NDUFV1
entrez
4723
canonical
uniprot
P49821
canonical
ensembl
ENSG00000167792
resolver
ensp
ENSP00000322450
resolver
ensp
ENSP00000436766
resolver
genesymbol
NDUFV1
resolver
genesymbol_syn
UQOR1
resolver
hgnc
HGNC:7716
resolver
uniprot
E5KNH5
resolver
uniprot
O60924
resolver
uniprot
O60940
resolver
uniprot
Q16104
resolver
uniprot
Q6IBR3
resolver
uniprot
Q96BF8
resolver
uniprot
Q96HS7
resolver
uniprot_entry
E5KNH5_HUMAN
resolver
uniprot_entry
NDUV1_HUMAN
resolver
uniprot_sec
O60924
resolver
uniprot_sec
O60940
resolver
uniprot_sec
Q16104
resolver
uniprot_sec
Q6IBR3
resolver
uniprot_sec
Q96BF8
resolver
uniprot_sec
Q96HS7
resolver
amino_acid_sequence
MLATRRLLGWSLPARVSVRFSGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]: 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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:10080174, ECO:0000269|PubMed:11349233}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (PubMed:28844695). Contains FMN, which is the initial electron acceptor as well as one iron-sulfur cluster (PubMed:28844695). {ECO:0000269|PubMed:28844695}.
uniprot
proteins
mass_dalton
50817
uniprot
proteins
protein_family
Complex I 51 kDa subunit family
uniprot
proteins
pubmed
10080174
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11349233
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
1478657
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
8288251
uniprot
proteins
pubmed
9571201
uniprot
proteins
pubmed
9892733
uniprot
proteins
sequence_length
464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P25708}; Peripheral membrane protein {ECO:0000250|UniProtKB:P25708}; Matrix side {ECO:0000250|UniProtKB:P25708}.
uniprot
proteins