NADH-ubiquinone oxidoreductase chain 1
Details
- Name
- NADH-ubiquinone oxidoreductase chain 1
- Synonyms
- 1.6.5.3
- MTND1
- NADH dehydrogenase subunit 1
- NADH1
- ND1
- Gene Name
- MT-ND1
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0010353|NADH-ubiquinone oxidoreductase chain 1 MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTKEP LKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSILWSG WASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWLLLPSWP LAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNIIMMNTLTTT IFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLWKNFLPLTLAL LMWYVSMPITISSIPPQT
- Number of residues
- 318
- Molecular Weight
- 35660.055
- Theoretical pI
- 6.53
- GO Classification
- FunctionsNADH dehydrogenase (ubiquinone) activityProcessescellular 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 processComponentsdendrite / 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
- NADHdh (PF00146)
- 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) ATACCCATGGCCAACCTCCTACTCCTCATTGTACCCATTCTAATCGCAATGGCATTCCTA ATGCTTACCGAACGAAAAATTCTAGGCTATATACAACTACGCAAAGGCCCCAACGTTGTA GGCCCCTACGGGCTACTACAACCCTTCGCTGACGCCATAAAACTCTTCACCAAAGAGCCC CTAAAACCCGCCACATCTACCATCACCCTCTACATCACCGCCCCGACCTTAGCTCTCACC ATCGCTCTTCTACTATGAACCCCCCTCCCCATACCCAACCCCCTGGTCAACCTCAACCTA GGCCTCCTATTTATTCTAGCCACCTCTAGCCTAGCCGTTTACTCAATCCTCTGATCAGGG TGAGCATCAAACTCAAACTACGCCCTGATCGGCGCACTGCGAGCAGTAGCCCAAACAATC TCATATGAAGTCACCCTAGCCATCATTCTACTATCAACATTACTAATAAGTGGCTCCTTT AACCTCTCCACCCTTATCACAACACAAGAACACCTCTGATTACTCCTGCCATCATGACCC TTGGCCATAATATGATTTATCTCCACACTAGCAGAGACCAACCGAACCCCCTTCGACCTT GCCGAAGGGGAGTCCGAACTAGTCTCAGGCTTCAACATCGAATACGCCGCAGGCCCCTTC GCCCTATTCTTCATAGCCGAATACACAAACATTATTATAATAAACACCCTCACCACTACA ATCTTCCTAGGAACAACATATGACGCACTCTCCCCTGAACTCTACACAACATATTTTGTC ACCAAGACCCTACTTCTAACCTCCCTGTTCTTATGAATTCGAACAGCATACCCCCGATTC CGCTACGACCAACTCATACACCTCCTATGAAAAAACTTCCTACCACTCACCCTAGCATTA CTTATATGATATGTCTCCATACCCATTACAATCTCCAGCATTCCCCCTCAAACCTA
- Chromosome Location
- Not Available
- Locus
- -
- External Identifiers
Resource Link UniProtKB ID P03886 UniProtKB Entry Name NU1M_HUMAN GenBank Protein ID 13004 GenBank Gene ID V00662 GenAtlas ID MT-ND1 HGNC ID HGNC:7455 - General References
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- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
- 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]
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- 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]
- 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]
- 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]
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- 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 ID Name Drug group Pharmacological action? Actions Details DB00157 NADH approved, nutraceutical unknown binder Details DB01028 Methoxyflurane approved, investigational, vet_approved, withdrawn unknown unknown Details DB01159 Halothane approved, vet_approved unknown inhibitor Details DB01189 Desflurane approved yes inhibitor Details DB01236 Sevoflurane approved, vet_approved unknown inhibitor Details DB04464 N-Formylmethionine experimental unknown Details DB00753 Isoflurane approved, vet_approved unknown inhibitor Details DB12695 Phenethyl Isothiocyanate investigational unknown Details