NADH-ubiquinone oxidoreductase chain 1


NADH-ubiquinone oxidoreductase chain 1
  • MTND1
  • NADH dehydrogenase subunit 1
  • NADH1
  • ND1
Gene Name
Amino acid sequence
>lcl|BSEQ0010353|NADH-ubiquinone oxidoreductase chain 1
Number of residues
Molecular Weight
Theoretical pI
GO Classification
NADH dehydrogenase (ubiquinone) activity
cellular metabolic process / mitochondrial electron transport, NADH to ubiquinone / respiratory electron transport chain / response to drug / response to hydroperoxide / response to organic cyclic compound / small molecule metabolic process
dendrite / integral component of membrane / mitochondrial inner membrane / mitochondrial membrane / mitochondrial respiratory chain complex I / neuronal cell body
General Function
Nadh dehydrogenase (ubiquinone) activity
Specific Function
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).
Pfam Domain Function
Transmembrane Regions
2-22 68-88 100-120 146-166 171-191 231-251 253-273 294-314
Cellular Location
Mitochondrion inner membrane
Gene sequence
>lcl|BSEQ0010354|NADH-ubiquinone oxidoreductase chain 1 (MT-ND1)
Chromosome Location
Not Available
External Identifiers
UniProtKB IDP03886
UniProtKB Entry NameNU1M_HUMAN
GenBank Protein ID13004
GenBank Gene IDV00662
GenAtlas IDMT-ND1
General References
  1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457-65. [Article]
  2. Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. Proc Natl Acad Sci U S A. 1995 Jan 17;92(2):532-6. [Article]
  3. Moilanen JS, Finnila S, Majamaa K: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol Biol Evol. 2003 Dec;20(12):2132-42. Epub 2003 Aug 29. [Article]
  4. Ingman M, Kaessmann H, Paabo S, Gyllensten U: Mitochondrial genome variation and the origin of modern humans. Nature. 2000 Dec 7;408(6813):708-13. [Article]
  5. Ingman M, Gyllensten U: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. 2003 Jul;13(7):1600-6. [Article]
  6. Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med. 2004 Jun;118(3):137-46. Epub 2004 Feb 4. [Article]
  7. Ennafaa H, Cabrera VM, Abu-Amero KK, Gonzalez AM, Amor MB, Bouhaha R, Dzimiri N, Elgaaied AB, Larruga JM: Mitochondrial DNA haplogroup H structure in North Africa. BMC Genet. 2009 Feb 25;10:8. doi: 10.1186/1471-2156-10-8. [Article]
  8. Sanger F, Coulson AR, Barrell BG, Smith AJ, Roe BA: Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing. J Mol Biol. 1980 Oct 25;143(2):161-78. [Article]
  9. Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G: Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Nature. 1985 Apr 18-24;314(6012):592-7. [Article]
  10. Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA: The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem. 2003 Apr 18;278(16):13619-22. Epub 2003 Feb 28. [Article]
  11. Yu P, Yu DM, Liu DM, Wang K, Tang XZ: Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes. Chin Med J (Engl). 2004 Jul;117(7):985-9. [Article]
  12. Delmiro A, Rivera H, Garcia-Silva MT, Garcia-Consuegra I, Martin-Hernandez E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martin MA, Arenas J, Martinez-Azorin F: 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 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10. [Article]
  13. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [Article]
  14. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM: Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991 Nov;49(5):939-50. [Article]
  15. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML: A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet. 1991 Jun;48(6):1147-53. [Article]
  16. Howell N, Kubacka I, Xu M, McCullough DA: Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991 May;48(5):935-42. [Article]
  17. Johns DR, Berman J: Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. [Article]
  18. Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M: Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett. 1991 Nov 4;292(1-2):289-92. [Article]
  19. Marzuki S, Noer AS, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet. 1991 Dec;88(2):139-45. [Article]
  20. Johns DR, Neufeld MJ, Park RD: An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551-7. [Article]
  21. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, et al.: Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 1993 Jul;17(1):171-84. [Article]
  22. Jaksch M, Hofmann S, Kaufhold P, Obermaier-Kusser B, Zierz S, Gerbitz KD: A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Hum Mutat. 1996;7(4):358-60. [Article]
  23. Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y, et al.: A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun. 1995 Apr 17;209(2):664-8. [Article]
  24. Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F: 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 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00157NADHapproved, nutraceuticalunknownbinderDetails
DB01028Methoxyfluraneapproved, investigational, vet_approved, withdrawnunknownunknownDetails
DB01159Halothaneapproved, vet_approvedunknowninhibitorDetails
DB01236Sevofluraneapproved, vet_approvedunknowninhibitorDetails
DB00753Isofluraneapproved, vet_approvedunknowninhibitorDetails
DB12695Phenethyl IsothiocyanateinvestigationalunknownDetails