NU5M_HUMAN
ID NU5M_HUMAN Reviewed; 603 AA.
AC P03915; Q34773; Q8WCY3;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 30-MAY-2000, sequence version 2.
DT 03-AUG-2022, entry version 207.
DE RecName: Full=NADH-ubiquinone oxidoreductase chain 5;
DE EC=7.1.1.2 {ECO:0000269|PubMed:15250827};
DE AltName: Full=NADH dehydrogenase subunit 5;
GN Name=MT-ND5; Synonyms=MTND5, NADH5, ND5;
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 SEQUENCE REVISION TO 456.
RA Kogelnik A., Brown M.;
RL Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS PRO-211; VAL-257 AND
RP VAL-314.
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 [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-257.
RX PubMed=11553319; DOI=10.1186/1471-2156-2-13;
RA Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.;
RT "Major genomic mitochondrial lineages delineate early human expansions.";
RL BMC Genet. 2:13-13(2001).
RN [5]
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 [6]
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 [7]
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 [8]
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 [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-79.
RX PubMed=6284948; DOI=10.1007/bf01734101;
RA Brown W.M., Prager E.M., Wang A., Wilson A.C.;
RT "Mitochondrial DNA sequences of primates: tempo and mode of evolution.";
RL J. Mol. Evol. 18:225-239(1982).
RN [10]
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 [11]
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 [12]
RP FUNCTION, AND CATALYTIC ACTIVITY.
RX PubMed=15250827; DOI=10.1042/bj20040256;
RA Bourges I., Ramus C., Mousson de Camaret B., Beugnot R., Remacle C.,
RA Cardol P., Hofhaus G., Issartel J.P.;
RT "Structural organization of mitochondrial human complex I: role of the ND4
RT and ND5 mitochondria-encoded subunits and interaction with prohibitin.";
RL Biochem. J. 383:491-499(2004).
RN [13]
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 [14]
RP VARIANTS SER-17; SER-95; PRO-99; ASP-146; VAL-160; SER-165; SER-304;
RP ALA-331 AND GLY-503.
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 [15]
RP VARIANT LHON THR-458.
RX PubMed=1732158; DOI=10.1093/genetics/130.1.163;
RA Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C.;
RT "Mitochondrial DNA complex I and III mutations associated with Leber's
RT hereditary optic neuropathy.";
RL Genetics 130:163-173(1992).
RN [16]
RP VARIANT LHON THR-458.
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 [17]
RP VARIANT LHON GLU-465.
RX PubMed=8213825;
RA Howell N., Halvorson S., Burns J., McCullough D.A., Poulton J.;
RT "When does bilateral optic atrophy become Leber hereditary optic
RT neuropathy?";
RL Am. J. Hum. Genet. 53:959-963(1993).
RN [18]
RP VARIANT MELAS ASN-393.
RX PubMed=9299505; DOI=10.1006/bbrc.1997.7167;
RA Santorelli F.M., Tanji K., Kulikova R., Shanske S., Vilarinho L.,
RA Hays A.P., DiMauro S.;
RT "Identification of a novel mutation in the mtDNA ND5 gene associated with
RT MELAS.";
RL Biochem. Biophys. Res. Commun. 238:326-328(1997).
RN [19]
RP VARIANT THR-475.
RX PubMed=9461455; DOI=10.1093/nar/26.4.967;
RA Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.;
RT "Automating the identification of DNA variations using quality-based
RT fluorescence re-sequencing: analysis of the human mitochondrial genome.";
RL Nucleic Acids Res. 26:967-973(1998).
RN [20]
RP VARIANT LS LEU-124.
RX PubMed=11938446; DOI=10.1038/sj.ejhg.5200773;
RA Taylor R.W., Morris A.A.M., Hutchinson M., Turnbull D.M.;
RT "Leigh disease associated with a novel mitochondrial DNA ND5 mutation.";
RL Eur. J. Hum. Genet. 10:141-144(2002).
RN [21]
RP VARIANTS MELAS GLY-145 AND LEU-237.
RX PubMed=12509858; DOI=10.1002/ana.10435;
RA Liolitsa D., Rahman S., Benton S., Carr L.J., Hanna M.G.;
RT "Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing
RT mutations?";
RL Ann. Neurol. 53:128-132(2003).
RN [22]
RP VARIANT LS CYS-250.
RX PubMed=12796552; DOI=10.1212/01.wnl.0000066048.72780.69;
RA Crimi M., Galbiati S., Moroni I., Bordoni A., Perini M.P., Lamantea E.,
RA Sciacco M., Zeviani M., Biunno I., Moggio M., Scarlato G., Comi G.P.;
RT "A missense mutation in the mitochondrial ND5 gene associated with a Leigh-
RT MELAS overlap syndrome.";
RL Neurology 60:1857-1861(2003).
RN [23]
RP VARIANT LHON VAL-171.
RX PubMed=16240359; DOI=10.1002/ana.20669;
RA Mayorov V., Biousse V., Newman N.J., Brown M.D.;
RT "The role of the ND5 gene in LHON: characterization of a new, heteroplasmic
RT LHON mutation.";
RL Ann. Neurol. 58:807-811(2005).
RN [24]
RP VARIANT MELAS THR-236.
RX PubMed=15767514; DOI=10.1001/archneur.62.3.473;
RA Naini A.B., Lu J., Kaufmann P., Bernstein R.A., Mancuso M., Bonilla E.,
RA Hirano M., DiMauro S.;
RT "Novel mitochondrial DNA ND5 mutation in a patient with clinical features
RT of MELAS and MERRF.";
RL Arch. Neurol. 62:473-476(2005).
RN [25]
RP VARIANTS MELAS THR-236 AND ASN-393.
RX PubMed=17400793; DOI=10.1136/jmg.2006.045716;
RA Blok M.J., Spruijt L., de Coo I.F.M., Schoonderwoerd K., Hendrickx A.,
RA Smeets H.J.;
RT "Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a
RT frequent cause of oxidative phosphorylation disease.";
RL J. Med. Genet. 44:E74-E74(2007).
RN [26]
RP VARIANTS ALA-253 AND SER-447.
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).
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:15250827). Essential for the catalytic activity and
CC assembly of complex I (PubMed:15250827). {ECO:0000269|PubMed:15250827}.
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:15250827};
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 -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:P03920}; 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:16240359, ECO:0000269|PubMed:1732158,
CC ECO:0000269|PubMed:1900003, ECO:0000269|PubMed:8213825}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
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:11938446,
CC ECO:0000269|PubMed:12796552, ECO:0000269|PubMed:17400793}. 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:12509858, ECO:0000269|PubMed:15767514,
CC ECO:0000269|PubMed:17400793, ECO:0000269|PubMed:9299505}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the complex I subunit 5 family. {ECO:0000305}.
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DR EMBL; J01415; AAB58953.1; -; Genomic_DNA.
DR EMBL; V00662; CAA24036.1; -; Genomic_DNA.
DR EMBL; D38112; BAA07297.1; -; Genomic_DNA.
DR EMBL; AF465942; AAN14557.1; -; Genomic_DNA.
DR EMBL; AY339402; AAP89046.1; -; Genomic_DNA.
DR EMBL; AY339403; AAP89059.1; -; Genomic_DNA.
DR EMBL; AY339404; AAP89072.1; -; Genomic_DNA.
DR EMBL; AY339405; AAP89085.1; -; Genomic_DNA.
DR EMBL; AY339406; AAP89098.1; -; Genomic_DNA.
DR EMBL; AY339407; AAP89111.1; -; Genomic_DNA.
DR EMBL; AY339408; AAP89124.1; -; Genomic_DNA.
DR EMBL; AY339409; AAP89137.1; -; Genomic_DNA.
DR EMBL; AY339410; AAP89150.1; -; Genomic_DNA.
DR EMBL; AY339411; AAP89163.1; -; Genomic_DNA.
DR EMBL; AY339412; AAP89176.1; -; Genomic_DNA.
DR EMBL; AY339413; AAP89189.1; -; Genomic_DNA.
DR EMBL; AY339414; AAP89202.1; -; Genomic_DNA.
DR EMBL; AY339415; AAP89215.1; -; Genomic_DNA.
DR EMBL; AY339416; AAP89228.1; -; Genomic_DNA.
DR EMBL; AY339417; AAP89241.1; -; Genomic_DNA.
