NDUFA11
entrez
126328
canonical
uniprot
Q86Y39
canonical
ensembl
ENSG00000174886
resolver
ensembl
ENSG00000292058
resolver
ensp
ENSP00000311740
resolver
ensp
ENSP00000389160
resolver
genesymbol
NDUFA11
resolver
hgnc
HGNC:20371
resolver
uniprot
C9JT23
resolver
uniprot
Q6ZS66
resolver
uniprot_entry
NDUAB_HUMAN
resolver
uniprot_sec
C9JT23
resolver
uniprot_sec
Q6ZS66
resolver
amino_acid_sequence
MAPKVFRQYWDIPDGTDCHRKAYSTTSIASVAGLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 14 (MC1DN14) [MIM:618236]: 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. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18306244}. 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
14852
uniprot
proteins
protein_family
Complex I NDUFA11 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18306244
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
sequence_length
141
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891}; Multi-pass membrane protein {ECO:0000255}; Matrix side {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 58..80; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins