NDUFA9
entrez
4704
canonical
uniprot
Q16795
canonical
ensembl
ENSG00000139180
resolver
ensp
ENSP00000266544
resolver
enst
ENST00000266544
resolver
genesymbol
NDUFA9
resolver
genesymbol_syn
NDUFS2L
resolver
hgnc
HGNC:7693
resolver
uniprot
Q14076
resolver
uniprot
Q2NKX0
resolver
uniprot_entry
NDUA9_HUMAN
resolver
uniprot_sec
Q14076
resolver
uniprot_sec
Q2NKX0
resolver
amino_acid_sequence
MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFGATGFLGRYVVNHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVVQHSNVVINLIGRDWETKNFDFEDVFVKIPQAIAQLSKEAGVEKFIHVSHLNANIKSSSRYLRNKAVGEKVVRDAFPEAIIVKPSDIFGREDRFLNSFASMHRFGPIPLGSLGWKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYIFAVAHRLFLPFPLPLFAYRWVARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAIEVLRRHRTYRWLSAEIEDVKPAKTVNI
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]: 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. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:22114105, ECO:0000269|PubMed:28671271}. 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. Required for proper complex I assembly (PubMed:28671271). 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:22114105, ECO:0000269|PubMed:27626371, ECO:0000269|PubMed:28671271}.
uniprot
proteins
mass_dalton
42510
uniprot
proteins
post_translational_modification
PTM: Acetylated on lysine residues. BLOC1S1 is required for acetylation (PubMed:22309213). Acetylated by CLOCK in a circadian manner (PubMed:28985504). {ECO:0000269|PubMed:22309213, ECO:0000269|PubMed:28985504}.
uniprot
proteins
protein_family
Complex I NDUFA9 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22114105
uniprot
proteins
pubmed
22309213
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27626371
uniprot
proteins
pubmed
28671271
uniprot
proteins
pubmed
28985504
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
8012384
uniprot
proteins
pubmed
8486360
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:12611891}.
uniprot
proteins