NDUFB10
entrez
4716
canonical
uniprot
O96000
canonical
ensembl
ENSG00000140990
resolver
ensembl
ENSG00000291930
resolver
ensp
ENSP00000268668
resolver
genesymbol
NDUFB10
resolver
hgnc
HGNC:7696
resolver
uniprot
A8K761
resolver
uniprot
Q96II6
resolver
uniprot_entry
A8K761_HUMAN
resolver
uniprot_entry
NDUBA_HUMAN
resolver
uniprot_sec
Q96II6
resolver
amino_acid_sequence
MPDSWDKDVYPEPPRRTPVQPNPIVYMMKAFDLIVDRPVTLVREFIERQHAKNRYYYYHRQYRRVPDITECKEEDIMCMYEAEMQWKRDYKVDQEIINIMQDRLKACQQREGQNYQQNCIKEVEQFTQVAKAYQDRYQDLGAYSSARKCLAKQRQRMLQERKAAKEAAAATS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 35 (MC1DN35) [MIM:619003]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN35 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:28040730}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I. Complex I has an NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor and mediates the transfer of electrons from NADH to the respiratory chain. {ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:28040730}.
uniprot
proteins
mass_dalton
20777
uniprot
proteins
post_translational_modification
PTM: The formation of intramolecular disulfide bonds is assisted by CHCHD4 and ensures folding, import into the mitochondrion and is required for the function in mitochondrial respiratory chain complex I assembly. {ECO:0000269|PubMed:28040730}.
uniprot
proteins
protein_family
Complex I NDUFB10 subunit family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
28040730
uniprot
proteins
pubmed
9878551
uniprot
proteins
sequence_length
172
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:28040730, ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins