NDUFAF4
entrez
29078
canonical
uniprot
Q9P032
canonical
ensembl
ENSG00000123545
resolver
ensp
ENSP00000358272
resolver
enst
ENST00000316149
resolver
genesymbol
NDUFAF4
resolver
genesymbol_syn
C6orf66
resolver
genesymbol_syn
HRPAP20
resolver
hgnc
HGNC:21034
resolver
uniprot
B2R4J5
resolver
uniprot_entry
NDUF4_HUMAN
resolver
uniprot_sec
B2R4J5
resolver
amino_acid_sequence
MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEKLLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) [MIM:618237]: 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. MC1DN15 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:18179882, ECO:0000269|PubMed:28853723}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion. {ECO:0000269|PubMed:14871833, ECO:0000269|PubMed:17001319, ECO:0000269|PubMed:18179882, ECO:0000269|PubMed:28853723}.
uniprot
proteins
mass_dalton
20266
uniprot
proteins
mutagenesis
MUTAGEN 73; /note="K->A: Reduces interaction with calmodulin. Does not promote MMP-9 secretion."; /evidence="ECO:0000269|PubMed:17001319
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine. Prolactin stimulate serine phosphorylation (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
NDUFAF4 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14871833
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17001319
uniprot
proteins
pubmed
18179882
uniprot
proteins
pubmed
19463981
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28853723
uniprot
proteins
pubmed
33635491
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:18179882}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
uniprot
proteins