NDUFS3
entrez
4722
canonical
uniprot
O75489
canonical
ensembl
ENSG00000213619
resolver
ensp
ENSP00000263774
resolver
genesymbol
NDUFS3
resolver
hgnc
HGNC:7710
resolver
uniprot
B2R9J1
resolver
uniprot
B4DFM8
resolver
uniprot
Q9UNQ8
resolver
uniprot_entry
NDUS3_HUMAN
resolver
uniprot_sec
B2R9J1
resolver
uniprot_sec
B4DFM8
resolver
uniprot_sec
Q9UNQ8
resolver
amino_acid_sequence
MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRRESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFANHPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWEAFPVYRQPPESLKLEAGDKKPDAK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230]: 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:14729820, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:24028823, ECO:0000269|PubMed:30140060}. 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:14729820, PubMed:30140060). Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060). {ECO:0000269|PubMed:14729820, ECO:0000269|PubMed:24028823, ECO:0000269|PubMed:30140060}.
uniprot
proteins
mass_dalton
30242
uniprot
proteins
protein_family
Complex I 30 kDa subunit family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
10967146
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14729820
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17209039
uniprot
proteins
pubmed
18826940
uniprot
proteins
pubmed
19463981
uniprot
proteins
pubmed
19892738
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22499348
uniprot
proteins
pubmed
24028823
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30140060
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
9647766
uniprot
proteins
sequence_length
264
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18826940, ECO:0000305|PubMed:12611891, ECO:0000305|PubMed:17209039}; Peripheral membrane protein {ECO:0000305|PubMed:18826940}; Matrix side {ECO:0000269|PubMed:18826940}.
uniprot
proteins