ND1
entrez
4535
canonical
uniprot
P03886
canonical
ensembl
ENSG00000198888
resolver
ensp
ENSP00000354687
resolver
enst
ENST00000361390
resolver
genesymbol
MT-ND1
resolver
genesymbol
ND1
resolver
genesymbol_syn
MTND1
resolver
genesymbol_syn
NADH1
resolver
genesymbol_syn
ND1
resolver
hgnc
HGNC:7455
resolver
uniprot
C0JKH6
resolver
uniprot
Q37523
resolver
uniprot
U5Z754
resolver
uniprot_entry
NU1M_HUMAN
resolver
uniprot_entry
U5Z754_HUMAN
resolver
uniprot_sec
C0JKH6
resolver
uniprot_sec
Q37523
resolver
amino_acid_sequence
MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEPLKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSGWASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNIIMMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLALLMWYVSMPITISSIPPQT
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:1417830, ECO:0000269|PubMed:1674640, ECO:0000269|PubMed:1900003, ECO:0000269|PubMed:1928099, ECO:0000269|PubMed:1959619, ECO:0000269|PubMed:2018041}. 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:8723687}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269|PubMed:8104867}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:15265369, ECO:0000269|PubMed:7733935}. Note=The gene represented in this entry may be involved in disease pathogenesis.
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:1959619). Essential for the catalytic activity and assembly of complex I (PubMed:1959619, PubMed:26929434). {ECO:0000269|PubMed:1959619, ECO:0000269|PubMed:26929434}.
uniprot
proteins
mass_dalton
35661
uniprot
proteins
protein_family
Complex I subunit 1 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
1417830
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
15265369
uniprot
proteins
pubmed
1674640
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
1900003
uniprot
proteins
pubmed
19243582
uniprot
proteins
pubmed
1928099
uniprot
proteins
pubmed
1959619
uniprot
proteins
pubmed
2018041
uniprot
proteins
pubmed
21144833
uniprot
proteins
pubmed
24105702
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26929434
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
6260957
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
7733935
uniprot
proteins
pubmed
8104867
uniprot
proteins
pubmed
8723687
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03887}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..22; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 68..88; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 146..166; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 171..191; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 231..251; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 253..273; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 294..314; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins