Seroatlas · Human Serome Atlas

DNAJC30

DnaJ homolog subfamily C member 30, mitochondrial

Also known as: DJC30_HUMAN, WBSCR18

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96LL9
Gene: DNAJC30
Ensembl: ENSG00000176410
Chromosome: 7
Canonical length: 226 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI Gene

This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

226 residues, UniProt reviewed canonical sequence.

>Q96LL9|DNAJC30
     1  MAAMRWRWWQ RLLPWRLLQA RGFPQNSAPS LGLGARTYSQ GDCSYSRTAL YDLLGVPSTA
    61  TQAQIKAAYY RQCFLYHPDR NSGSAEAAER FTRISQAYVV LGSATLRRKY DRGLLSDEDL
   121  RGPGVRPSRT PAPDPGSPRT PPPTSRTHDG SRASPGANRT MFNFDAFYQA HYGEQLERER
   181  RLRARREALR KRQEYRSMKG LRWEDTRDTA AIFLIFSIFI IIGFYI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAJC30 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): 0.54
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

adrenal gland: 14 nTPM
testis: 12 nTPM
cerebral cortex: 11 nTPM
liver: 11 nTPM
heart muscle: 11 nTPM
basal ganglia: 10 nTPM

Single-cell type

late spermatids: 361 nCPM
late primary spermatocytes: 133 nCPM
early spermatids: 124 nCPM
cytotrophoblasts: 52 nCPM
decidual stromal cells: 46 nCPM
syncytiotrophoblasts: 38 nCPM

Immune cell

naive B-cell: 11 nTPM
naive CD4 T-cell: 10 nTPM
naive CD8 T-cell: 8.7 nTPM
memory B-cell: 8.6 nTPM
memory CD8 T-cell: 8.5 nTPM
MAIT T-cell: 8.4 nTPM

Brain region

cerebral cortex: 21 nTPM
basal ganglia: 20 nTPM
hippocampal formation: 20 nTPM
hypothalamus: 19 nTPM
pons: 19 nTPM
midbrain: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAJC30.

Disease | AllUniProt

Conditions DNAJC30 is implicated in, by any mechanism.

Leber-like hereditary optic neuropathy, autosomal recessive 1 (LHONAR1) MIM:619382

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 55 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Leber-like hereditary optic neuropathy, autosomal recessive 1
Optic atrophy
Leber hereditary optic neuropathy, autosomal recessive
Leber optic atrophy, susceptibility to
DNAJC30-associated 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): 1.42
gnomAD pLI: 0.02
gnomAD missense Z: -1.08
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

DnaJ domain
Chaperone J-domain superfamily
DnaJ domain
Mitochondrial ATP Synthase-Associated

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DNAJC30 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 DNAJC30 as an antibody target. Whether an autoantibody or antibody against DNAJC30 could matter depends on whether native DNAJC30 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAJC30 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DNAJC30 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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