NDUFS7
entrez
374291
canonical
uniprot
O75251
canonical
ensembl
ENSG00000115286
resolver
ensp
ENSP00000233627
resolver
ensp
ENSP00000443273
resolver
enst
ENST00000539480
resolver
genesymbol
NDUFS7
resolver
hgnc
HGNC:7714
resolver
uniprot
B3KRI2
resolver
uniprot
C9J844
resolver
uniprot
F5H5N1
resolver
uniprot
Q2T9H7
resolver
uniprot
Q6ZS38
resolver
uniprot
Q7LD69
resolver
uniprot
Q9BV17
resolver
uniprot_entry
F5H5N1_HUMAN
resolver
uniprot_entry
NDUS7_HUMAN
resolver
uniprot_entry
Q6ZS38_HUMAN
resolver
uniprot_entry
Q7LD69_HUMAN
resolver
uniprot_sec
B3KRI2
resolver
uniprot_sec
C9J844
resolver
uniprot_sec
Q2T9H7
resolver
uniprot_sec
Q9BV17
resolver
amino_acid_sequence
MAVLSAPGLRGFRILGLRSSVGPAVQARGVHQSVATDGPSSTQPALPKARAVAPKPSSRGEYVVAKLDDLVNWARRSSLWPMTFGLACCAVEMMHMAAPRYDMDRFGVVFRASPRQSDVMIVAGTLTNKMAPALRKVYDQMPEPRYVVSMGSCANGGGYYHYSYSVVRGCDRIVPVDIYIPGCPPTAEALLYGILQLQRKIKRERRLQIWYRR
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) [MIM:618224]: 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. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:10330338, ECO:0000269|PubMed:10360771}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:17275378). Essential for the catalytic activity of complex I (PubMed:17275378). {ECO:0000269|PubMed:17275378}.
uniprot
proteins
mass_dalton
23564
uniprot
proteins
post_translational_modification
PTM: Hydroxylated at Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms. {ECO:0000269|PubMed:27226634}.
uniprot
proteins
protein_family
Complex I 20 kDa subunit family
uniprot
proteins
pubmed
10330338
uniprot
proteins
pubmed
10360771
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17275378
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27226634
uniprot
proteins
pubmed
8938450
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Peripheral membrane protein {ECO:0000250|UniProtKB:P42026}; Matrix side {ECO:0000250|UniProtKB:P42026}.
uniprot
proteins