NDUFAF5
entrez
79133
canonical
uniprot
Q5TEU4
canonical
ensembl
ENSG00000101247
resolver
ensp
ENSP00000367346
resolver
ensp
ENSP00000420497
resolver
ensp
ENSP00000656357
resolver
ensp
ENSP00000656358
resolver
ensp
ENSP00000766259
resolver
genesymbol
NDUFAF5
resolver
genesymbol_syn
C20orf7
resolver
hgnc
HGNC:15899
resolver
uniprot
A8K166
resolver
uniprot
Q6GPH3
resolver
uniprot
Q9H6F4
resolver
uniprot_entry
NDUF5_HUMAN
resolver
uniprot_sec
A8K166
resolver
uniprot_sec
Q6GPH3
resolver
uniprot_sec
Q9H6F4
resolver
amino_acid_sequence
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]: 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. MC1DN16 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:19542079, ECO:0000269|PubMed:21607760}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.-.-.-
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). May also have methyltransferase activity (Probable). {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:27226634, ECO:0000305}.
uniprot
proteins
mass_dalton
38918
uniprot
proteins
protein_family
Methyltransferase superfamily
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18940309
uniprot
proteins
pubmed
19542079
uniprot
proteins
pubmed
21607760
uniprot
proteins
pubmed
27226634
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
35614220
uniprot
proteins
sequence_length
345
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:27226634, ECO:0000269|PubMed:35614220}. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane. {ECO:0000269|PubMed:18940309}.
uniprot
proteins