GO_REF:0000024

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservation of the subcellular location

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

PMID:30318146

The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development.

DNAJC30 is an inner-membrane mitochondrial protein that interacts directly with ATP synthase subunits (MT-ATP6, ATP5MC2) and is an auxiliary component of the ATP-synthase machinery; its loss causes mitochondrial hypofunction and Williams-syndrome-like neurodevelopmental phenotypes.

PMID:32296183

A reference map of the human binary protein interactome.

PMID:33465056

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.

Biallelic DNAJC30 mutations cause autosomal-recessive Leber hereditary optic neuropathy; DNAJC30 is a chaperone needed for efficient exchange of complex I N-module subunits exposed to reactive oxygen species, integral to a mitochondrial complex I repair mechanism.

PMID:34800366

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

file:human/DNAJC30/DNAJC30-uniprot.txt

UniProt entry Q96LL9 (DJC30_HUMAN), DnaJ homolog subfamily C member 30, mitochondrial

Mitochondrial inner-membrane J-domain protein; associates with the ATP synthase complex and facilitates ATP synthesis; chaperone involved in turnover of complex I N-module subunits damaged by oxidative stress; causes autosomal-recessive LHON.