DR EMBL; AY339418; AAP89254.1; -; Genomic_DNA.
DR EMBL; AY339419; AAP89267.1; -; Genomic_DNA.
DR EMBL; AY339420; AAP89280.1; -; Genomic_DNA.
DR EMBL; AY339421; AAP89293.1; -; Genomic_DNA.
DR EMBL; AY339422; AAP89306.1; -; Genomic_DNA.
DR EMBL; AY339423; AAP89319.1; -; Genomic_DNA.
DR EMBL; AY339424; AAP89332.1; -; Genomic_DNA.
DR EMBL; AY339425; AAP89345.1; -; Genomic_DNA.
DR EMBL; AY339426; AAP89358.1; -; Genomic_DNA.
DR EMBL; AY339427; AAP89371.1; -; Genomic_DNA.
DR EMBL; AY339428; AAP89384.1; -; Genomic_DNA.
DR EMBL; AY339429; AAP89397.1; -; Genomic_DNA.
DR EMBL; AY339430; AAP89410.1; -; Genomic_DNA.
DR EMBL; AY339431; AAP89423.1; -; Genomic_DNA.
DR EMBL; AY339432; AAP89436.1; -; Genomic_DNA.
DR EMBL; AY339433; AAP89449.1; -; Genomic_DNA.
DR EMBL; AY339434; AAP89462.1; -; Genomic_DNA.
DR EMBL; AY339435; AAP89475.1; -; Genomic_DNA.
DR EMBL; AY339436; AAP89488.1; -; Genomic_DNA.
DR EMBL; AY339437; AAP89501.1; -; Genomic_DNA.
DR EMBL; AY339438; AAP89514.1; -; Genomic_DNA.
DR EMBL; AY339439; AAP89527.1; -; Genomic_DNA.
DR EMBL; AY339440; AAP89540.1; -; Genomic_DNA.
DR EMBL; AY339441; AAP89553.1; -; Genomic_DNA.
DR EMBL; AY339442; AAP89566.1; -; Genomic_DNA.
DR EMBL; AY339443; AAP89579.1; -; Genomic_DNA.
DR EMBL; AY339444; AAP89592.1; -; Genomic_DNA.
DR EMBL; AY339445; AAP89605.1; -; Genomic_DNA.
DR EMBL; AY339446; AAP89618.1; -; Genomic_DNA.
DR EMBL; AY339447; AAP89631.1; -; Genomic_DNA.
DR EMBL; AY339448; AAP89644.1; -; Genomic_DNA.
DR EMBL; AY339449; AAP89657.1; -; Genomic_DNA.
DR EMBL; AY339451; AAP89683.1; -; Genomic_DNA.
DR EMBL; AY339452; AAP89696.1; -; Genomic_DNA.
DR EMBL; AY339453; AAP89709.1; -; Genomic_DNA.
DR EMBL; AY339454; AAP89722.1; -; Genomic_DNA.
DR EMBL; AY339455; AAP89735.1; -; Genomic_DNA.
DR EMBL; AY339456; AAP89748.1; -; Genomic_DNA.
DR EMBL; AY339457; AAP89761.1; -; Genomic_DNA.
DR EMBL; AY339458; AAP89774.1; -; Genomic_DNA.
DR EMBL; AY339459; AAP89787.1; -; Genomic_DNA.
DR EMBL; AY339460; AAP89800.1; -; Genomic_DNA.
DR EMBL; AY339461; AAP89813.1; -; Genomic_DNA.
DR EMBL; AY339462; AAP89826.1; -; Genomic_DNA.
DR EMBL; AY339463; AAP89839.1; -; Genomic_DNA.
DR EMBL; AY339464; AAP89852.1; -; Genomic_DNA.
DR EMBL; AY339465; AAP89865.1; -; Genomic_DNA.
DR EMBL; AY339466; AAP89878.1; -; Genomic_DNA.
DR EMBL; AY339467; AAP89891.1; -; Genomic_DNA.
DR EMBL; AY339468; AAP89904.1; -; Genomic_DNA.
DR EMBL; AY339469; AAP89917.1; -; Genomic_DNA.
DR EMBL; AY339470; AAP89930.1; -; Genomic_DNA.
DR EMBL; AY339471; AAP89943.1; -; Genomic_DNA.
DR EMBL; AY339472; AAP89956.1; -; Genomic_DNA.
DR EMBL; AY339473; AAP89969.1; -; Genomic_DNA.
DR EMBL; AY339474; AAP89982.1; -; Genomic_DNA.
DR EMBL; AY339475; AAP89995.1; -; Genomic_DNA.
DR EMBL; AY339476; AAP90008.1; -; Genomic_DNA.
DR EMBL; AY339477; AAP90021.1; -; Genomic_DNA.
DR EMBL; AY339478; AAP90034.1; -; Genomic_DNA.
DR EMBL; AY339479; AAP90047.1; -; Genomic_DNA.
DR EMBL; AY339480; AAP90060.1; -; Genomic_DNA.
DR EMBL; AY339481; AAP90073.1; -; Genomic_DNA.
DR EMBL; AY339482; AAP90086.1; -; Genomic_DNA.
DR EMBL; AY339483; AAP90099.1; -; Genomic_DNA.
DR EMBL; AY339484; AAP90112.1; -; Genomic_DNA.
DR EMBL; AY339485; AAP90125.1; -; Genomic_DNA.
DR EMBL; AY339486; AAP90138.1; -; Genomic_DNA.
DR EMBL; AY339487; AAP90151.1; -; Genomic_DNA.
DR EMBL; AY339488; AAP90164.1; -; Genomic_DNA.
DR EMBL; AY339489; AAP90177.1; -; Genomic_DNA.
DR EMBL; AY339490; AAP90190.1; -; Genomic_DNA.
DR EMBL; AY339491; AAP90203.1; -; Genomic_DNA.
DR EMBL; AY339492; AAP90216.1; -; Genomic_DNA.
DR EMBL; AY339493; AAP90229.1; -; Genomic_DNA.
DR EMBL; AY339494; AAP90242.1; -; Genomic_DNA.
DR EMBL; AY339495; AAP90255.1; -; Genomic_DNA.
DR EMBL; AY339496; AAP90268.1; -; Genomic_DNA.
DR EMBL; AY339514; AAP90502.1; -; Genomic_DNA.
DR EMBL; AY339515; AAP90515.1; -; Genomic_DNA.
DR EMBL; AY339516; AAP90528.1; -; Genomic_DNA.
DR EMBL; AY339517; AAP90541.1; -; Genomic_DNA.
DR EMBL; AY339518; AAP90554.1; -; Genomic_DNA.
DR EMBL; AY339519; AAP90567.1; -; Genomic_DNA.
DR EMBL; AY339520; AAP90580.1; -; Genomic_DNA.
DR EMBL; AY339521; AAP90593.1; -; Genomic_DNA.
DR EMBL; AY339522; AAP90606.1; -; Genomic_DNA.
DR EMBL; AY339523; AAP90619.1; -; Genomic_DNA.
DR EMBL; AY339528; AAP90684.1; -; Genomic_DNA.
DR EMBL; AY339529; AAP90697.1; -; Genomic_DNA.
DR EMBL; AY339530; AAP90710.1; -; Genomic_DNA.
DR EMBL; AY339531; AAP90723.1; -; Genomic_DNA.
DR EMBL; AY339532; AAP90736.1; -; Genomic_DNA.
DR EMBL; AY339533; AAP90749.1; -; Genomic_DNA.
DR EMBL; AY339534; AAP90762.1; -; Genomic_DNA.
DR EMBL; AY339535; AAP90775.1; -; Genomic_DNA.
DR EMBL; AY339536; AAP90788.1; -; Genomic_DNA.
DR EMBL; AY339537; AAP90801.1; -; Genomic_DNA.
DR EMBL; AY339538; AAP90814.1; -; Genomic_DNA.
DR EMBL; AY339539; AAP90827.1; -; Genomic_DNA.
DR EMBL; AY339540; AAP90840.1; -; Genomic_DNA.
DR EMBL; AY339541; AAP90853.1; -; Genomic_DNA.
DR EMBL; AY339542; AAP90866.1; -; Genomic_DNA.
DR EMBL; AY339543; AAP90879.1; -; Genomic_DNA.
DR EMBL; AY339547; AAP90931.1; -; Genomic_DNA.
DR EMBL; AY339548; AAP90944.1; -; Genomic_DNA.
DR EMBL; AY339549; AAP90957.1; -; Genomic_DNA.
DR EMBL; AY339550; AAP90970.1; -; Genomic_DNA.
DR EMBL; AY339554; AAP91022.1; -; Genomic_DNA.
DR EMBL; AY339555; AAP91035.1; -; Genomic_DNA.
DR EMBL; AY339556; AAP91048.1; -; Genomic_DNA.
DR EMBL; AY339557; AAP91061.1; -; Genomic_DNA.
DR EMBL; AY339558; AAP91074.1; -; Genomic_DNA.
DR EMBL; AY339559; AAP91087.1; -; Genomic_DNA.
DR EMBL; AY339560; AAP91100.1; -; Genomic_DNA.
DR EMBL; AY339563; AAP91139.1; -; Genomic_DNA.
DR EMBL; AY339564; AAP91152.1; -; Genomic_DNA.
DR EMBL; AY339565; AAP91165.1; -; Genomic_DNA.
DR EMBL; AY339566; AAP91178.1; -; Genomic_DNA.
DR EMBL; AY339567; AAP91191.1; -; Genomic_DNA.
DR EMBL; AY339568; AAP91204.1; -; Genomic_DNA.
DR EMBL; AY339569; AAP91217.1; -; Genomic_DNA.
DR EMBL; AY339570; AAP91230.1; -; Genomic_DNA.
DR EMBL; AY339571; AAP91243.1; -; Genomic_DNA.
DR EMBL; AY339572; AAP91256.1; -; Genomic_DNA.
DR EMBL; AY339573; AAP91269.1; -; Genomic_DNA.
DR EMBL; AY339574; AAP91282.1; -; Genomic_DNA.
DR EMBL; AY339575; AAP91295.1; -; Genomic_DNA.
DR EMBL; AY339576; AAP91308.1; -; Genomic_DNA.
DR EMBL; AF346970; AAK17308.1; -; Genomic_DNA.
DR EMBL; AF346971; AAK17321.1; -; Genomic_DNA.
DR EMBL; AF346972; AAK17334.1; -; Genomic_DNA.
DR EMBL; AF346976; AAK17386.1; -; Genomic_DNA.
DR EMBL; AF346977; AAK17399.1; -; Genomic_DNA.
DR EMBL; AF346979; AAK17425.1; -; Genomic_DNA.
DR EMBL; AF346980; AAK17438.1; -; Genomic_DNA.
DR EMBL; AF346981; AAK17451.1; -; Genomic_DNA.
DR EMBL; AF346982; AAK17464.1; -; Genomic_DNA.
DR EMBL; AF346984; AAK17490.1; -; Genomic_DNA.
DR EMBL; AF346988; AAK17542.1; -; Genomic_DNA.
DR EMBL; AF346989; AAK17555.1; -; Genomic_DNA.
DR EMBL; AF346990; AAK17568.1; -; Genomic_DNA.
DR EMBL; AF346991; AAK17581.1; -; Genomic_DNA.
DR EMBL; AF346993; AAK17607.1; -; Genomic_DNA.
DR EMBL; AF346994; AAK17620.1; -; Genomic_DNA.
DR EMBL; AF347000; AAK17698.1; -; Genomic_DNA.
DR EMBL; AF347001; AAK17711.1; -; Genomic_DNA.
DR EMBL; AF347006; AAK17776.1; -; Genomic_DNA.
DR EMBL; AF347007; AAK17789.1; -; Genomic_DNA.
DR EMBL; AF347010; AAK17828.1; -; Genomic_DNA.
DR EMBL; AF347011; AAK17841.1; -; Genomic_DNA.
DR EMBL; AF347012; AAK17854.1; -; Genomic_DNA.
DR EMBL; AF347013; AAK17867.1; -; Genomic_DNA.
DR EMBL; AY289051; AAP47890.1; -; Genomic_DNA.
DR EMBL; AY289053; AAP47916.1; -; Genomic_DNA.
DR EMBL; AY289056; AAP47955.1; -; Genomic_DNA.
DR EMBL; AY289057; AAP47968.1; -; Genomic_DNA.
DR EMBL; AY289058; AAP47981.1; -; Genomic_DNA.
DR EMBL; AY289061; AAP48020.1; -; Genomic_DNA.
DR EMBL; AY289062; AAP48033.1; -; Genomic_DNA.
DR EMBL; AY289064; AAP48059.1; -; Genomic_DNA.
DR EMBL; AY289066; AAP48085.1; -; Genomic_DNA.
DR EMBL; AY289067; AAP48098.1; -; Genomic_DNA.
DR EMBL; AY289068; AAP48111.1; -; Genomic_DNA.
DR EMBL; AY289069; AAP48124.1; -; Genomic_DNA.
DR EMBL; AY289070; AAP48137.1; -; Genomic_DNA.
DR EMBL; AY289072; AAP48163.1; -; Genomic_DNA.
DR EMBL; AY289076; AAP48215.1; -; Genomic_DNA.
DR EMBL; AY289077; AAP48228.1; -; Genomic_DNA.
DR EMBL; AY289080; AAP48267.1; -; Genomic_DNA.
DR EMBL; AY289083; AAP48306.1; -; Genomic_DNA.
DR EMBL; AY289084; AAP48319.1; -; Genomic_DNA.
DR EMBL; AY289088; AAP48371.1; -; Genomic_DNA.
DR EMBL; AY289093; AAP48435.1; -; Genomic_DNA.
DR EMBL; AY289094; AAP48448.1; -; Genomic_DNA.
DR EMBL; AY289097; AAP48487.1; -; Genomic_DNA.
DR EMBL; AY289098; AAP48500.1; -; Genomic_DNA.
DR EMBL; AY289100; AAP48526.1; -; Genomic_DNA.
DR EMBL; AY289101; AAP48539.1; -; Genomic_DNA.
DR EMBL; AY289102; AAP48552.1; -; Genomic_DNA.
DR EMBL; AY495090; AAR92506.1; -; Genomic_DNA.
DR EMBL; AY495091; AAR92519.1; -; Genomic_DNA.
DR EMBL; AY495092; AAR92532.1; -; Genomic_DNA.
DR EMBL; AY495094; AAR92558.1; -; Genomic_DNA.
DR EMBL; AY495095; AAR92571.1; -; Genomic_DNA.
DR EMBL; AY495097; AAR92597.1; -; Genomic_DNA.
DR EMBL; AY495098; AAR92610.1; -; Genomic_DNA.
DR EMBL; AY495099; AAR92623.1; -; Genomic_DNA.
DR EMBL; AY495100; AAR92636.1; -; Genomic_DNA.
DR EMBL; AY495101; AAR92649.1; -; Genomic_DNA.
DR EMBL; AY495102; AAR92662.1; -; Genomic_DNA.
DR EMBL; AY495103; AAR92675.1; -; Genomic_DNA.
DR EMBL; AY495104; AAR92688.1; -; Genomic_DNA.
DR EMBL; AY495105; AAR92701.1; -; Genomic_DNA.
DR EMBL; AY495107; AAR92727.1; -; Genomic_DNA.
DR EMBL; AY495108; AAR92740.1; -; Genomic_DNA.
DR EMBL; AY495109; AAR92753.1; -; Genomic_DNA.
DR EMBL; AY495110; AAR92766.1; -; Genomic_DNA.
DR EMBL; AY495111; AAR92779.1; -; Genomic_DNA.
DR EMBL; AY495112; AAR92792.1; -; Genomic_DNA.
DR EMBL; AY495113; AAR92805.1; -; Genomic_DNA.
DR EMBL; AY495114; AAR92818.1; -; Genomic_DNA.
DR EMBL; AY495115; AAR92831.1; -; Genomic_DNA.
DR EMBL; AY495117; AAR92857.1; -; Genomic_DNA.
DR EMBL; AY495118; AAR92870.1; -; Genomic_DNA.
DR EMBL; AY495119; AAR92883.1; -; Genomic_DNA.
DR EMBL; AY495120; AAR92896.1; -; Genomic_DNA.
DR EMBL; AY495121; AAR92909.1; -; Genomic_DNA.
DR EMBL; AY495122; AAR92922.1; -; Genomic_DNA.
