ND5
entrez
4540
canonical
uniprot
P03915
canonical
ensembl
ENSG00000198786
resolver
ensp
ENSP00000354813
resolver
enst
ENST00000361567
resolver
genesymbol
MT-ND5
resolver
genesymbol
ND5
resolver
genesymbol_syn
MTND5
resolver
genesymbol_syn
NADH5
resolver
genesymbol_syn
ND5
resolver
hgnc
HGNC:7461
resolver
uniprot
Q34773
resolver
uniprot
Q8WCY3
resolver
uniprot
U5ZC31
resolver
uniprot_entry
NU5M_HUMAN
resolver
uniprot_entry
U5ZC31_HUMAN
resolver
uniprot_sec
Q34773
resolver
uniprot_sec
Q8WCY3
resolver
amino_acid_sequence
MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLDQEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQFFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILYNRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPWLPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAVCALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIHNLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNAWALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFAGFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYFSNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQKGMIKLYFLSFFFPLILTLLLIT
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:16240359, ECO:0000269|PubMed:1732158, ECO:0000269|PubMed:1900003, ECO:0000269|PubMed:8213825}. Note=The disease is caused by variants affecting the gene represented in this entry.; 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:11938446, ECO:0000269|PubMed:12796552, ECO:0000269|PubMed:17400793}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269|PubMed:12509858, ECO:0000269|PubMed:15767514, ECO:0000269|PubMed:17400793, ECO:0000269|PubMed:9299505}. 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:15250827). Essential for the catalytic activity and assembly of complex I (PubMed:15250827). {ECO:0000269|PubMed:15250827}.
uniprot
proteins
mass_dalton
67027
uniprot
proteins
protein_family
Complex I subunit 5 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
11553319
uniprot
proteins
pubmed
11938446
uniprot
proteins
pubmed
12509858
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12796552
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
15250827
uniprot
proteins
pubmed
15767514
uniprot
proteins
pubmed
16240359
uniprot
proteins
pubmed
1732158
uniprot
proteins
pubmed
17400793
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
1900003
uniprot
proteins
pubmed
20818383
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
6284948
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
8213825
uniprot
proteins
pubmed
9299505
uniprot
proteins
pubmed
9461455
uniprot
proteins
sequence_length
603
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03920}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 38..58; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 87..107; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 144..160; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 171..191; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 211..233; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 241..261; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 272..292; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 301..320; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 325..347; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 370..390; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 407..429; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 458..478; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 482..502; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 582..602; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins