ND3
entrez
4537
canonical
uniprot
P03897
canonical
ensembl
ENSG00000198840
resolver
ensp
ENSP00000355206
resolver
enst
ENST00000361227
resolver
genesymbol
MT-ND3
resolver
genesymbol
ND3
resolver
genesymbol_syn
MTND3
resolver
genesymbol_syn
NADH3
resolver
genesymbol_syn
ND3
resolver
hgnc
HGNC:7458
resolver
uniprot
Q7GXZ5
resolver
uniprot_entry
NU3M_HUMAN
resolver
uniprot_entry
Q7GXZ5_HUMAN
resolver
amino_acid_sequence
MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLVAITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE
uniprot
proteins
disease_involvement
DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:17152068, ECO:0000269|PubMed:25118196}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014]: 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. {ECO:0000269|PubMed:11456298, ECO:0000269|PubMed:14705112, ECO:0000269|PubMed:20818383}. 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:25118196). Essential for the catalytic activity of complex I (PubMed:25118196). {ECO:0000269|PubMed:25118196}.
uniprot
proteins
mass_dalton
13186
uniprot
proteins
protein_family
Complex I subunit 3 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
11456298
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
14705112
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
17152068
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
20818383
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25118196
uniprot
proteins
pubmed
32320651
uniprot
proteins
pubmed
33753518
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
6343397
uniprot
proteins
pubmed
7219534
uniprot
proteins
sequence_length
115
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03898}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 3..23; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 55..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 84..104; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins