NU1M_HUMAN
ID NU1M_HUMAN Reviewed; 318 AA.
AC P03886; C0JKH6; Q37523;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 21-JUL-1986, sequence version 1.
DT 03-AUG-2022, entry version 206.
DE RecName: Full=NADH-ubiquinone oxidoreductase chain 1;
DE EC=7.1.1.2 {ECO:0000269|PubMed:1959619};
DE AltName: Full=NADH dehydrogenase subunit 1;
GN Name=MT-ND1; Synonyms=MTND1, NADH1, ND1;
OS Homo sapiens (Human).
OG Mitochondrion.
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=7219534; DOI=10.1038/290457a0;
RA Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R.,
RA Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H.,
RA Smith A.J.H., Staden R., Young I.G.;
RT "Sequence and organization of the human mitochondrial genome.";
RL Nature 290:457-465(1981).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ALA-87 AND ALA-168.
RC TISSUE=Placenta;
RX PubMed=7530363; DOI=10.1073/pnas.92.2.532;
RA Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.;
RT "Recent African origin of modern humans revealed by complete sequences of
RT hominoid mitochondrial DNAs.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12949126; DOI=10.1093/molbev/msg230;
RA Moilanen J.S., Finnila S., Majamaa K.;
RT "Lineage-specific selection in human mtDNA: lack of polymorphisms in a
RT segment of MTND5 gene in haplogroup J.";
RL Mol. Biol. Evol. 20:2132-2142(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11130070; DOI=10.1038/35047064;
RA Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.;
RT "Mitochondrial genome variation and the origin of modern humans.";
RL Nature 408:708-713(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12840039; DOI=10.1101/gr.686603;
RA Ingman M., Gyllensten U.;
RT "Mitochondrial genome variation and evolutionary history of Australian and
RT New Guinean aborigines.";
RL Genome Res. 13:1600-1606(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=14760490; DOI=10.1007/s00414-004-0427-6;
RA Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T.,
RA Irwin J.A., Parsons T.J.;
RT "Single nucleotide polymorphisms over the entire mtDNA genome that increase
RT the power of forensic testing in Caucasians.";
RL Int. J. Legal Med. 118:137-146(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=19243582; DOI=10.1186/1471-2156-10-8;
RA Ennafaa H., Cabrera V.M., Abu-Amero K.K., Gonzalez A.M., Amor M.B.,
RA Bouhaha R., Dzimiri N., Elgaaied A.B., Larruga J.M.;
RT "Mitochondrial DNA haplogroup H structure in North Africa.";
RL BMC Genet. 10:8-8(2009).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 130-318.
RX PubMed=6260957; DOI=10.1016/0022-2836(80)90196-5;
RA Sanger F., Coulson A.R., Barrell B.G., Smith A.J.H., Roe B.A.;
RT "Cloning in single-stranded bacteriophage as an aid to rapid DNA
RT sequencing.";
RL J. Mol. Biol. 143:161-178(1980).
RN [9]
RP IDENTIFICATION OF PROTEIN.
RX PubMed=3921850; DOI=10.1038/314592a0;
RA Chomyn A., Mariottini P., Cleeter M.W.J., Ragan C.I., Matsuno-Yagi A.,
RA Hatefi Y., Doolittle R.F., Attardi G.;
RT "Six unidentified reading frames of human mitochondrial DNA encode
RT components of the respiratory-chain NADH dehydrogenase.";
RL Nature 314:592-597(1985).
RN [10]
RP IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=12611891; DOI=10.1074/jbc.c300064200;
RA Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F.,
RA Ghosh S.S., Capaldi R.A.;
RT "The subunit composition of the human NADH dehydrogenase obtained by rapid
RT one-step immunopurification.";
RL J. Biol. Chem. 278:13619-13622(2003).
RN [11]
RP POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM.
RX PubMed=15265369;
RA Yu P., Yu D.M., Liu D.M., Wang K., Tang X.Z.;
RT "Relationship between mutations of mitochondrial DNA ND1 gene and type 2
RT diabetes.";
RL Chin. Med. J. 117:985-989(2004).
RN [12]
RP FUNCTION.
RX PubMed=26929434; DOI=10.1096/fj.201500137r;
RA Lim S.C., Hroudova J., Van Bergen N.J., Lopez Sanchez M.I., Trounce I.A.,
RA McKenzie M.;
RT "Loss of mitochondrial DNA-encoded protein ND1 results in disruption of
RT complex I biogenesis during early stages of assembly.";
RL FASEB J. 30:2236-2248(2016).
RN [13]
RP VARIANT LYS-214.
RX PubMed=24105702; DOI=10.1002/humu.22445;
RA Delmiro A., Rivera H., Garcia-Silva M.T., Garcia-Consuegra I.,
RA Martin-Hernandez E., Quijada-Fraile P., de Las Heras R.S.,
RA Moreno-Izquierdo A., Martin M.A., Arenas J., Martinez-Azorin F.;
RT "Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1
RT gene associated with epileptic encephalopathy: west syndrome evolving to
RT Lennox-Gastaut syndrome.";
RL Hum. Mutat. 34:1623-1627(2013).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [15]
RP VARIANT LHON THR-52.
RX PubMed=1928099;
RA Howell N., Bindoff L.A., McCullough D.A., Kubacka I., Poulton J.,
RA Mackey D., Taylor L., Turnbull D.M.;
RT "Leber hereditary optic neuropathy: identification of the same
RT mitochondrial ND1 mutation in six pedigrees.";
RL Am. J. Hum. Genet. 49:939-950(1991).
RN [16]
RP VARIANT LHON THR-52.
RX PubMed=1674640;
RA Huoponen K., Vilkki J., Aula P., Nikoskelainen E.K., Savontaus M.L.;
RT "A new mtDNA mutation associated with Leber hereditary optic
RT neuroretinopathy.";
RL Am. J. Hum. Genet. 48:1147-1153(1991).
RN [17]
RP VARIANT LHON PRO-285, AND VARIANT CYS-277.
RX PubMed=2018041;
RA Howell N., Kubacka I., Xu M., McCullough D.A.;
RT "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1
RT gene and evidence for an intragenic suppressor mutation.";
RL Am. J. Hum. Genet. 48:935-942(1991).
RN [18]
RP VARIANT LHON HIS-304.
RX PubMed=1900003; DOI=10.1016/0006-291x(91)91567-v;
RA Johns D.R., Berman J.;
RT "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's
RT hereditary optic neuropathy.";
RL Biochem. Biophys. Res. Commun. 174:1324-1330(1991).
RN [19]
RP CHARACTERIZATION OF VARIANT LHON THR-52, FUNCTION, AND CATALYTIC ACTIVITY.
RX PubMed=1959619; DOI=10.1016/0014-5793(91)80886-8;
RA Majander A., Huoponen K., Savontaus M.-L., Nikoskelainen E., Wikstroem M.;
RT "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460
RT and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy
RT (LHON).";
RL FEBS Lett. 292:289-292(1991).
RN [20]
RP VARIANTS PRO-205; CYS-255 AND PRO-288.
RX PubMed=1757091; DOI=10.1007/bf00206061;
RA Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R.,
RA Utthanaphol P., Byrne E.;
RT "Normal variants of human mitochondrial DNA and translation products: the
RT building of a reference data base.";
RL Hum. Genet. 88:139-145(1991).
RN [21]
RP VARIANT LHON HIS-30.
RX PubMed=1417830; DOI=10.1016/0006-291x(92)90479-5;
RA Johns D.R., Neufeld M.J., Park R.D.;
RT "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic
RT neuropathy.";
RL Biochem. Biophys. Res. Commun. 187:1551-1557(1992).
RN [22]
RP POSSIBLE INVOLVEMENT IN AD-MT, AND VARIANT AD-MT VAL-31.
RX PubMed=8104867; DOI=10.1006/geno.1993.1299;
RA Shoffner J.M., Brown M.D., Torroni A., Lott M.T., Cabell M.F., Mirra S.S.,
RA Beal M.F., Yang C.-C., Gearing M., Salvo R., Watts R.L., Juncos J.L.,
RA Hansen L.A., Crain B.J., Fayad M., Reckord C.L., Wallace D.C.;
RT "Mitochondrial DNA variants observed in Alzheimer disease and Parkinson
RT disease patients.";
RL Genomics 17:171-184(1993).
RN [23]
RP VARIANT MELAS THR-31.
RX PubMed=8723687;
RX DOI=10.1002/(sici)1098-1004(1996)7:4<358::aid-humu11>3.0.co;2-1;
RA Jaksch M., Hofmann S., Kaufhold P., Obermaier-Kusser B., Zierz S.,
RA Gerbitz K.-D.;
RT "A novel combination of mitochondrial tRNA and ND1 gene mutations in a
RT syndrome with MELAS, cardiomyopathy, and diabetes mellitus.";
RL Hum. Mutat. 7:358-360(1996).
RN [24]
RP VARIANT THR-4, AND POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM.
RX PubMed=7733935; DOI=10.1006/bbrc.1995.1550;
RA Nakagawa Y., Ikegami H., Yamato E., Takekawa K., Fujisawa T., Hamada Y.,
RA Ueda H., Uchigata Y., Miki T., Kumahara Y.;
RT "A new mitochondrial DNA mutation associated with non-insulin-dependent
RT diabetes mellitus.";
RL Biochem. Biophys. Res. Commun. 209:664-668(1995).
RN [25]
RP VARIANT CYS-30.
RX PubMed=21144833; DOI=10.1016/j.bbrc.2010.12.012;
RA Chamkha I., Mkaouar-Rebai E., Aloulou H., Chabchoub I., Kifagi C.,
RA Fendri-Kriaa N., Kammoun T., Hachicha M., Fakhfakh F.;
RT "A novel m.3395A>G missense mutation in the mitochondrial ND1 gene
RT associated with the new tRNA(Ile) m.4316A>G mutation in a patient with
RT hypertrophic cardiomyopathy and profound hearing loss.";
RL Biochem. Biophys. Res. Commun. 404:504-510(2011).
CC -!- FUNCTION: Core subunit of the mitochondrial membrane respiratory chain
CC NADH dehydrogenase (Complex I) which catalyzes electron transfer from
CC NADH through the respiratory chain, using ubiquinone as an electron
CC acceptor (PubMed:1959619). Essential for the catalytic activity and
CC assembly of complex I (PubMed:26929434, PubMed:1959619).
CC {ECO:0000269|PubMed:1959619, ECO:0000269|PubMed:26929434}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) +
CC NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-
CC COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976,
CC ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2;
CC Evidence={ECO:0000269|PubMed:1959619};
CC -!- SUBUNIT: Core subunit of respiratory chain NADH dehydrogenase (Complex
CC I) which is composed of 45 different subunits.
CC {ECO:0000269|PubMed:12611891}.
CC -!- INTERACTION:
CC P03886; P43490: NAMPT; NbExp=3; IntAct=EBI-1246156, EBI-2829310;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:P03887}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A
CC maternally inherited form of Leber hereditary optic neuropathy, a
CC mitochondrial disease resulting in bilateral painless loss of central
CC vision due to selective degeneration of the retinal ganglion cells and
CC their axons. The disorder shows incomplete penetrance and male
CC predominance. Cardiac conduction defects and neurological defects have
CC also been described in some LHON patients. LHON results from primary
CC mitochondrial DNA mutations affecting the respiratory chain complexes.
CC {ECO:0000269|PubMed:1417830, ECO:0000269|PubMed:1674640,
CC ECO:0000269|PubMed:1900003, ECO:0000269|PubMed:1928099,
CC ECO:0000269|PubMed:1959619, ECO:0000269|PubMed:2018041}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Mitochondrial encephalomyopathy with lactic acidosis and
CC stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically
CC heterogeneous disorder, characterized by episodic vomiting, seizures,
CC and recurrent cerebral insults resembling strokes and causing
CC hemiparesis, hemianopsia, or cortical blindness.
CC {ECO:0000269|PubMed:8723687}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Alzheimer disease mitochondrial (AD-MT) [MIM:502500]:
CC Alzheimer disease is a neurodegenerative disorder characterized by
CC progressive dementia, loss of cognitive abilities, and deposition of
CC fibrillar amyloid proteins as intraneuronal neurofibrillary tangles,
CC extracellular amyloid plaques and vascular amyloid deposits. The major
CC constituents of these plaques are neurotoxic amyloid-beta protein 40
CC and amyloid-beta protein 42, that are produced by the proteolysis of
CC the transmembrane APP protein. The cytotoxic C-terminal fragments
CC (CTFs) and the caspase-cleaved products, such as C31, are also
CC implicated in neuronal death. {ECO:0000269|PubMed:8104867}.
CC Note=Disease susceptibility may be associated with variants affecting
CC the gene represented in this entry.
