DNAJC30
entrez
84277
canonical
uniprot
Q96LL9
canonical
ensembl
ENSG00000176410
resolver
ensp
ENSP00000378605
resolver
enst
ENST00000395176
resolver
genesymbol
DNAJC30
resolver
genesymbol_syn
WBSCR18
resolver
hgnc
HGNC:16410
resolver
uniprot
B3KSU4
resolver
uniprot
Q9BSG8
resolver
uniprot_entry
B3KSU4_HUMAN
resolver
uniprot_entry
DJC30_HUMAN
resolver
uniprot_sec
Q9BSG8
resolver
amino_acid_sequence
MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVVLGSATLRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTAAIFLIFSIFIIIGFYI
uniprot
proteins
disease_involvement
DISEASE: Note=DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region (PubMed:12073013, PubMed:30318146). WBS results from a hemizygous deletion of several genes on chromosome 7q11.23 thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:30318146). WBS is an autosomal dominant disorder characterized by multiple clinical manifestations including neurologic features such as intellectual disability, cardiovascular, urogenital and skeletal features, and distinctive facies (PubMed:30318146). Deletion of DNAJC30 is responsible for mitochondrial dysfunction underlyining certain neurodevelopmental abnormalities observed in WBS (PubMed:30318146). {ECO:0000269|PubMed:12073013, ECO:0000269|PubMed:30318146}.; DISEASE: Leber-like hereditary optic neuropathy, autosomal recessive 1 (LHONAR1) [MIM:619382]: An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. {ECO:0000269|PubMed:33465056}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the turnover of the subunits of mitochondrial complex I N-module. It facilitates the degradation of N-module subunits damaged by oxidative stress, and contributes to complex I functional efficiency (PubMed:33465056). {ECO:0000250|UniProtKB:P59041, ECO:0000269|PubMed:33465056}.
uniprot
proteins
mass_dalton
25961
uniprot
proteins
pubmed
12073013
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30318146
uniprot
proteins
pubmed
33465056
uniprot
proteins
sequence_length
226
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30318146}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 208..225; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins