DNAJC19

Protein identityUniProt · HPA

UniProt accession

Q96DA6

Gene

DNAJC19

Ensembl

ENSG00000205981

Chromosome

3

Canonical length

116 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

116 residues, UniProt reviewed canonical sequence.

>Q96DA6|DNAJC19
     1  MASTVVAVGL TIAAAGFAGR YVLQAMKHME PQVKQVFQSL PKSAFSGGYY RGGFEPKMTK
    61  REAALILGVS PTANKGKIRD AHRRIMLLNH PDKGGSPYIA AKINEAKDLL EGQAKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAJC19 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

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

72 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAJC19.

Disease | AllUniProt

Conditions DNAJC19 is implicated in, by any mechanism.

• 3-methylglutaconic aciduria 5 (MGCA5) MIM:610198

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 173 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 3-methylglutaconic aciduria type 5
• DNAJC19-related disorder
• 3-Methylglutaconic aciduria type 3
• Malignant tumor of esophagus
• Gastric cancer

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)

1.31

gnomAD pLI

0

gnomAD missense Z

0.88

DepMap mean gene effect

-0.18

DepMap dependency class

selective

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

• genitalia development
• intracellular protein transport
• protein folding
• protein import into mitochondrial matrix
• protein targeting to mitochondrion
• regulation of cardiolipin metabolic process
• visual perception

Molecular functions

• ATPase activator activity

Cellular components

• inner mitochondrial membrane protein complex
• matrix side of mitochondrial inner membrane
• membrane
• mitochondrial inner membrane
• mitochondrion
• PAM complex, Tim23 associated import motor
• protein-containing complex
• TIM23 mitochondrial import inner membrane translocase complex

Protein domainsUniProt · Pfam · InterPro

• DnaJ domain
• Chaperone J-domain superfamily
• DnaJ domain

KeywordsUniProt

• Acetylation
• Cardiomyopathy
• Chaperone
• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Phosphoprotein
• Protein transport
• Translocation
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of DNAJC19 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PHB2
• AFG3L2
• PAM16