CC -!- DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]:
CC A multifactorial disorder of glucose homeostasis caused by a lack of
CC sensitivity to the body's own insulin. Affected individuals usually
CC have an obese body habitus and manifestations of a metabolic syndrome
CC characterized by diabetes, insulin resistance, hypertension and
CC hypertriglyceridemia. The disease results in long-term complications
CC that affect the eyes, kidneys, nerves, and blood vessels.
CC {ECO:0000269|PubMed:15265369, ECO:0000269|PubMed:7733935}. Note=The
CC gene represented in this entry may be involved in disease pathogenesis.
CC -!- SIMILARITY: Belongs to the complex I subunit 1 family. {ECO:0000305}.
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DR EMBL; V00662; CAA24026.1; -; Genomic_DNA.
DR EMBL; J01415; AAB58943.1; -; Genomic_DNA.
DR EMBL; D38112; BAA07290.1; -; Genomic_DNA.
DR EMBL; AY339402; AAP89036.1; -; Genomic_DNA.
DR EMBL; AY339403; AAP89049.1; -; Genomic_DNA.
DR EMBL; AY339404; AAP89062.1; -; Genomic_DNA.
DR EMBL; AY339405; AAP89075.1; -; Genomic_DNA.
DR EMBL; AY339406; AAP89088.1; -; Genomic_DNA.
DR EMBL; AY339407; AAP89101.1; -; Genomic_DNA.
DR EMBL; AY339408; AAP89114.1; -; Genomic_DNA.
DR EMBL; AY339409; AAP89127.1; -; Genomic_DNA.
DR EMBL; AY339410; AAP89140.1; -; Genomic_DNA.
DR EMBL; AY339411; AAP89153.1; -; Genomic_DNA.
DR EMBL; AY339412; AAP89166.1; -; Genomic_DNA.
DR EMBL; AY339413; AAP89179.1; -; Genomic_DNA.
DR EMBL; AY339414; AAP89192.1; -; Genomic_DNA.
DR EMBL; AY339415; AAP89205.1; -; Genomic_DNA.
DR EMBL; AY339416; AAP89218.1; -; Genomic_DNA.
DR EMBL; AY339417; AAP89231.1; -; Genomic_DNA.
DR EMBL; AY339418; AAP89244.1; -; Genomic_DNA.
DR EMBL; AY339419; AAP89257.1; -; Genomic_DNA.
DR EMBL; AY339420; AAP89270.1; -; Genomic_DNA.
DR EMBL; AY339421; AAP89283.1; -; Genomic_DNA.
DR EMBL; AY339422; AAP89296.1; -; Genomic_DNA.
DR EMBL; AY339423; AAP89309.1; -; Genomic_DNA.
DR EMBL; AY339424; AAP89322.1; -; Genomic_DNA.
DR EMBL; AY339425; AAP89335.1; -; Genomic_DNA.
DR EMBL; AY339426; AAP89348.1; -; Genomic_DNA.
DR EMBL; AY339427; AAP89361.1; -; Genomic_DNA.
DR EMBL; AY339428; AAP89374.1; -; Genomic_DNA.
DR EMBL; AY339429; AAP89387.1; -; Genomic_DNA.
DR EMBL; AY339430; AAP89400.1; -; Genomic_DNA.
DR EMBL; AY339431; AAP89413.1; -; Genomic_DNA.
DR EMBL; AY339432; AAP89426.1; -; Genomic_DNA.
DR EMBL; AY339433; AAP89439.1; -; Genomic_DNA.
DR EMBL; AY339434; AAP89452.1; -; Genomic_DNA.
DR EMBL; AY339435; AAP89465.1; -; Genomic_DNA.
DR EMBL; AY339436; AAP89478.1; -; Genomic_DNA.
DR EMBL; AY339437; AAP89491.1; -; Genomic_DNA.
DR EMBL; AY339438; AAP89504.1; -; Genomic_DNA.
DR EMBL; AY339439; AAP89517.1; -; Genomic_DNA.
DR EMBL; AY339440; AAP89530.1; -; Genomic_DNA.
DR EMBL; AY339441; AAP89543.1; -; Genomic_DNA.
DR EMBL; AY339442; AAP89556.1; -; Genomic_DNA.
DR EMBL; AY339443; AAP89569.1; -; Genomic_DNA.
DR EMBL; AY339444; AAP89582.1; -; Genomic_DNA.
DR EMBL; AY339445; AAP89595.1; -; Genomic_DNA.
DR EMBL; AY339446; AAP89608.1; -; Genomic_DNA.
DR EMBL; AY339447; AAP89621.1; -; Genomic_DNA.
DR EMBL; AY339448; AAP89634.1; -; Genomic_DNA.
DR EMBL; AY339449; AAP89647.1; -; Genomic_DNA.
DR EMBL; AY339450; AAP89660.1; -; Genomic_DNA.
DR EMBL; AY339451; AAP89673.1; -; Genomic_DNA.
DR EMBL; AY339452; AAP89686.1; -; Genomic_DNA.
DR EMBL; AY339453; AAP89699.1; -; Genomic_DNA.
DR EMBL; AY339454; AAP89712.1; -; Genomic_DNA.
DR EMBL; AY339455; AAP89725.1; -; Genomic_DNA.
DR EMBL; AY339456; AAP89738.1; -; Genomic_DNA.
DR EMBL; AY339457; AAP89751.1; -; Genomic_DNA.
DR EMBL; AY339458; AAP89764.1; -; Genomic_DNA.
DR EMBL; AY339459; AAP89777.1; -; Genomic_DNA.
DR EMBL; AY339498; AAP90284.1; -; Genomic_DNA.
DR EMBL; AY339499; AAP90297.1; -; Genomic_DNA.
DR EMBL; AY339500; AAP90310.1; -; Genomic_DNA.
DR EMBL; AY339501; AAP90323.1; -; Genomic_DNA.
DR EMBL; AY339502; AAP90336.1; -; Genomic_DNA.
DR EMBL; AY339503; AAP90349.1; -; Genomic_DNA.
DR EMBL; AY339504; AAP90362.1; -; Genomic_DNA.
DR EMBL; AY339505; AAP90375.1; -; Genomic_DNA.
DR EMBL; AY339506; AAP90388.1; -; Genomic_DNA.
DR EMBL; AY339507; AAP90401.1; -; Genomic_DNA.
DR EMBL; AY339508; AAP90414.1; -; Genomic_DNA.
DR EMBL; AY339509; AAP90427.1; -; Genomic_DNA.
DR EMBL; AY339510; AAP90440.1; -; Genomic_DNA.
DR EMBL; AY339511; AAP90453.1; -; Genomic_DNA.
DR EMBL; AY339512; AAP90466.1; -; Genomic_DNA.
DR EMBL; AY339513; AAP90479.1; -; Genomic_DNA.
DR EMBL; AY339514; AAP90492.1; -; Genomic_DNA.
DR EMBL; AY339515; AAP90505.1; -; Genomic_DNA.
DR EMBL; AY339516; AAP90518.1; -; Genomic_DNA.
DR EMBL; AY339517; AAP90531.1; -; Genomic_DNA.
DR EMBL; AY339518; AAP90544.1; -; Genomic_DNA.
DR EMBL; AY339519; AAP90557.1; -; Genomic_DNA.
DR EMBL; AY339520; AAP90570.1; -; Genomic_DNA.
DR EMBL; AY339521; AAP90583.1; -; Genomic_DNA.
DR EMBL; AY339522; AAP90596.1; -; Genomic_DNA.
DR EMBL; AY339523; AAP90609.1; -; Genomic_DNA.
DR EMBL; AY339524; AAP90622.1; -; Genomic_DNA.
DR EMBL; AY339525; AAP90635.1; -; Genomic_DNA.
DR EMBL; AY339526; AAP90648.1; -; Genomic_DNA.
DR EMBL; AY339527; AAP90661.1; -; Genomic_DNA.
DR EMBL; AY339528; AAP90674.1; -; Genomic_DNA.
DR EMBL; AY339529; AAP90687.1; -; Genomic_DNA.
DR EMBL; AY339530; AAP90700.1; -; Genomic_DNA.
DR EMBL; AY339531; AAP90713.1; -; Genomic_DNA.
DR EMBL; AY339532; AAP90726.1; -; Genomic_DNA.
DR EMBL; AY339533; AAP90739.1; -; Genomic_DNA.
DR EMBL; AY339534; AAP90752.1; -; Genomic_DNA.
DR EMBL; AY339535; AAP90765.1; -; Genomic_DNA.
DR EMBL; AY339536; AAP90778.1; -; Genomic_DNA.
DR EMBL; AY339537; AAP90791.1; -; Genomic_DNA.
DR EMBL; AY339538; AAP90804.1; -; Genomic_DNA.
DR EMBL; AY339539; AAP90817.1; -; Genomic_DNA.
DR EMBL; AY339540; AAP90830.1; -; Genomic_DNA.
DR EMBL; AY339541; AAP90843.1; -; Genomic_DNA.
DR EMBL; AY339542; AAP90856.1; -; Genomic_DNA.
DR EMBL; AY339543; AAP90869.1; -; Genomic_DNA.
DR EMBL; AY339544; AAP90882.1; -; Genomic_DNA.
DR EMBL; AY339546; AAP90908.1; -; Genomic_DNA.
DR EMBL; AY339547; AAP90921.1; -; Genomic_DNA.
DR EMBL; AY339548; AAP90934.1; -; Genomic_DNA.
DR EMBL; AY339549; AAP90947.1; -; Genomic_DNA.
DR EMBL; AY339550; AAP90960.1; -; Genomic_DNA.
DR EMBL; AY339551; AAP90973.1; -; Genomic_DNA.
DR EMBL; AY339552; AAP90986.1; -; Genomic_DNA.
DR EMBL; AY339553; AAP90999.1; -; Genomic_DNA.
DR EMBL; AY339554; AAP91012.1; -; Genomic_DNA.
DR EMBL; AY339555; AAP91025.1; -; Genomic_DNA.
DR EMBL; AY339556; AAP91038.1; -; Genomic_DNA.
DR EMBL; AY339557; AAP91051.1; -; Genomic_DNA.
DR EMBL; AY339558; AAP91064.1; -; Genomic_DNA.
DR EMBL; AY339559; AAP91077.1; -; Genomic_DNA.
DR EMBL; AY339560; AAP91090.1; -; Genomic_DNA.
DR EMBL; AY339561; AAP91103.1; -; Genomic_DNA.
DR EMBL; AY339562; AAP91116.1; -; Genomic_DNA.
DR EMBL; AY339563; AAP91129.1; -; Genomic_DNA.
DR EMBL; AY339564; AAP91142.1; -; Genomic_DNA.
DR EMBL; AY339565; AAP91155.1; -; Genomic_DNA.
DR EMBL; AF346963; AAK17207.1; -; Genomic_DNA.
DR EMBL; AF346964; AAK17220.1; -; Genomic_DNA.
DR EMBL; AF346965; AAK17233.1; -; Genomic_DNA.
DR EMBL; AF346966; AAK17246.1; -; Genomic_DNA.
DR EMBL; AF346967; AAK17259.1; -; Genomic_DNA.
DR EMBL; AF346970; AAK17298.1; -; Genomic_DNA.
DR EMBL; AF346971; AAK17311.1; -; Genomic_DNA.
DR EMBL; AF346974; AAK17350.1; -; Genomic_DNA.
DR EMBL; AF346975; AAK17363.1; -; Genomic_DNA.
DR EMBL; AF346976; AAK17376.1; -; Genomic_DNA.
DR EMBL; AF346977; AAK17389.1; -; Genomic_DNA.
DR EMBL; AF346978; AAK17402.1; -; Genomic_DNA.
DR EMBL; AF346979; AAK17415.1; -; Genomic_DNA.
DR EMBL; AF346980; AAK17428.1; -; Genomic_DNA.
DR EMBL; AF346981; AAK17441.1; -; Genomic_DNA.
DR EMBL; AF346984; AAK17480.1; -; Genomic_DNA.
DR EMBL; AF346988; AAK17532.1; -; Genomic_DNA.
DR EMBL; AF346989; AAK17545.1; -; Genomic_DNA.
DR EMBL; AF346990; AAK17558.1; -; Genomic_DNA.
DR EMBL; AF346991; AAK17571.1; -; Genomic_DNA.
DR EMBL; AF346992; AAK17584.1; -; Genomic_DNA.
DR EMBL; AF346993; AAK17597.1; -; Genomic_DNA.
DR EMBL; AF346994; AAK17610.1; -; Genomic_DNA.
DR EMBL; AF346995; AAK17623.1; -; Genomic_DNA.
DR EMBL; AF346998; AAK17662.1; -; Genomic_DNA.
DR EMBL; AF346999; AAK17675.1; -; Genomic_DNA.
DR EMBL; AF347000; AAK17688.1; -; Genomic_DNA.
DR EMBL; AF347002; AAK17714.1; -; Genomic_DNA.
DR EMBL; AF347003; AAK17727.1; -; Genomic_DNA.
DR EMBL; AF347004; AAK17740.1; -; Genomic_DNA.
DR EMBL; AF347005; AAK17753.1; -; Genomic_DNA.
DR EMBL; AF347006; AAK17766.1; -; Genomic_DNA.
DR EMBL; AF347007; AAK17779.1; -; Genomic_DNA.
DR EMBL; AF347008; AAK17792.1; -; Genomic_DNA.
DR EMBL; AF347009; AAK17805.1; -; Genomic_DNA.
DR EMBL; AF347011; AAK17831.1; -; Genomic_DNA.
DR EMBL; AF347012; AAK17844.1; -; Genomic_DNA.
DR EMBL; AF347013; AAK17857.1; -; Genomic_DNA.
DR EMBL; AF347015; AAK17883.1; -; Genomic_DNA.
DR EMBL; AY289051; AAP47880.1; -; Genomic_DNA.
DR EMBL; AY289052; AAP47893.1; -; Genomic_DNA.
DR EMBL; AY289053; AAP47906.1; -; Genomic_DNA.
DR EMBL; AY289054; AAP47919.1; -; Genomic_DNA.
DR EMBL; AY289055; AAP47932.1; -; Genomic_DNA.
DR EMBL; AY289056; AAP47945.1; -; Genomic_DNA.
DR EMBL; AY289057; AAP47958.1; -; Genomic_DNA.
DR EMBL; AY289058; AAP47971.1; -; Genomic_DNA.
DR EMBL; AY289059; AAP47984.1; -; Genomic_DNA.
DR EMBL; AY289063; AAP48036.1; -; Genomic_DNA.
DR EMBL; AY289064; AAP48049.1; -; Genomic_DNA.
DR EMBL; AY289065; AAP48062.1; -; Genomic_DNA.
DR EMBL; AY289066; AAP48075.1; -; Genomic_DNA.
DR EMBL; AY289067; AAP48088.1; -; Genomic_DNA.
DR EMBL; AY289068; AAP48101.1; -; Genomic_DNA.
DR EMBL; AY289069; AAP48114.1; -; Genomic_DNA.
DR EMBL; AY289070; AAP48127.1; -; Genomic_DNA.
DR EMBL; AY289071; AAP48140.1; -; Genomic_DNA.
DR EMBL; AY289072; AAP48153.1; -; Genomic_DNA.
DR EMBL; AY289073; AAP48166.1; -; Genomic_DNA.
DR EMBL; AY289074; AAP48179.1; -; Genomic_DNA.
DR EMBL; AY289075; AAP48192.1; -; Genomic_DNA.
DR EMBL; AY289076; AAP48205.1; -; Genomic_DNA.
DR EMBL; AY289077; AAP48218.1; -; Genomic_DNA.
DR EMBL; AY289078; AAP48231.1; -; Genomic_DNA.
DR EMBL; AY289079; AAP48244.1; -; Genomic_DNA.
DR EMBL; AY289080; AAP48257.1; -; Genomic_DNA.
DR EMBL; AY289083; AAP48296.1; -; Genomic_DNA.
DR EMBL; AY289084; AAP48309.1; -; Genomic_DNA.
DR EMBL; AY289085; AAP48322.1; -; Genomic_DNA.
DR EMBL; AY289086; AAP48335.1; -; Genomic_DNA.
DR EMBL; AY289087; AAP48348.1; -; Genomic_DNA.
DR EMBL; AY289088; AAP48361.1; -; Genomic_DNA.
DR EMBL; AY289089; AAP48374.1; -; Genomic_DNA.
DR EMBL; AY289090; AAP48387.1; -; Genomic_DNA.
DR EMBL; AY289091; AAP48400.1; -; Genomic_DNA.
DR EMBL; AY289092; AAP48413.1; -; Genomic_DNA.
DR EMBL; AY289094; AAP48438.1; -; Genomic_DNA.
DR EMBL; AY289095; AAP48451.1; -; Genomic_DNA.
DR EMBL; AY289096; AAP48464.1; -; Genomic_DNA.
DR EMBL; AY289099; AAP48503.1; -; Genomic_DNA.
DR EMBL; AY289100; AAP48516.1; -; Genomic_DNA.
DR EMBL; AY289101; AAP48529.1; -; Genomic_DNA.
DR EMBL; AY289102; AAP48542.1; -; Genomic_DNA.
DR EMBL; AY495090; AAR92496.1; -; Genomic_DNA.
DR EMBL; AY495091; AAR92509.1; -; Genomic_DNA.
DR EMBL; AY495092; AAR92522.1; -; Genomic_DNA.
DR EMBL; AY495093; AAR92535.1; -; Genomic_DNA.
DR EMBL; AY495094; AAR92548.1; -; Genomic_DNA.
DR EMBL; AY495096; AAR92574.1; -; Genomic_DNA.
DR EMBL; AY495097; AAR92587.1; -; Genomic_DNA.
DR EMBL; AY495098; AAR92600.1; -; Genomic_DNA.
DR EMBL; AY495099; AAR92613.1; -; Genomic_DNA.
DR EMBL; AY495100; AAR92626.1; -; Genomic_DNA.
DR EMBL; AY495102; AAR92652.1; -; Genomic_DNA.
DR EMBL; AY495103; AAR92665.1; -; Genomic_DNA.
DR EMBL; AY495104; AAR92678.1; -; Genomic_DNA.
DR EMBL; AY495105; AAR92691.1; -; Genomic_DNA.
DR EMBL; AY495106; AAR92704.1; -; Genomic_DNA.
DR EMBL; AY495107; AAR92717.1; -; Genomic_DNA.
DR EMBL; AY495108; AAR92730.1; -; Genomic_DNA.
DR EMBL; AY495109; AAR92743.1; -; Genomic_DNA.
DR EMBL; AY495110; AAR92756.1; -; Genomic_DNA.
DR EMBL; AY495112; AAR92782.1; -; Genomic_DNA.
DR EMBL; AY495113; AAR92795.1; -; Genomic_DNA.
DR EMBL; AY495114; AAR92808.1; -; Genomic_DNA.
DR EMBL; AY495115; AAR92821.1; -; Genomic_DNA.
DR EMBL; AY495117; AAR92847.1; -; Genomic_DNA.
DR EMBL; AY495118; AAR92860.1; -; Genomic_DNA.
DR EMBL; AY495119; AAR92873.1; -; Genomic_DNA.
DR EMBL; AY495120; AAR92886.1; -; Genomic_DNA.
DR EMBL; AY495121; AAR92899.1; -; Genomic_DNA.
DR EMBL; AY495122; AAR92912.1; -; Genomic_DNA.
DR EMBL; AY495124; AAR92938.1; -; Genomic_DNA.
DR EMBL; AY495126; AAR92964.1; -; Genomic_DNA.
DR EMBL; AY495127; AAR92977.1; -; Genomic_DNA.
DR EMBL; AY495128; AAR92990.1; -; Genomic_DNA.
DR EMBL; AY495129; AAR93003.1; -; Genomic_DNA.
DR EMBL; AY495130; AAR93016.1; -; Genomic_DNA.
DR EMBL; AY495132; AAR93042.1; -; Genomic_DNA.
DR EMBL; AY495133; AAR93055.1; -; Genomic_DNA.
DR EMBL; AY495135; AAR93081.1; -; Genomic_DNA.
DR EMBL; AY495136; AAR93094.1; -; Genomic_DNA.
DR EMBL; AY495137; AAR93107.1; -; Genomic_DNA.
DR EMBL; AY495138; AAR93120.1; -; Genomic_DNA.
DR EMBL; AY495139; AAR93133.1; -; Genomic_DNA.
DR EMBL; AY495140; AAR93146.1; -; Genomic_DNA.
DR EMBL; AY495141; AAR93159.1; -; Genomic_DNA.
DR EMBL; AY495142; AAR93172.1; -; Genomic_DNA.
DR EMBL; AY495143; AAR93185.1; -; Genomic_DNA.
DR EMBL; AY495144; AAR93198.1; -; Genomic_DNA.
DR EMBL; AY495145; AAR93211.1; -; Genomic_DNA.
DR EMBL; AY495146; AAR93224.1; -; Genomic_DNA.
DR EMBL; AY495147; AAR93237.1; -; Genomic_DNA.
DR EMBL; AY495148; AAR93250.1; -; Genomic_DNA.
DR EMBL; AY495149; AAR93263.1; -; Genomic_DNA.
DR EMBL; AY495150; AAR93276.1; -; Genomic_DNA.
DR EMBL; AY495151; AAR93289.1; -; Genomic_DNA.
DR EMBL; AY495152; AAR93302.1; -; Genomic_DNA.
DR EMBL; AY495153; AAR93315.1; -; Genomic_DNA.
DR EMBL; AY495154; AAR93328.1; -; Genomic_DNA.
DR EMBL; AY495155; AAR93341.1; -; Genomic_DNA.
DR EMBL; AY495156; AAR93354.1; -; Genomic_DNA.
DR EMBL; AY495157; AAR93367.1; -; Genomic_DNA.
DR EMBL; AY495158; AAR93380.1; -; Genomic_DNA.
DR EMBL; AY495159; AAR93393.1; -; Genomic_DNA.
DR EMBL; AY495160; AAR93406.1; -; Genomic_DNA.
DR EMBL; AY495161; AAR93419.1; -; Genomic_DNA.
DR EMBL; AY495162; AAR93432.1; -; Genomic_DNA.
DR EMBL; AY495163; AAR93445.1; -; Genomic_DNA.
DR EMBL; AY495164; AAR93458.1; -; Genomic_DNA.
DR EMBL; AY495165; AAR93471.1; -; Genomic_DNA.
DR EMBL; AY495166; AAR93484.1; -; Genomic_DNA.
DR EMBL; AY495167; AAR93497.1; -; Genomic_DNA.
DR EMBL; AY495168; AAR93510.1; -; Genomic_DNA.
DR EMBL; AY495169; AAR93523.1; -; Genomic_DNA.
DR EMBL; AY495170; AAR93536.1; -; Genomic_DNA.
DR EMBL; AY495171; AAR93549.1; -; Genomic_DNA.
DR EMBL; AY495172; AAR93562.1; -; Genomic_DNA.
DR EMBL; AY495173; AAR93575.1; -; Genomic_DNA.
DR EMBL; AY495174; AAR93588.1; -; Genomic_DNA.
DR EMBL; AY495175; AAR93601.1; -; Genomic_DNA.
DR EMBL; AY495176; AAR93614.1; -; Genomic_DNA.
DR EMBL; AY495177; AAR93627.1; -; Genomic_DNA.
DR EMBL; AY495180; AAR93666.1; -; Genomic_DNA.
DR EMBL; AY495185; AAR93731.1; -; Genomic_DNA.
DR EMBL; AY495187; AAR93757.1; -; Genomic_DNA.
DR EMBL; AY495188; AAR93770.1; -; Genomic_DNA.
DR EMBL; AY495189; AAR93783.1; -; Genomic_DNA.
DR EMBL; AY495190; AAR93796.1; -; Genomic_DNA.
DR EMBL; AY495191; AAR93809.1; -; Genomic_DNA.
DR EMBL; AY495192; AAR93822.1; -; Genomic_DNA.
DR EMBL; AY495193; AAR93835.1; -; Genomic_DNA.
DR EMBL; AY495194; AAR93848.1; -; Genomic_DNA.
DR EMBL; AY495239; AAR94433.1; -; Genomic_DNA.
DR EMBL; AY495240; AAR94446.1; -; Genomic_DNA.
DR EMBL; AY495241; AAR94459.1; -; Genomic_DNA.
DR EMBL; AY495242; AAR94472.1; -; Genomic_DNA.
DR EMBL; AY495243; AAR94485.1; -; Genomic_DNA.
DR EMBL; AY495244; AAR94498.1; -; Genomic_DNA.
DR EMBL; AY495245; AAR94511.1; -; Genomic_DNA.
DR EMBL; AY495246; AAR94524.1; -; Genomic_DNA.
DR EMBL; AY495247; AAR94537.1; -; Genomic_DNA.
DR EMBL; AY495248; AAR94550.1; -; Genomic_DNA.
DR EMBL; AY495249; AAR94563.1; -; Genomic_DNA.
DR EMBL; AY495250; AAR94576.1; -; Genomic_DNA.
DR EMBL; AY495251; AAR94589.1; -; Genomic_DNA.
DR EMBL; AY495252; AAR94602.1; -; Genomic_DNA.
DR EMBL; AY495253; AAR94615.1; -; Genomic_DNA.
DR EMBL; AY495254; AAR94628.1; -; Genomic_DNA.
DR EMBL; AY495255; AAR94641.1; -; Genomic_DNA.
DR EMBL; AY495257; AAR94667.1; -; Genomic_DNA.
DR EMBL; AY495258; AAR94680.1; -; Genomic_DNA.
DR EMBL; AY495259; AAR94693.1; -; Genomic_DNA.
DR EMBL; AY495260; AAR94706.1; -; Genomic_DNA.
DR EMBL; AY495261; AAR94719.1; -; Genomic_DNA.
DR EMBL; AY495262; AAR94732.1; -; Genomic_DNA.
DR EMBL; AY495263; AAR94745.1; -; Genomic_DNA.
DR EMBL; AY495264; AAR94758.1; -; Genomic_DNA.
DR EMBL; AY495265; AAR94771.1; -; Genomic_DNA.
DR EMBL; AY495306; AAR95304.1; -; Genomic_DNA.
DR EMBL; AY495307; AAR95317.1; -; Genomic_DNA.
DR EMBL; AY495308; AAR95330.1; -; Genomic_DNA.
DR EMBL; AY495309; AAR95343.1; -; Genomic_DNA.
DR EMBL; AY495310; AAR95356.1; -; Genomic_DNA.
DR EMBL; AY495311; AAR95369.1; -; Genomic_DNA.
DR EMBL; AY495312; AAR95382.1; -; Genomic_DNA.
DR EMBL; AY495313; AAR95395.1; -; Genomic_DNA.
DR EMBL; AY495314; AAR95408.1; -; Genomic_DNA.
DR EMBL; AY495315; AAR95421.1; -; Genomic_DNA.
DR EMBL; AY495316; AAR95434.1; -; Genomic_DNA.
DR EMBL; AY495317; AAR95447.1; -; Genomic_DNA.
DR EMBL; AY495318; AAR95460.1; -; Genomic_DNA.
DR EMBL; AY495319; AAR95473.1; -; Genomic_DNA.
DR EMBL; AY495320; AAR95486.1; -; Genomic_DNA.
DR EMBL; AY495321; AAR95499.1; -; Genomic_DNA.
DR EMBL; AY495322; AAR95512.1; -; Genomic_DNA.
DR EMBL; AY495323; AAR95525.1; -; Genomic_DNA.
DR EMBL; AY495324; AAR95538.1; -; Genomic_DNA.
DR EMBL; AY495325; AAR95551.1; -; Genomic_DNA.
DR EMBL; AY495326; AAR95564.1; -; Genomic_DNA.
DR EMBL; AY495327; AAR95577.1; -; Genomic_DNA.
DR EMBL; AY495328; AAR95590.1; -; Genomic_DNA.
DR EMBL; AY495329; AAR95603.1; -; Genomic_DNA.
DR EMBL; AY495330; AAR95616.1; -; Genomic_DNA.
DR EMBL; AY495256; AAR94654.1; -; Genomic_DNA.
DR EMBL; FJ236980; ACI31490.1; -; Genomic_DNA.
DR EMBL; M10546; AAA65501.1; -; Genomic_DNA.
DR PIR; A00407; DNHUN1.
DR RefSeq; YP_003024026.1; NC_012920.1.
DR PDB; 5XTC; EM; 3.70 A; s=1-318.
DR PDB; 5XTD; EM; 3.70 A; s=1-318.
DR PDBsum; 5XTC; -.
DR PDBsum; 5XTD; -.
DR AlphaFoldDB; P03886; -.
DR SMR; P03886; -.
DR BioGRID; 110631; 70.
DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I.
DR CORUM; P03886; -.
DR IntAct; P03886; 31.
DR MINT; P03886; -.
DR STRING; 9606.ENSP00000354687; -.
DR BindingDB; P03886; -.
DR ChEMBL; CHEMBL2363065; -.
DR DrugBank; DB01189; Desflurane.
DR DrugBank; DB01159; Halothane.
DR DrugBank; DB00753; Isoflurane.
DR DrugBank; DB01028; Methoxyflurane.
DR DrugBank; DB04464; N-Formylmethionine.
DR DrugBank; DB00157; NADH.
DR DrugBank; DB12695; Phenethyl Isothiocyanate.
DR DrugBank; DB01236; Sevoflurane.
DR DrugCentral; P03886; -.
DR GlyGen; P03886; 1 site, 1 O-linked glycan (1 site).
DR BioMuta; MT-ND1; -.
DR DMDM; 128641; -.
DR EPD; P03886; -.
DR jPOST; P03886; -.
DR MassIVE; P03886; -.
DR PaxDb; P03886; -.
DR PeptideAtlas; P03886; -.
DR PRIDE; P03886; -.
DR ProteomicsDB; 51611; -.
DR Antibodypedia; 35355; 237 antibodies from 27 providers.
DR DNASU; 4535; -.
DR Ensembl; ENST00000361390.2; ENSP00000354687.2; ENSG00000198888.2.
DR GeneID; 4535; -.
DR KEGG; hsa:4535; -.
DR CTD; 4535; -.
DR DisGeNET; 4535; -.
DR GeneCards; MT-ND1; -.
DR GeneReviews; MT-ND1; -.
DR HGNC; HGNC:7455; MT-ND1.
DR HPA; ENSG00000198888; Tissue enhanced (brain, heart muscle).
DR MalaCards; MT-ND1; -.
DR MIM; 125853; phenotype.
DR MIM; 502500; phenotype.
DR MIM; 516000; gene.
DR MIM; 535000; phenotype.
DR MIM; 540000; phenotype.
DR neXtProt; NX_P03886; -.
DR NIAGADS; ENSG00000198888; -.
DR OpenTargets; ENSG00000198888; -.
DR Orphanet; 2609; Isolated complex I deficiency.
DR Orphanet; 104; Leber hereditary optic neuropathy.
DR Orphanet; 550; MELAS.
DR Orphanet; 255210; Mitochondrial DNA-associated Leigh syndrome.
DR PharmGKB; PA31259; -.
DR VEuPathDB; HostDB:ENSG00000198888; -.
DR eggNOG; KOG4770; Eukaryota.
DR GeneTree; ENSGT00390000006621; -.
DR HOGENOM; CLU_015134_0_1_1; -.
DR InParanoid; P03886; -.
DR OMA; WSGWASN; -.
DR OrthoDB; 1214989at2759; -.
DR PhylomeDB; P03886; -.
DR TreeFam; TF352957; -.
DR BioCyc; MetaCyc:HS00030-MON; -.
DR PathwayCommons; P03886; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; P03886; -.
DR SIGNOR; P03886; -.
DR BioGRID-ORCS; 4535; 0 hits in 2 CRISPR screens.
DR ChiTaRS; ND1; human.
DR GeneWiki; MT-ND1; -.
DR GenomeRNAi; 4535; -.
DR Pharos; P03886; Tclin.
DR PRO; PR:P03886; -.
DR Proteomes; UP000005640; Mitochondrion.
DR RNAct; P03886; protein.
DR Bgee; ENSG00000198888; Expressed in subcutaneous adipose tissue and 94 other tissues.
DR ExpressionAtlas; P03886; baseline and differential.
DR Genevisible; P03886; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal.
DR GO; GO:0031966; C:mitochondrial membrane; IDA:UniProtKB.
DR GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; IMP:UniProtKB.
DR GO; GO:0009060; P:aerobic respiration; IBA:GO_Central.
DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IMP:UniProtKB.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR GO; GO:0042776; P:proton motive force-driven mitochondrial ATP synthesis; IC:ComplexPortal.
DR HAMAP; MF_01350; NDH1_NuoH; 1.
DR InterPro; IPR001694; NADH_UbQ_OxRdtase_su1/FPO.
DR InterPro; IPR018086; NADH_UbQ_OxRdtase_su1_CS.
DR PANTHER; PTHR11432; PTHR11432; 1.
DR Pfam; PF00146; NADHdh; 1.
DR PROSITE; PS00667; COMPLEX1_ND1_1; 1.
DR PROSITE; PS00668; COMPLEX1_ND1_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alzheimer disease; Amyloidosis; Diabetes mellitus;
KW Disease variant; Electron transport; Epilepsy;
KW Leber hereditary optic neuropathy; MELAS syndrome; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; NAD; Neurodegeneration;
KW Primary mitochondrial disease; Reference proteome; Respiratory chain;
KW Translocase; Transmembrane; Transmembrane helix; Transport; Ubiquinone.
FT CHAIN 1..318
FT /note="NADH-ubiquinone oxidoreductase chain 1"
FT /id="PRO_0000117414"
FT TRANSMEM 2..22
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 146..166
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 171..191
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 231..251
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 253..273
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 294..314
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 4
FT /note="A -> T (might contribute to non-insulin dependent
FT diabetes mellitus susceptibility in some populations;
FT dbSNP:rs2853516)"
FT /evidence="ECO:0000269|PubMed:7733935"
FT /id="VAR_004747"
FT VARIANT 30
FT /note="Y -> C (in a patient with hypertrophic
FT cardiomyopathy and profound hearing loss;
FT dbSNP:rs1556422722)"
FT /evidence="ECO:0000269|PubMed:21144833"
FT /id="VAR_065195"
FT VARIANT 30
FT /note="Y -> H (in LHON; secondary mutation; unknown
FT pathological significance; dbSNP:rs41460449)"
FT /evidence="ECO:0000269|PubMed:1417830"
FT /id="VAR_004748"
FT VARIANT 31
FT /note="M -> T (in MELAS; dbSNP:rs201212638)"
FT /evidence="ECO:0000269|PubMed:8723687"
FT /id="VAR_004749"
FT VARIANT 31
FT /note="M -> V (in AD-MT; may be associated with disease
FT susceptibility; dbSNP:rs199476120)"
FT /evidence="ECO:0000269|PubMed:8104867"
FT /id="VAR_004750"
FT VARIANT 52
FT /note="A -> T (in LHON; primary mutation; medium severity;
FT some vision recovery; 80% reduction in rotenone-sensitive
FT and ubiquinone-dependent electron transfer activity,
FT whereas the proximal NADH dehydrogenase activity of the
FT complex is unaffected; dbSNP:rs199476118)"
FT /evidence="ECO:0000269|PubMed:1674640,
FT ECO:0000269|PubMed:1928099, ECO:0000269|PubMed:1959619"
FT /id="VAR_004751"
FT VARIANT 87
FT /note="T -> A (in dbSNP:rs2854133)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011346"
FT VARIANT 168
FT /note="T -> A (in dbSNP:rs2854135)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011347"
FT VARIANT 205
FT /note="S -> P"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008587"
FT VARIANT 214
FT /note="E -> K (found in a patient with epileptic
FT encephalopathy evolving to Lennox-Gastaut syndrome; unknown
FT pathological significance; dbSNP:rs199476123)"
FT /evidence="ECO:0000269|PubMed:24105702"
FT /id="VAR_073352"
FT VARIANT 255
FT /note="Y -> C"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008588"
FT VARIANT 277
FT /note="Y -> C (in dbSNP:rs199476121)"
FT /evidence="ECO:0000269|PubMed:2018041"
FT /id="VAR_004752"
FT VARIANT 285
FT /note="L -> P (in LHON; secondary mutation; unknown
FT pathological significance; dbSNP:rs199476119)"
FT /evidence="ECO:0000269|PubMed:2018041"
FT /id="VAR_004753"
FT VARIANT 288
FT /note="L -> P"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008589"
FT VARIANT 304
FT /note="Y -> H (in LHON; secondary mutation; unknown
FT pathological significance; dbSNP:rs1599988)"
FT /evidence="ECO:0000269|PubMed:1900003"
FT /id="VAR_004754"
FT CONFLICT 287
FT /note="H -> R (in Ref. 7; ACI31490)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 318 AA; 35661 MW; 2F771ACB95002591 CRC64;
MPMANLLLLI VPILIAMAFL MLTERKILGY MQLRKGPNVV GPYGLLQPFA DAMKLFTKEP
LKPATSTITL YITAPTLALT IALLLWTPLP MPNPLVNLNL GLLFILATSS LAVYSILWSG
WASNSNYALI GALRAVAQTI SYEVTLAIIL LSTLLMSGSF NLSTLITTQE HLWLLLPSWP
LAMMWFISTL AETNRTPFDL AEGESELVSG FNIEYAAGPF ALFFMAEYTN IIMMNTLTTT
IFLGTTYDAL SPELYTTYFV TKTLLLTSLF LWIRTAYPRF RYDQLMHLLW KNFLPLTLAL
LMWYVSMPIT ISSIPPQT
