NDUFAF7
entrez
55471
canonical
uniprot
Q7L592
canonical
ensembl
ENSG00000003509
resolver
ensp
ENSP00000002125
resolver
ensp
ENSP00000337431
resolver
ensp
ENSP00000555451
resolver
ensp
ENSP00000555453
resolver
genesymbol
NDUFAF7
resolver
genesymbol_syn
C2orf56
resolver
hgnc
HGNC:28816
resolver
uniprot
B4DQY3
resolver
uniprot
Q7Z399
resolver
uniprot
Q9P1G3
resolver
uniprot_entry
B4DQY3_HUMAN
resolver
uniprot_entry
NDUF7_HUMAN
resolver
uniprot_sec
Q7Z399
resolver
uniprot_sec
Q9P1G3
resolver
amino_acid_sequence
MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPMLRHLMYKIKSTGPITVAEYMKEVLTNPAKGYYVYRDMLGEKGDFITSPEISQIFGELLGIWFISEWMATGKSTAFQLVELGPGRGTLVGDILRVFTQLGSVLKNCDISVHLVEVSQKLSEIQALTLTKEKVPLERNAGSPVYMKGVTKSGIPISWYRDLHDVPKGYSFYLAHEFFDVLPVHKFQKTPQGWREVFVDIDPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCPDAGVIIEELSQRIALTGGAALVADYGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTADVDFSYLRRMAQGKVASLGPIKQHTFLKNMGIDVRLKVLLDKSNEPSVRQQLLQGYDMLMNPKKMGERFNFFALLPHQRLQGGRYQRNARQSKPFASVVAGFSELAWQ
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye. {ECO:0000269|PubMed:28837730}.
uniprot
proteins
ec_number
2.1.1.320
uniprot
proteins
function
FUNCTION: Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531). {ECO:0000269|PubMed:20406883, ECO:0000269|PubMed:24089531, ECO:0000269|PubMed:24838397}.
uniprot
proteins
mass_dalton
49238
uniprot
proteins
mutagenesis
MUTAGEN 124; /note="G->V: Loss of function."; /evidence="ECO:0000269|PubMed:24838397
uniprot
proteins
protein_family
NDUFAF7 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20406883
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24089531
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24838397
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28837730
uniprot
proteins
sequence_length
441
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20406883, ECO:0000269|PubMed:24089531, ECO:0000269|PubMed:24838397, ECO:0000269|PubMed:28837730}.
uniprot
proteins