NDUFS4
entrez
4724
canonical
uniprot
O43181
canonical
ensembl
ENSG00000164258
resolver
ensp
ENSP00000296684
resolver
ensp
ENSP00000424570
resolver
enst
ENST00000296684
resolver
genesymbol
NDUFS4
resolver
hgnc
HGNC:7711
resolver
uniprot
A0A0S2Z433
resolver
uniprot
Q9BS69
resolver
uniprot_entry
A0A0S2Z433_HUMAN
resolver
uniprot_entry
NDUS4_HUMAN
resolver
uniprot_sec
Q9BS69
resolver
amino_acid_sequence
MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLDITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADPLSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010]: 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. {ECO:0000269|PubMed:10944442, ECO:0000269|PubMed:11181577, ECO:0000269|PubMed:12616398, ECO:0000269|PubMed:15975579, ECO:0000269|PubMed:19107570, ECO:0000269|PubMed:19364667, ECO:0000269|PubMed:9463323}. 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:11181577, ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:9463323}.
uniprot
proteins
mass_dalton
20108
uniprot
proteins
mutagenesis
MUTAGEN 173; /note="S->A: Loss of phosphorylation."; /evidence="ECO:0000269|PubMed:20433953
uniprot
proteins
protein_family
Complex I NDUFS4 subunit family
uniprot
proteins
pubmed
10944442
uniprot
proteins
pubmed
11181577
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12616398
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15975579
uniprot
proteins
pubmed
19107570
uniprot
proteins
pubmed
19364667
uniprot
proteins
pubmed
20433953
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
31206022
uniprot
proteins
pubmed
9463323
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11181577, ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:31206022}; Peripheral membrane protein {ECO:0000269|PubMed:12611891}; Matrix side {ECO:0000269|PubMed:12611891}. Note=The interaction with BCAP31 mediates mitochondria localization. {ECO:0000269|PubMed:31206022}.
uniprot
proteins