NDUFA10
entrez
4705
canonical
uniprot
O95299
canonical
ensembl
ENSG00000130414
resolver
ensp
ENSP00000252711
resolver
ensp
ENSP00000403080
resolver
ensp
ENSP00000408224
resolver
ensp
ENSP00000503837
resolver
ensp
ENSP00000504547
resolver
ensp
ENSP00000732615
resolver
enst
ENST00000444548
resolver
enst
ENST00000448880
resolver
enst
ENST00000677764
resolver
enst
ENST00000679158
resolver
genesymbol
NDUFA10
resolver
hgnc
HGNC:7684
resolver
uniprot
A0A7I2V438
resolver
uniprot
A0A7I2V5L0
resolver
uniprot
H7C1Y7
resolver
uniprot
H7C2X4
resolver
uniprot
Q8WXC9
resolver
uniprot_entry
A0A7I2V438_HUMAN
resolver
uniprot_entry
A0A7I2V5L0_HUMAN
resolver
uniprot_entry
H7C1Y7_HUMAN
resolver
uniprot_entry
H7C2X4_HUMAN
resolver
uniprot_entry
NDUAA_HUMAN
resolver
uniprot_sec
Q8WXC9
resolver
amino_acid_sequence
MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCKLRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243]: 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. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:21150889, ECO:0000269|PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.
uniprot
proteins
mass_dalton
40751
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-250 by PINK1 is required for the binding and/or reduction of the complex I substrate ubiquinone. {ECO:0000250|UniProtKB:Q99LC3}.
uniprot
proteins
protein_family
Complex I NDUFA10 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21150889
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
9878551
uniprot
proteins
sequence_length
355
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:12611891}.
uniprot
proteins