NDUFA1
entrez
4694
canonical
uniprot
O15239
canonical
ensembl
ENSG00000125356
resolver
ensp
ENSP00000360492
resolver
enst
ENST00000371437
resolver
genesymbol
NDUFA1
resolver
genesymbol
ZNF183
resolver
genesymbol_syn
NDUFA1
resolver
hgnc
HGNC:7683
resolver
uniprot
Q6IBB5
resolver
uniprot_entry
NDUA1_HUMAN
resolver
uniprot_entry
Q6IBB5_HUMAN
resolver
amino_acid_sequence
MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRYYVSKGLENID
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020]: 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:17262856}. 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
8072
uniprot
proteins
protein_family
Complex I NDUFA1 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17262856
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
8938439
uniprot
proteins
pubmed
9224902
uniprot
proteins
sequence_length
70
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Single-pass membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins