ND4
entrez
4538
canonical
uniprot
P03905
canonical
ensembl
ENSG00000198886
resolver
ensp
ENSP00000354961
resolver
enst
ENST00000361381
resolver
genesymbol
MT-ND4
resolver
genesymbol
ND4
resolver
genesymbol_syn
MTND4
resolver
genesymbol_syn
NADH4
resolver
genesymbol_syn
ND4
resolver
hgnc
HGNC:7459
resolver
uniprot
A0A1X7RBN5
resolver
uniprot
H9EC08
resolver
uniprot
Q6RL39
resolver
uniprot
Q6RQN9
resolver
uniprot
Q8HNR8
resolver
uniprot_entry
H9EC08_HUMAN
resolver
uniprot_entry
NU4M_HUMAN
resolver
uniprot_sec
A0A1X7RBN5
resolver
uniprot_sec
Q6RL39
resolver
uniprot_sec
Q6RQN9
resolver
uniprot_sec
Q8HNR8
resolver
amino_acid_sequence
MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSSDPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELIMFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSLNILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLAAVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSSISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGLQTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALYSLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS
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:1959619, ECO:0000269|PubMed:1959931, ECO:0000269|PubMed:3201231, ECO:0000269|PubMed:9452107}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: A 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. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia. {ECO:0000269|PubMed:8644732}. 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:1323207}. 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, PubMed:8344246, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:15250827, PubMed:8344246, PubMed:8644732). {ECO:0000269|PubMed:15250827, ECO:0000269|PubMed:8344246, ECO:0000269|PubMed:8644732}.
uniprot
proteins
mass_dalton
51581
uniprot
proteins
protein_family
Complex I subunit 4 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
12022039
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
1323207
uniprot
proteins
pubmed
1377597
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
15250827
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
1959619
uniprot
proteins
pubmed
1959931
uniprot
proteins
pubmed
20818383
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
3201231
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
6284948
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
8344246
uniprot
proteins
pubmed
8644732
uniprot
proteins
pubmed
9452107
uniprot
proteins
sequence_length
459
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03910}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 60..80; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 102..122; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 196..216; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 224..244; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 257..277; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 284..303; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 308..330; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 351..371; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 391..411; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins