NU3M_HUMAN
ID NU3M_HUMAN Reviewed; 115 AA.
AC P03897;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 21-JUL-1986, sequence version 1.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=NADH-ubiquinone oxidoreductase chain 3 {ECO:0000305};
DE EC=7.1.1.2 {ECO:0000269|PubMed:25118196};
DE AltName: Full=NADH dehydrogenase subunit 3;
GN Name=MT-ND3 {ECO:0000312|HGNC:HGNC:7458}; Synonyms=MTND3, NADH3, ND3;
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].
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 [3]
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 [4]
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 [5]
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 [6]
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 [7]
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 [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [9]
RP INTERACTION WITH TMEM186.
RX PubMed=32320651; DOI=10.1016/j.celrep.2020.107541;
RA Formosa L.E., Muellner-Wong L., Reljic B., Sharpe A.J., Jackson T.D.,
RA Beilharz T.H., Stojanovski D., Lazarou M., Stroud D.A., Ryan M.T.;
RT "Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly
RT Complex Factors in the Biogenesis of Complex I.";
RL Cell Rep. 31:107541-107541(2020).
RN [10]
RP INTERACTION WITH TMEM242.
RX PubMed=33753518; DOI=10.1073/pnas.2100558118;
RA Carroll J., He J., Ding S., Fearnley I.M., Walker J.E.;
RT "TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase
RT and interact with assembly factors for complex I.";
RL Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021).
RN [11]
RP VARIANTS ASP-10 AND ALA-114.
RX PubMed=6343397; DOI=10.1016/s0021-9258(20)81969-3;
RA Oliver N.A., Greenberg B.D., Wallace D.C.;
RT "Assignment of a polymorphic polypeptide to the human mitochondrial DNA
RT unidentified reading frame 3 gene by a new peptide mapping strategy.";
RL J. Biol. Chem. 258:5834-5839(1983).
RN [12]
RP VARIANTS VAL-53 AND ALA-114.
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 [13]
RP VARIANT MC1DM1 PRO-45.
RX PubMed=11456298; DOI=10.1002/ana.1084;
RA Taylor R.W., Singh-Kler R., Hayes C.M., Smith P.E., Turnbull D.M.;
RT "Progressive mitochondrial disease resulting from a novel missense mutation
RT in the mitochondrial DNA ND3 gene.";
RL Ann. Neurol. 50:104-107(2001).
RN [14]
RP VARIANT MC1DM1 PRO-34.
RX PubMed=14705112; DOI=10.1002/ana.10787;
RA McFarland R., Kirby D.M., Fowler K.J., Ohtake A., Ryan M.T., Amor D.J.,
RA Fletcher J.M., Dixon J.W., Collins F.A., Turnbull D.M., Taylor R.W.,
RA Thorburn D.R.;
RT "De novo mutations in the mitochondrial ND3 gene as a cause of infantile
RT mitochondrial encephalopathy and complex I deficiency.";
RL Ann. Neurol. 55:58-64(2004).
RN [15]
RP VARIANT LS THR-47.
RX PubMed=17152068; DOI=10.1002/ajmg.a.31565;
RA Sarzi E., Brown M.D., Lebon S., Chretien D., Munnich A., Rotig A.,
RA Procaccio V.;
RT "A novel recurrent mitochondrial DNA mutation in ND3 gene is associated
RT with isolated complex I deficiency causing Leigh syndrome and dystonia.";
RL Am. J. Med. Genet. A 143:33-41(2007).
RN [16]
RP VARIANTS MC1DM1 PRO-34; PRO-45 AND THR-47.
RX PubMed=20818383; DOI=10.1038/ng.659;
RA Calvo S.E., Tucker E.J., Compton A.G., Kirby D.M., Crawford G., Burtt N.P.,
RA Rivas M., Guiducci C., Bruno D.L., Goldberger O.A., Redman M.C.,
RA Wiltshire E., Wilson C.J., Altshuler D., Gabriel S.B., Daly M.J.,
RA Thorburn D.R., Mootha V.K.;
RT "High-throughput, pooled sequencing identifies mutations in NUBPL and
RT FOXRED1 in human complex I deficiency.";
RL Nat. Genet. 42:851-858(2010).
RN [17]
RP VARIANT LS LYS-26, CHARACTERIZATION OF VARIANT LS LYS-26, FUNCTION, AND
RP CATALYTIC ACTIVITY.
RX PubMed=25118196; DOI=10.1371/journal.pone.0104879;
RA Miller D.K., Menezes M.J., Simons C., Riley L.G., Cooper S.T.,
RA Grimmond S.M., Thorburn D.R., Christodoulou J., Taft R.J.;
RT "Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a
RT Leigh syndrome patient.";
RL PLoS ONE 9:e104879-e104879(2014).
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:25118196). Essential for the catalytic activity of
CC complex I (PubMed:25118196). {ECO:0000269|PubMed:25118196}.
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:25118196};
CC -!- SUBUNIT: Core subunit of respiratory chain NADH dehydrogenase (Complex
CC I) which is composed of 45 different subunits (PubMed:12611891).
CC Interacts with TMEM186 (PubMed:32320651). Interacts with TMEM242
CC (PubMed:33753518). {ECO:0000269|PubMed:12611891,
CC ECO:0000269|PubMed:32320651, ECO:0000269|PubMed:33753518}.
CC -!- INTERACTION:
CC P03897; PRO_0000000092 [P05067]: APP; NbExp=2; IntAct=EBI-1246249, EBI-821758;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:P03898}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive
CC neurodegenerative disorder characterized by the presence of focal,
CC bilateral lesions in one or more areas of the central nervous system
CC including the brainstem, thalamus, basal ganglia, cerebellum and spinal
CC cord. Clinical features depend on which areas of the central nervous
CC system are involved and include subacute onset of psychomotor
CC retardation, hypotonia, ataxia, weakness, vision loss, eye movement
CC abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:17152068,
CC ECO:0000269|PubMed:25118196}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Mitochondrial complex I deficiency, mitochondrial type 1
CC (MC1DM1) [MIM:500014]: A form of mitochondrial complex I deficiency,
CC the most common biochemical signature of mitochondrial disorders, a
CC group of highly heterogeneous conditions characterized by defective
CC oxidative phosphorylation, which collectively affects 1 in 5-10000 live
CC births. Clinical disorders have variable severity, ranging from lethal
CC neonatal disease to adult-onset neurodegenerative disorders. Phenotypes
CC include macrocephaly with progressive leukodystrophy, non-specific
CC encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh
CC syndrome, Leber hereditary optic neuropathy, and some forms of
CC Parkinson disease. {ECO:0000269|PubMed:11456298,
CC ECO:0000269|PubMed:14705112, ECO:0000269|PubMed:20818383}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the complex I subunit 3 family. {ECO:0000305}.
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DR EMBL; J01415; AAB58950.1; -; Genomic_DNA.
DR EMBL; V00662; CAA24033.1; -; Genomic_DNA.
DR EMBL; AY339402; AAP89043.1; -; Genomic_DNA.
DR EMBL; AY339403; AAP89056.1; -; Genomic_DNA.
DR EMBL; AY339404; AAP89069.1; -; Genomic_DNA.
DR EMBL; AY339405; AAP89082.1; -; Genomic_DNA.
DR EMBL; AY339406; AAP89095.1; -; Genomic_DNA.
DR EMBL; AY339407; AAP89108.1; -; Genomic_DNA.
DR EMBL; AY339408; AAP89121.1; -; Genomic_DNA.
DR EMBL; AY339409; AAP89134.1; -; Genomic_DNA.
DR EMBL; AY339410; AAP89147.1; -; Genomic_DNA.
DR EMBL; AY339411; AAP89160.1; -; Genomic_DNA.
DR EMBL; AY339412; AAP89173.1; -; Genomic_DNA.
DR EMBL; AY339413; AAP89186.1; -; Genomic_DNA.
DR EMBL; AY339414; AAP89199.1; -; Genomic_DNA.
DR EMBL; AY339415; AAP89212.1; -; Genomic_DNA.
DR EMBL; AY339416; AAP89225.1; -; Genomic_DNA.
DR EMBL; AY339417; AAP89238.1; -; Genomic_DNA.
DR EMBL; AY339418; AAP89251.1; -; Genomic_DNA.
DR EMBL; AY339419; AAP89264.1; -; Genomic_DNA.
DR EMBL; AY339420; AAP89277.1; -; Genomic_DNA.
DR EMBL; AY339421; AAP89290.1; -; Genomic_DNA.
DR EMBL; AY339422; AAP89303.1; -; Genomic_DNA.
DR EMBL; AY339423; AAP89316.1; -; Genomic_DNA.
DR EMBL; AY339424; AAP89329.1; -; Genomic_DNA.
DR EMBL; AY339425; AAP89342.1; -; Genomic_DNA.
DR EMBL; AY339426; AAP89355.1; -; Genomic_DNA.
DR EMBL; AY339427; AAP89368.1; -; Genomic_DNA.
DR EMBL; AY339428; AAP89381.1; -; Genomic_DNA.
DR EMBL; AY339429; AAP89394.1; -; Genomic_DNA.
DR EMBL; AY339430; AAP89407.1; -; Genomic_DNA.
DR EMBL; AY339431; AAP89420.1; -; Genomic_DNA.
DR EMBL; AY339432; AAP89433.1; -; Genomic_DNA.
DR EMBL; AY339433; AAP89446.1; -; Genomic_DNA.
DR EMBL; AY339434; AAP89459.1; -; Genomic_DNA.
DR EMBL; AY339435; AAP89472.1; -; Genomic_DNA.
DR EMBL; AY339436; AAP89485.1; -; Genomic_DNA.
DR EMBL; AY339437; AAP89498.1; -; Genomic_DNA.
DR EMBL; AY339438; AAP89511.1; -; Genomic_DNA.
DR EMBL; AY339439; AAP89524.1; -; Genomic_DNA.
DR EMBL; AY339440; AAP89537.1; -; Genomic_DNA.
DR EMBL; AY339441; AAP89550.1; -; Genomic_DNA.
DR EMBL; AY339442; AAP89563.1; -; Genomic_DNA.
DR EMBL; AY339443; AAP89576.1; -; Genomic_DNA.
DR EMBL; AY339444; AAP89589.1; -; Genomic_DNA.
DR EMBL; AY339445; AAP89602.1; -; Genomic_DNA.
DR EMBL; AY339446; AAP89615.1; -; Genomic_DNA.
DR EMBL; AY339447; AAP89628.1; -; Genomic_DNA.
DR EMBL; AY339448; AAP89641.1; -; Genomic_DNA.
DR EMBL; AY339449; AAP89654.1; -; Genomic_DNA.
DR EMBL; AY339450; AAP89667.1; -; Genomic_DNA.
DR EMBL; AY339451; AAP89680.1; -; Genomic_DNA.
DR EMBL; AY339452; AAP89693.1; -; Genomic_DNA.
DR EMBL; AY339453; AAP89706.1; -; Genomic_DNA.
DR EMBL; AY339454; AAP89719.1; -; Genomic_DNA.
DR EMBL; AY339455; AAP89732.1; -; Genomic_DNA.
DR EMBL; AY339456; AAP89745.1; -; Genomic_DNA.
DR EMBL; AY339457; AAP89758.1; -; Genomic_DNA.
DR EMBL; AY339458; AAP89771.1; -; Genomic_DNA.
DR EMBL; AY339459; AAP89784.1; -; Genomic_DNA.
DR EMBL; AY339460; AAP89797.1; -; Genomic_DNA.
DR EMBL; AY339461; AAP89810.1; -; Genomic_DNA.
DR EMBL; AY339462; AAP89823.1; -; Genomic_DNA.
DR EMBL; AY339463; AAP89836.1; -; Genomic_DNA.
DR EMBL; AY339464; AAP89849.1; -; Genomic_DNA.
DR EMBL; AY339465; AAP89862.1; -; Genomic_DNA.
DR EMBL; AY339475; AAP89992.1; -; Genomic_DNA.
DR EMBL; AY339476; AAP90005.1; -; Genomic_DNA.
DR EMBL; AY339477; AAP90018.1; -; Genomic_DNA.
DR EMBL; AY339478; AAP90031.1; -; Genomic_DNA.
DR EMBL; AY339479; AAP90044.1; -; Genomic_DNA.
DR EMBL; AY339480; AAP90057.1; -; Genomic_DNA.
DR EMBL; AY339481; AAP90070.1; -; Genomic_DNA.
DR EMBL; AY339482; AAP90083.1; -; Genomic_DNA.
DR EMBL; AY339483; AAP90096.1; -; Genomic_DNA.
DR EMBL; AY339484; AAP90109.1; -; Genomic_DNA.
DR EMBL; AY339485; AAP90122.1; -; Genomic_DNA.
DR EMBL; AY339486; AAP90135.1; -; Genomic_DNA.
DR EMBL; AY339487; AAP90148.1; -; Genomic_DNA.
DR EMBL; AY339488; AAP90161.1; -; Genomic_DNA.
DR EMBL; AY339489; AAP90174.1; -; Genomic_DNA.
DR EMBL; AY339490; AAP90187.1; -; Genomic_DNA.
DR EMBL; AY339491; AAP90200.1; -; Genomic_DNA.
DR EMBL; AY339492; AAP90213.1; -; Genomic_DNA.
DR EMBL; AY339493; AAP90226.1; -; Genomic_DNA.
DR EMBL; AY339494; AAP90239.1; -; Genomic_DNA.
DR EMBL; AY339495; AAP90252.1; -; Genomic_DNA.
DR EMBL; AY339496; AAP90265.1; -; Genomic_DNA.
DR EMBL; AY339510; AAP90447.1; -; Genomic_DNA.
DR EMBL; AY339511; AAP90460.1; -; Genomic_DNA.
DR EMBL; AY339512; AAP90473.1; -; Genomic_DNA.
DR EMBL; AY339513; AAP90486.1; -; Genomic_DNA.
DR EMBL; AY339523; AAP90616.1; -; Genomic_DNA.
DR EMBL; AY339524; AAP90629.1; -; Genomic_DNA.
DR EMBL; AY339525; AAP90642.1; -; Genomic_DNA.
DR EMBL; AY339526; AAP90655.1; -; Genomic_DNA.
DR EMBL; AY339527; AAP90668.1; -; Genomic_DNA.
DR EMBL; AY339528; AAP90681.1; -; Genomic_DNA.
DR EMBL; AY339529; AAP90694.1; -; Genomic_DNA.
DR EMBL; AY339530; AAP90707.1; -; Genomic_DNA.
DR EMBL; AY339531; AAP90720.1; -; Genomic_DNA.
DR EMBL; AY339532; AAP90733.1; -; Genomic_DNA.
DR EMBL; AY339533; AAP90746.1; -; Genomic_DNA.
DR EMBL; AY339534; AAP90759.1; -; Genomic_DNA.
DR EMBL; AY339535; AAP90772.1; -; Genomic_DNA.
DR EMBL; AY339536; AAP90785.1; -; Genomic_DNA.
DR EMBL; AY339537; AAP90798.1; -; Genomic_DNA.
DR EMBL; AY339538; AAP90811.1; -; Genomic_DNA.
DR EMBL; AY339539; AAP90824.1; -; Genomic_DNA.
DR EMBL; AY339540; AAP90837.1; -; Genomic_DNA.
DR EMBL; AY339541; AAP90850.1; -; Genomic_DNA.
DR EMBL; AY339542; AAP90863.1; -; Genomic_DNA.
DR EMBL; AY339543; AAP90876.1; -; Genomic_DNA.
DR EMBL; AY339544; AAP90889.1; -; Genomic_DNA.
DR EMBL; AY339545; AAP90902.1; -; Genomic_DNA.
DR EMBL; AY339546; AAP90915.1; -; Genomic_DNA.
DR EMBL; AY339549; AAP90954.1; -; Genomic_DNA.
DR EMBL; AY339550; AAP90967.1; -; Genomic_DNA.
DR EMBL; AY339551; AAP90980.1; -; Genomic_DNA.
DR EMBL; AY339552; AAP90993.1; -; Genomic_DNA.
DR EMBL; AY339553; AAP91006.1; -; Genomic_DNA.
DR EMBL; AY339566; AAP91175.1; -; Genomic_DNA.
DR EMBL; AY339567; AAP91188.1; -; Genomic_DNA.
DR EMBL; AY339568; AAP91201.1; -; Genomic_DNA.
DR EMBL; AY339569; AAP91214.1; -; Genomic_DNA.
DR EMBL; AY339570; AAP91227.1; -; Genomic_DNA.
DR EMBL; AY339571; AAP91240.1; -; Genomic_DNA.
DR EMBL; AY339572; AAP91253.1; -; Genomic_DNA.
DR EMBL; AY339573; AAP91266.1; -; Genomic_DNA.
DR EMBL; AY339574; AAP91279.1; -; Genomic_DNA.
DR EMBL; AF346963; AAK17214.1; -; Genomic_DNA.
DR EMBL; AF346964; AAK17227.2; -; Genomic_DNA.
DR EMBL; AF346971; AAK17318.2; -; Genomic_DNA.
DR EMBL; AF346973; AAK17344.2; -; Genomic_DNA.
DR EMBL; AF346974; AAK17357.2; -; Genomic_DNA.
DR EMBL; AF346975; AAK17370.2; -; Genomic_DNA.
DR EMBL; AF346978; AAK17409.1; -; Genomic_DNA.
DR EMBL; AF346981; AAK17448.2; -; Genomic_DNA.
DR EMBL; AF346982; AAK17461.1; -; Genomic_DNA.
DR EMBL; AF346988; AAK17539.1; -; Genomic_DNA.
DR EMBL; AF346993; AAK17604.2; -; Genomic_DNA.
DR EMBL; AF347001; AAK17708.2; -; Genomic_DNA.
DR EMBL; AF347002; AAK17721.2; -; Genomic_DNA.
DR EMBL; AF347004; AAK17747.2; -; Genomic_DNA.
DR EMBL; AF347005; AAK17760.2; -; Genomic_DNA.
DR EMBL; AF347006; AAK17773.2; -; Genomic_DNA.
DR EMBL; AF347007; AAK17786.2; -; Genomic_DNA.
DR EMBL; AF347011; AAK17838.2; -; Genomic_DNA.
DR EMBL; AY289051; AAP47887.1; -; Genomic_DNA.
DR EMBL; AY289052; AAP47900.1; -; Genomic_DNA.
DR EMBL; AY289053; AAP47913.1; -; Genomic_DNA.
DR EMBL; AY289054; AAP47926.1; -; Genomic_DNA.
DR EMBL; AY289055; AAP47939.1; -; Genomic_DNA.
DR EMBL; AY289056; AAP47952.1; -; Genomic_DNA.
DR EMBL; AY289058; AAP47978.1; -; Genomic_DNA.
DR EMBL; AY289059; AAP47991.1; -; Genomic_DNA.
DR EMBL; AY289060; AAP48004.1; -; Genomic_DNA.
DR EMBL; AY289061; AAP48017.1; -; Genomic_DNA.
DR EMBL; AY289062; AAP48030.1; -; Genomic_DNA.
DR EMBL; AY289063; AAP48043.1; -; Genomic_DNA.
DR EMBL; AY289065; AAP48069.1; -; Genomic_DNA.
DR EMBL; AY289068; AAP48108.1; -; Genomic_DNA.
DR EMBL; AY289069; AAP48121.1; -; Genomic_DNA.
DR EMBL; AY289073; AAP48173.1; -; Genomic_DNA.
DR EMBL; AY289076; AAP48212.1; -; Genomic_DNA.
DR EMBL; AY289077; AAP48225.1; -; Genomic_DNA.
DR EMBL; AY289080; AAP48264.1; -; Genomic_DNA.
DR EMBL; AY289083; AAP48303.1; -; Genomic_DNA.
DR EMBL; AY289084; AAP48316.1; -; Genomic_DNA.
DR EMBL; AY289086; AAP48342.1; -; Genomic_DNA.
DR EMBL; AY289087; AAP48355.1; -; Genomic_DNA.
DR EMBL; AY289088; AAP48368.1; -; Genomic_DNA.
DR EMBL; AY289091; AAP48407.1; -; Genomic_DNA.
DR EMBL; AY289092; AAP48420.1; -; Genomic_DNA.
DR EMBL; AY289093; AAP48432.1; -; Genomic_DNA.
DR EMBL; AY289094; AAP48445.1; -; Genomic_DNA.
DR EMBL; AY289095; AAP48458.1; -; Genomic_DNA.
DR EMBL; AY289096; AAP48471.1; -; Genomic_DNA.
DR EMBL; AY289099; AAP48510.1; -; Genomic_DNA.
DR EMBL; AY289100; AAP48523.1; -; Genomic_DNA.
DR EMBL; AY289101; AAP48536.1; -; Genomic_DNA.
DR EMBL; AY289102; AAP48549.1; -; Genomic_DNA.
DR EMBL; AY495090; AAR92503.1; -; Genomic_DNA.
DR EMBL; AY495091; AAR92516.1; -; Genomic_DNA.
DR EMBL; AY495092; AAR92529.1; -; Genomic_DNA.
DR EMBL; AY495093; AAR92542.1; -; Genomic_DNA.
DR EMBL; AY495094; AAR92555.1; -; Genomic_DNA.
DR EMBL; AY495095; AAR92568.1; -; Genomic_DNA.
DR EMBL; AY495096; AAR92581.1; -; Genomic_DNA.
DR EMBL; AY495097; AAR92594.1; -; Genomic_DNA.
DR EMBL; AY495098; AAR92607.1; -; Genomic_DNA.
DR EMBL; AY495099; AAR92620.1; -; Genomic_DNA.
DR EMBL; AY495100; AAR92633.1; -; Genomic_DNA.
DR EMBL; AY495101; AAR92646.1; -; Genomic_DNA.
DR EMBL; AY495102; AAR92659.1; -; Genomic_DNA.
DR EMBL; AY495103; AAR92672.1; -; Genomic_DNA.
DR EMBL; AY495104; AAR92685.1; -; Genomic_DNA.
DR EMBL; AY495105; AAR92698.1; -; Genomic_DNA.
DR EMBL; AY495106; AAR92711.1; -; Genomic_DNA.
DR EMBL; AY495107; AAR92724.1; -; Genomic_DNA.
DR EMBL; AY495108; AAR92737.1; -; Genomic_DNA.
DR EMBL; AY495109; AAR92750.1; -; Genomic_DNA.
DR EMBL; AY495110; AAR92763.1; -; Genomic_DNA.
DR EMBL; AY495111; AAR92776.1; -; Genomic_DNA.
DR EMBL; AY495112; AAR92789.1; -; Genomic_DNA.
DR EMBL; AY495113; AAR92802.1; -; Genomic_DNA.
DR EMBL; AY495114; AAR92815.1; -; Genomic_DNA.
DR EMBL; AY495115; AAR92828.1; -; Genomic_DNA.
DR EMBL; AY495116; AAR92841.1; -; Genomic_DNA.
DR EMBL; AY495117; AAR92854.1; -; Genomic_DNA.
DR EMBL; AY495118; AAR92867.1; -; Genomic_DNA.
DR EMBL; AY495119; AAR92880.1; -; Genomic_DNA.
DR EMBL; AY495120; AAR92893.1; -; Genomic_DNA.
DR EMBL; AY495121; AAR92906.1; -; Genomic_DNA.
DR EMBL; AY495122; AAR92919.1; -; Genomic_DNA.
DR EMBL; AY495123; AAR92932.1; -; Genomic_DNA.
DR EMBL; AY495124; AAR92945.1; -; Genomic_DNA.
DR EMBL; AY495125; AAR92958.1; -; Genomic_DNA.
DR EMBL; AY495126; AAR92971.1; -; Genomic_DNA.
DR EMBL; AY495127; AAR92984.1; -; Genomic_DNA.
DR EMBL; AY495128; AAR92997.1; -; Genomic_DNA.
DR EMBL; AY495129; AAR93010.1; -; Genomic_DNA.
DR EMBL; AY495130; AAR93023.1; -; Genomic_DNA.
DR EMBL; AY495131; AAR93036.1; -; Genomic_DNA.
DR EMBL; AY495132; AAR93049.1; -; Genomic_DNA.
DR EMBL; AY495133; AAR93062.1; -; Genomic_DNA.
DR EMBL; AY495134; AAR93075.1; -; Genomic_DNA.
DR EMBL; AY495135; AAR93088.1; -; Genomic_DNA.
DR EMBL; AY495136; AAR93101.1; -; Genomic_DNA.
DR EMBL; AY495137; AAR93114.1; -; Genomic_DNA.
DR EMBL; AY495138; AAR93127.1; -; Genomic_DNA.
DR EMBL; AY495139; AAR93140.1; -; Genomic_DNA.
DR EMBL; AY495140; AAR93153.1; -; Genomic_DNA.
DR EMBL; AY495141; AAR93166.1; -; Genomic_DNA.
DR EMBL; AY495142; AAR93179.1; -; Genomic_DNA.
DR EMBL; AY495143; AAR93192.1; -; Genomic_DNA.
DR EMBL; AY495144; AAR93205.1; -; Genomic_DNA.
DR EMBL; AY495145; AAR93218.1; -; Genomic_DNA.
DR EMBL; AY495146; AAR93231.1; -; Genomic_DNA.
DR EMBL; AY495147; AAR93244.1; -; Genomic_DNA.
DR EMBL; AY495148; AAR93257.1; -; Genomic_DNA.
DR EMBL; AY495149; AAR93270.1; -; Genomic_DNA.
DR EMBL; AY495150; AAR93283.1; -; Genomic_DNA.
DR EMBL; AY495151; AAR93296.1; -; Genomic_DNA.
DR EMBL; AY495152; AAR93309.1; -; Genomic_DNA.
DR EMBL; AY495153; AAR93322.1; -; Genomic_DNA.
DR EMBL; AY495154; AAR93335.1; -; Genomic_DNA.
DR EMBL; AY495155; AAR93348.1; -; Genomic_DNA.
DR EMBL; AY495156; AAR93361.1; -; Genomic_DNA.
DR EMBL; AY495157; AAR93374.1; -; Genomic_DNA.
DR EMBL; AY495158; AAR93387.1; -; Genomic_DNA.
DR EMBL; AY495159; AAR93400.1; -; Genomic_DNA.
DR EMBL; AY495160; AAR93413.1; -; Genomic_DNA.
DR EMBL; AY495161; AAR93426.1; -; Genomic_DNA.
DR EMBL; AY495162; AAR93439.1; -; Genomic_DNA.
DR EMBL; AY495163; AAR93452.1; -; Genomic_DNA.
DR EMBL; AY495164; AAR93465.1; -; Genomic_DNA.
DR EMBL; AY495165; AAR93478.1; -; Genomic_DNA.
DR EMBL; AY495166; AAR93491.1; -; Genomic_DNA.
DR EMBL; AY495167; AAR93504.1; -; Genomic_DNA.
DR EMBL; AY495168; AAR93517.1; -; Genomic_DNA.
DR EMBL; AY495169; AAR93530.1; -; Genomic_DNA.
DR EMBL; AY495171; AAR93556.1; -; Genomic_DNA.
DR EMBL; AY495172; AAR93569.1; -; Genomic_DNA.
DR EMBL; AY495173; AAR93582.1; -; Genomic_DNA.
DR EMBL; AY495174; AAR93595.1; -; Genomic_DNA.
DR EMBL; AY495175; AAR93608.1; -; Genomic_DNA.
DR EMBL; AY495176; AAR93621.1; -; Genomic_DNA.
DR EMBL; AY495177; AAR93634.1; -; Genomic_DNA.
DR EMBL; AY495178; AAR93647.1; -; Genomic_DNA.
DR EMBL; AY495179; AAR93660.1; -; Genomic_DNA.
DR EMBL; AY495180; AAR93673.1; -; Genomic_DNA.
DR EMBL; AY495181; AAR93686.1; -; Genomic_DNA.
DR EMBL; AY495182; AAR93699.1; -; Genomic_DNA.
DR EMBL; AY495183; AAR93712.1; -; Genomic_DNA.
DR EMBL; AY495184; AAR93725.1; -; Genomic_DNA.
DR EMBL; AY495185; AAR93738.1; -; Genomic_DNA.
DR EMBL; AY495186; AAR93751.1; -; Genomic_DNA.
DR EMBL; AY495187; AAR93764.1; -; Genomic_DNA.
DR EMBL; AY495188; AAR93777.1; -; Genomic_DNA.
DR EMBL; AY495189; AAR93790.1; -; Genomic_DNA.
DR EMBL; AY495190; AAR93803.1; -; Genomic_DNA.
DR EMBL; AY495191; AAR93816.1; -; Genomic_DNA.
DR EMBL; AY495192; AAR93829.1; -; Genomic_DNA.
DR EMBL; AY495193; AAR93842.1; -; Genomic_DNA.
DR EMBL; AY495194; AAR93855.1; -; Genomic_DNA.
DR EMBL; AY495239; AAR94440.1; -; Genomic_DNA.
DR EMBL; AY495240; AAR94453.1; -; Genomic_DNA.
DR EMBL; AY495241; AAR94466.1; -; Genomic_DNA.
DR EMBL; AY495242; AAR94479.1; -; Genomic_DNA.
DR EMBL; AY495244; AAR94505.1; -; Genomic_DNA.
DR EMBL; AY495246; AAR94531.1; -; Genomic_DNA.
DR EMBL; AY495247; AAR94544.1; -; Genomic_DNA.
DR EMBL; AY495248; AAR94557.1; -; Genomic_DNA.
DR EMBL; AY495249; AAR94570.1; -; Genomic_DNA.
DR EMBL; AY495252; AAR94609.1; -; Genomic_DNA.
DR EMBL; AY495267; AAR94804.1; -; Genomic_DNA.
DR EMBL; AY495268; AAR94817.1; -; Genomic_DNA.
DR EMBL; AY495269; AAR94830.1; -; Genomic_DNA.
DR EMBL; AY495270; AAR94843.1; -; Genomic_DNA.
DR EMBL; AY495271; AAR94856.1; -; Genomic_DNA.
DR EMBL; AY495272; AAR94869.1; -; Genomic_DNA.
DR EMBL; AY495273; AAR94882.1; -; Genomic_DNA.
DR EMBL; AY495274; AAR94895.1; -; Genomic_DNA.
DR EMBL; AY495275; AAR94908.1; -; Genomic_DNA.
DR EMBL; AY495276; AAR94921.1; -; Genomic_DNA.
DR EMBL; AY495277; AAR94934.1; -; Genomic_DNA.
DR EMBL; AY495278; AAR94947.1; -; Genomic_DNA.
DR EMBL; AY495279; AAR94960.1; -; Genomic_DNA.
DR EMBL; AY495280; AAR94973.1; -; Genomic_DNA.
DR EMBL; AY495281; AAR94986.1; -; Genomic_DNA.
DR EMBL; AY495282; AAR94999.1; -; Genomic_DNA.
DR EMBL; AY495283; AAR95012.1; -; Genomic_DNA.
DR EMBL; AY495284; AAR95025.1; -; Genomic_DNA.
DR EMBL; AY495285; AAR95038.1; -; Genomic_DNA.
DR EMBL; AY495286; AAR95051.1; -; Genomic_DNA.
DR EMBL; AY495287; AAR95064.1; -; Genomic_DNA.
DR EMBL; AY495288; AAR95077.1; -; Genomic_DNA.
DR EMBL; AY495289; AAR95090.1; -; Genomic_DNA.
DR EMBL; AY495290; AAR95103.1; -; Genomic_DNA.
DR EMBL; AY495291; AAR95116.1; -; Genomic_DNA.
DR EMBL; AY495292; AAR95129.1; -; Genomic_DNA.
DR EMBL; AY495293; AAR95142.1; -; Genomic_DNA.
DR EMBL; AY495294; AAR95155.1; -; Genomic_DNA.
DR EMBL; AY495295; AAR95168.1; -; Genomic_DNA.
DR EMBL; AY495297; AAR95194.1; -; Genomic_DNA.
DR EMBL; AY495298; AAR95207.1; -; Genomic_DNA.
DR EMBL; AY495299; AAR95220.1; -; Genomic_DNA.
DR EMBL; AY495300; AAR95233.1; -; Genomic_DNA.
DR EMBL; AY495301; AAR95246.1; -; Genomic_DNA.
DR EMBL; AY495302; AAR95259.1; -; Genomic_DNA.
DR EMBL; AY495303; AAR95272.1; -; Genomic_DNA.
DR EMBL; AY495304; AAR95285.1; -; Genomic_DNA.
DR EMBL; AY495305; AAR95298.1; -; Genomic_DNA.
DR EMBL; AY495306; AAR95311.1; -; Genomic_DNA.
DR EMBL; AY495307; AAR95324.1; -; Genomic_DNA.
DR EMBL; AY495308; AAR95337.1; -; Genomic_DNA.
DR EMBL; AY495309; AAR95350.1; -; Genomic_DNA.
DR EMBL; AY495310; AAR95363.1; -; Genomic_DNA.
DR EMBL; AY495311; AAR95376.1; -; Genomic_DNA.
DR EMBL; AY495312; AAR95389.1; -; Genomic_DNA.
DR EMBL; AY495313; AAR95402.1; -; Genomic_DNA.
DR EMBL; AY495314; AAR95415.1; -; Genomic_DNA.
DR EMBL; AY495315; AAR95428.1; -; Genomic_DNA.
DR EMBL; AY495316; AAR95441.1; -; Genomic_DNA.
DR EMBL; AY495317; AAR95454.1; -; Genomic_DNA.
DR EMBL; AY495318; AAR95467.1; -; Genomic_DNA.
DR EMBL; AY495319; AAR95480.1; -; Genomic_DNA.
DR EMBL; AY495320; AAR95493.1; -; Genomic_DNA.
DR EMBL; AY495321; AAR95506.1; -; Genomic_DNA.
DR EMBL; AY495322; AAR95519.1; -; Genomic_DNA.
DR EMBL; AY495323; AAR95532.1; -; Genomic_DNA.
DR EMBL; AY495324; AAR95545.1; -; Genomic_DNA.
DR EMBL; AY495325; AAR95558.1; -; Genomic_DNA.
DR EMBL; AY495326; AAR95571.1; -; Genomic_DNA.
DR EMBL; AY495327; AAR95584.1; -; Genomic_DNA.
DR EMBL; AY495328; AAR95597.1; -; Genomic_DNA.
DR EMBL; AY495329; AAR95610.1; -; Genomic_DNA.
DR EMBL; AY495330; AAR95623.1; -; Genomic_DNA.
DR PIR; A00422; DNHUN3.
DR RefSeq; YP_003024033.1; NC_012920.1.
DR PDB; 5XTC; EM; 3.70 A; j=1-115.
DR PDB; 5XTD; EM; 3.70 A; j=1-115.
DR PDBsum; 5XTC; -.
DR PDBsum; 5XTD; -.
DR AlphaFoldDB; P03897; -.
DR SMR; P03897; -.
DR BioGRID; 110633; 2.
DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I.
DR CORUM; P03897; -.
DR IntAct; P03897; 2.
DR STRING; 9606.ENSP00000355206; -.
DR BindingDB; P03897; -.
DR ChEMBL; CHEMBL2363065; -.
DR DrugBank; DB00157; NADH.
DR DrugCentral; P03897; -.
DR GlyGen; P03897; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P03897; -.
DR PhosphoSitePlus; P03897; -.
DR BioMuta; MT-ND3; -.
DR DMDM; 128710; -.
DR EPD; P03897; -.
DR jPOST; P03897; -.
DR MassIVE; P03897; -.
DR PaxDb; P03897; -.
DR PeptideAtlas; P03897; -.
DR PRIDE; P03897; -.
DR ProteomicsDB; 51613; -.
DR Antibodypedia; 68603; 127 antibodies from 24 providers.
DR DNASU; 4537; -.
DR Ensembl; ENST00000361227.2; ENSP00000355206.2; ENSG00000198840.2.
DR GeneID; 4537; -.
DR KEGG; hsa:4537; -.
DR CTD; 4537; -.
DR DisGeNET; 4537; -.
DR GeneCards; MT-ND3; -.
DR GeneReviews; MT-ND3; -.
DR HGNC; HGNC:7458; MT-ND3.
DR HPA; ENSG00000198840; Tissue enhanced (brain, heart muscle).
DR MalaCards; MT-ND3; -.
DR MIM; 256000; phenotype.
DR MIM; 500014; phenotype.
DR MIM; 516002; gene.
DR neXtProt; NX_P03897; -.
DR OpenTargets; ENSG00000198840; -.
DR Orphanet; 2609; Isolated complex I deficiency.
DR Orphanet; 99718; Leber plus disease.
DR Orphanet; 255210; Mitochondrial DNA-associated Leigh syndrome.
DR VEuPathDB; HostDB:ENSG00000198840; -.
DR eggNOG; KOG4662; Eukaryota.
DR GeneTree; ENSGT00390000011605; -.
DR HOGENOM; CLU_119549_3_1_1; -.
DR InParanoid; P03897; -.
DR OMA; RFPVKYY; -.
DR OrthoDB; 575561at2759; -.
DR PhylomeDB; P03897; -.
DR TreeFam; TF343336; -.
DR BioCyc; MetaCyc:HS00032-MON; -.
DR PathwayCommons; P03897; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; P03897; -.
DR SIGNOR; P03897; -.
DR BioGRID-ORCS; 4537; 0 hits in 2 CRISPR screens.
DR ChiTaRS; ND3; human.
DR GeneWiki; MT-ND3; -.
DR GenomeRNAi; 4537; -.
DR Pharos; P03897; Tclin.
DR PRO; PR:P03897; -.
DR Proteomes; UP000005640; Mitochondrion.
DR RNAct; P03897; protein.
DR Bgee; ENSG00000198840; Expressed in right uterine tube and 93 other tissues.
DR ExpressionAtlas; P03897; baseline and differential.
DR Genevisible; P03897; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal.
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; IC:ComplexPortal.
DR GO; GO:0071385; P:cellular response to glucocorticoid stimulus; IEA:Ensembl.
DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IMP:UniProtKB.
DR GO; GO:0042776; P:proton motive force-driven mitochondrial ATP synthesis; IC:ComplexPortal.
DR GO; GO:0009642; P:response to light intensity; IEA:Ensembl.
DR GO; GO:0006979; P:response to oxidative stress; IEA:Ensembl.
DR Gene3D; 1.20.58.1610; -; 1.
DR InterPro; IPR000440; NADH_UbQ/plastoQ_OxRdtase_su3.
DR InterPro; IPR038430; NDAH_ubi_oxred_su3_sf.
DR PANTHER; PTHR11058; PTHR11058; 1.
DR Pfam; PF00507; Oxidored_q4; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Electron transport; Leigh syndrome;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; NAD;
KW Primary mitochondrial disease; Reference proteome; Respiratory chain;
KW Translocase; Transmembrane; Transmembrane helix; Transport; Ubiquinone.
FT CHAIN 1..115
FT /note="NADH-ubiquinone oxidoreductase chain 3"
FT /id="PRO_0000117752"
FT TRANSMEM 3..23
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 55..75
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 84..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 10
FT /note="N -> D (in dbSNP:rs28358274)"
FT /evidence="ECO:0000269|PubMed:6343397"
FT /id="VAR_008391"
FT VARIANT 26
FT /note="Q -> K (in LS; unknown pathological significance;
FT decrease in enzyme activity; dbSNP:rs587780529)"
FT /evidence="ECO:0000269|PubMed:25118196"
FT /id="VAR_084384"
FT VARIANT 34
FT /note="S -> P (in MC1DM1; dbSNP:rs199476117)"
FT /evidence="ECO:0000269|PubMed:14705112,
FT ECO:0000269|PubMed:20818383"
FT /id="VAR_064564"
FT VARIANT 45
FT /note="S -> P (in MC1DM1; dbSNP:rs267606890)"
FT /evidence="ECO:0000269|PubMed:11456298,
FT ECO:0000269|PubMed:20818383"
FT /id="VAR_035091"
FT VARIANT 47
FT /note="A -> T (in LS and MC1DM1; dbSNP:rs267606891)"
FT /evidence="ECO:0000269|PubMed:17152068,
FT ECO:0000269|PubMed:20818383"
FT /id="VAR_035092"
FT VARIANT 53
FT /note="M -> V"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008598"
FT VARIANT 114
FT /note="T -> A (in dbSNP:rs2853826)"
FT /evidence="ECO:0000269|PubMed:1757091,
FT ECO:0000269|PubMed:6343397"
FT /id="VAR_008392"
SQ SEQUENCE 115 AA; 13186 MW; FA9E0C13B5108EE6 CRC64;
MNFALILMIN TLLALLLMII TFWLPQLNGY MEKSTPYECG FDPMSPARVP FSMKFFLVAI
TFLLFDLEIA LLLPLPWALQ TTNLPLMVMS SLLLIIILAL SLAYEWLQKG LDWTE
