DNAJC6

Chr 1p31.3

DnaJ heat shock protein family (Hsp40) member C6

Aliases:: KIAA0473, PARK19
MANE:: ENST00000371069.5

OMIM: 608375 ↗NCBI: 9829 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DNAJC6 · O75061

v62025-08-01

Predicted Aligned Error matrix for DNAJC6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.9/ 100

Low

913 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)18%
Low(50–70)7%
Very low(< 50)47%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Young adult-onset Parkinsonism
0.78
atypical juvenile parkinsonism
0.75
Parkinson disease 19B, early-onset
0.71
young-onset Parkinson disease
0.37
neurodegenerative disease
0.35
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
0.33
hereditary disease
0.19
Familial prostate cancer
0.11
prostate cancer
0.11
Parkinson disease
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Auxilin

May act as a protein phosphatase and/or a lipid phosphatase. Co-chaperone that recruits HSPA8/HSC70 to clathrin-coated vesicles (CCVs) and promotes the ATP-dependent dissociation of clathrin from CCVs and participates in clathrin-mediated endocytosis of synaptic vesicles and their recycling and also in intracellular trafficking (PubMed:18489706). Firstly, binds tightly to the clathrin cages, at a ratio of one DNAJC6 per clathrin triskelion. The HSPA8:ATP complex then binds to the clathrin-auxilin cage, initially at a ratio of one HSPA8 per triskelion leading to ATP hydrolysis stimulation and causing a conformational change in the HSPA8. This cycle is repeated three times to drive to a complex containing the clathrin-auxilin cage associated to three HSPA8:ADP complex. The ATP hydrolysis of the third HSPA8:ATP complex leads to a concerted dismantling of the cage into component triskelia. Then, dissociates from the released triskelia and be recycled to initiate another cycle of HSPA8's recruitment. Also acts during the early steps of clathrin-coated vesicle (CCV) formation through its interaction with the GTP bound form of DNM1 (By similarity)