DNAJC6
- Ensembl
- ENSG00000116675
- Chromosome
- 1
- Canonical length
- 913 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Plasma membrane,Cytosol
OverviewNCBI Gene
DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
913 residues, UniProt reviewed canonical sequence.
>O75061|DNAJC6
1 MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS RVIQSVTSYT
61 KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS RHLDHYTVYN LSPKSYRTAK
121 FHSRVSECSW PIRQAPSLHN LFAVCRNMYN WLLQNPKNVC VVHCLDGRAA SSILVGAMFI
181 FCNLYSTPGP AIRLLYAKRP GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP
241 IPFFNKQRNG CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
301 YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP EKYPQLFQVT
361 LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD TLALGGQAPI DIPPDNPRHY
421 GQSGFFASLC WQDQKSEKSF CEEDHAALVN QESEQSDDEL LTLSSPHGNA NGDKPHGVKK
481 PSKKQQEPAA PPPPEDVDLL GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG
541 QSGVEDVFHP SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
601 NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM GSKSAATSPT
661 GSSHGTPTHQ SKPQTLDPFA DLGTLGSSSF ASKPTTPTGL GGGFPPLSSP QKASPQPMGG
721 GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP NYNVSFSAMP GGQNERGKGS SNLEGKQKAA
781 DFEDLLSGQG FNAHKDKKGP RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM
841 HTVLWAGETK WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
901 WSEFENQGQK PLYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAJC6 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
- 90 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 90 nTPM
- spinal cord: 56 nTPM
- midbrain: 50 nTPM
- retina: 49 nTPM
- hypothalamus: 46 nTPM
- hippocampal formation: 42 nTPM
Single-cell type
- oligodendrocytes: 1,220 nCPM
- brain excitatory neurons: 321 nCPM
- other brain neurons: 307 nCPM
- lactotrophs: 257 nCPM
- brain inhibitory neurons: 248 nCPM
- thyrotrophs: 217 nCPM
Immune cell
- gdT-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- white matter: 284 nTPM
- pons: 260 nTPM
- midbrain: 233 nTPM
- hypothalamus: 221 nTPM
- cerebral cortex: 213 nTPM
- medulla oblongata: 212 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAJC6.
Disease | AllUniProt
Conditions DNAJC6 is implicated in, by any mechanism.
- Parkinson disease 19A, juvenile-onset (PARK19A) MIM:615528
- Parkinson disease 19B, early-onset (PARK19B) MIM:615528
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 399 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Juvenile onset Parkinson disease 19A
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- Prostate cancer
- Parkinson disease 19B, early-onset
- DNAJC6-related disorder
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)
- 0.22
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.6
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- clathrin coat disassembly
- clathrin-dependent endocytosis
- intracellular transport
- regulation of clathrin coat assembly
- regulation of clathrin-dependent endocytosis
- synaptic vesicle recycling
- synaptic vesicle uncoating
Molecular functions
- clathrin binding
- clathrin heavy chain binding
- heat shock protein binding
- phosphoprotein phosphatase activity
- SH3 domain binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNAJC6 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 DNAJC6 as an antibody target. Whether an autoantibody or antibody against DNAJC6 could matter depends on whether native DNAJC6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAJC6 is annotated at the cell surface, where native DNAJC6 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 DNAJC6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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