NADH-ubiquinone oxidoreductase chain 1

UniProt P03886 Organism Homo sapiens Gene MT-ND1, MTND1, NADH1, ND1 EC 7.1.1.2

Also known as: MT-ND1, MTND1, NADH1, ND1

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. Essential for the catalytic activity and assembly of complex I.

Classification

Family (Pfam): PF00146 NADHdh
InterPro: NADH_UbQ_OxRdtase_su1/FPO, NADH_UbQ_OxRdtase_su1_CS
Functional cluster: Cytochrome b & NADH Dehydrogenase Subunits

Experimental structures · PDB · 5

5XTC EM 3.70A
5XTD EM 3.70A
9CWT EM 3.44A
9I4I EM 2.63A
9TI4 EM 2.66A

A predicted model is available from AlphaFold.

Gene Ontology · 14

Disease associations

type 2 diabetes mellitus MONDO:0005148
Alzheimer disease, susceptibility to, mitochondrial MONDO:0100295
Leber hereditary optic neuropathy MONDO:0010788
MELAS syndrome MONDO:0010789

Drugs targeting this protein · 2

METFORMIN HYDROCHLORIDE inhibitor
ME-344 inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

NADH-ubiquinone oxidoreductase chain 6 7 shared papers
NADH-ubiquinone oxidoreductase chain 2 9 shared papers
NADH-ubiquinone oxidoreductase chain 4 8 shared papers
NADH-ubiquinone oxidoreductase chain 5 8 shared papers
Cytochrome c oxidase subunit 1 7 shared papers
NADH-ubiquinone oxidoreductase chain 4L 7 shared papers
NADH-ubiquinone oxidoreductase chain 3 7 shared papers
ATP synthase F(0) complex subunit 8 6 shared papers
ATP synthase F(0) complex subunit a 6 shared papers
Cytochrome c oxidase subunit 2 6 shared papers
Cytochrome b 3 shared papers
Cytochrome c oxidase subunit 3 2 shared papers

Literature · 25 cited papers

Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly. FASEB J. · 2016
N-terminome analysis of the human mitochondrial proteome. Proteomics · 2015
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum. Mutat. · 2013
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss. Biochem. Biophys. Res. Commun. · 2011
Mitochondrial DNA haplogroup H structure in North Africa. BMC Genet. · 2009
Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes. Chin. Med. J. · 2004
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int. J. Legal Med. · 2004
Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol. Biol. Evol. · 2003
Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. · 2003
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J. Biol. Chem. · 2003
Mitochondrial genome variation and the origin of modern humans. Nature · 2000
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Hum. Mutat. · 1996
… and 13 more in the literature graph

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