NDUFS1
entrez
4719
canonical
uniprot
P28331
canonical
ensembl
ENSG00000023228
resolver
ensembl
ENSG00000283447
resolver
ensp
ENSP00000233190
resolver
ensp
ENSP00000397760
resolver
ensp
ENSP00000409689
resolver
ensp
ENSP00000409766
resolver
genesymbol
NDUFS1
resolver
hgnc
HGNC:7707
resolver
uniprot
B4DIN9
resolver
uniprot
B4DJA0
resolver
uniprot
B4DPG1
resolver
uniprot
B4DUC1
resolver
uniprot
E5KRK5
resolver
uniprot
E7ENF3
resolver
uniprot
Q53TR8
resolver
uniprot
Q8N1C4
resolver
uniprot
Q8TCC9
resolver
uniprot_entry
E5KRK5_HUMAN
resolver
uniprot_entry
NDUS1_HUMAN
resolver
uniprot_sec
B4DIN9
resolver
uniprot_sec
B4DJA0
resolver
uniprot_sec
B4DPG1
resolver
uniprot_sec
B4DUC1
resolver
uniprot_sec
E7ENF3
resolver
uniprot_sec
Q53TR8
resolver
uniprot_sec
Q8N1C4
resolver
uniprot_sec
Q8TCC9
resolver
amino_acid_sequence
MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVEPGTTVLQACEKVGMQIPRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNILTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAVEDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSELSGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPRMHEDINEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQGKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIAGVEEADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPKILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTGDWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFIIYQGHHGDVGAPIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIRALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLADPLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQAVEEPSIC
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226]: 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. MC1DN5 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:11349233, ECO:0000269|PubMed:31557978}. 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:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). {ECO:0000269|PubMed:30879903, ECO:0000269|PubMed:31557978}.
uniprot
proteins
mass_dalton
79468
uniprot
proteins
protein_family
Complex I 75 kDa subunit family
uniprot
proteins
pubmed
11349233
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
1935949
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22499341
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30879903
uniprot
proteins
pubmed
31557978
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891, ECO:0000305|PubMed:30879903}; Peripheral membrane protein {ECO:0000250|UniProtKB:P15690}; Matrix side {ECO:0000250|UniProtKB:P15690}.
uniprot
proteins