DR EMBL; AY495123; AAR92935.1; -; Genomic_DNA.
DR EMBL; AY495124; AAR92948.1; -; Genomic_DNA.
DR EMBL; AY495125; AAR92961.1; -; Genomic_DNA.
DR EMBL; AY495126; AAR92974.1; -; Genomic_DNA.
DR EMBL; AY495127; AAR92987.1; -; Genomic_DNA.
DR EMBL; AY495128; AAR93000.1; -; Genomic_DNA.
DR EMBL; AY495129; AAR93013.1; -; Genomic_DNA.
DR EMBL; AY495130; AAR93026.1; -; Genomic_DNA.
DR EMBL; AY495131; AAR93039.1; -; Genomic_DNA.
DR EMBL; AY495132; AAR93052.1; -; Genomic_DNA.
DR EMBL; AY495133; AAR93065.1; -; Genomic_DNA.
DR EMBL; AY495134; AAR93078.1; -; Genomic_DNA.
DR EMBL; AY495135; AAR93091.1; -; Genomic_DNA.
DR EMBL; AY495136; AAR93104.1; -; Genomic_DNA.
DR EMBL; AY495137; AAR93117.1; -; Genomic_DNA.
DR EMBL; AY495138; AAR93130.1; -; Genomic_DNA.
DR EMBL; AY495139; AAR93143.1; -; Genomic_DNA.
DR EMBL; AY495140; AAR93156.1; -; Genomic_DNA.
DR EMBL; AY495141; AAR93169.1; -; Genomic_DNA.
DR EMBL; AY495142; AAR93182.1; -; Genomic_DNA.
DR EMBL; AY495143; AAR93195.1; -; Genomic_DNA.
DR EMBL; AY495144; AAR93208.1; -; Genomic_DNA.
DR EMBL; AY495145; AAR93221.1; -; Genomic_DNA.
DR EMBL; AY495146; AAR93234.1; -; Genomic_DNA.
DR EMBL; AY495147; AAR93247.1; -; Genomic_DNA.
DR EMBL; AY495148; AAR93260.1; -; Genomic_DNA.
DR EMBL; AY495149; AAR93273.1; -; Genomic_DNA.
DR EMBL; AY495150; AAR93286.1; -; Genomic_DNA.
DR EMBL; AY495151; AAR93299.1; -; Genomic_DNA.
DR EMBL; AY495152; AAR93312.1; -; Genomic_DNA.
DR EMBL; AY495154; AAR93338.1; -; Genomic_DNA.
DR EMBL; AY495155; AAR93351.1; -; Genomic_DNA.
DR EMBL; AY495156; AAR93364.1; -; Genomic_DNA.
DR EMBL; AY495157; AAR93377.1; -; Genomic_DNA.
DR EMBL; AY495158; AAR93390.1; -; Genomic_DNA.
DR EMBL; AY495159; AAR93403.1; -; Genomic_DNA.
DR EMBL; AY495160; AAR93416.1; -; Genomic_DNA.
DR EMBL; AY495161; AAR93429.1; -; Genomic_DNA.
DR EMBL; AY495162; AAR93442.1; -; Genomic_DNA.
DR EMBL; AY495163; AAR93455.1; -; Genomic_DNA.
DR EMBL; AY495164; AAR93468.1; -; Genomic_DNA.
DR EMBL; AY495165; AAR93481.1; -; Genomic_DNA.
DR EMBL; AY495166; AAR93494.1; -; Genomic_DNA.
DR EMBL; AY495167; AAR93507.1; -; Genomic_DNA.
DR EMBL; AY495168; AAR93520.1; -; Genomic_DNA.
DR EMBL; AY495169; AAR93533.1; -; Genomic_DNA.
DR EMBL; AY495170; AAR93546.1; -; Genomic_DNA.
DR EMBL; AY495171; AAR93559.1; -; Genomic_DNA.
DR EMBL; AY495172; AAR93572.1; -; Genomic_DNA.
DR EMBL; AY495173; AAR93585.1; -; Genomic_DNA.
DR EMBL; AY495174; AAR93598.1; -; Genomic_DNA.
DR EMBL; AY495175; AAR93611.1; -; Genomic_DNA.
DR EMBL; AY495176; AAR93624.1; -; Genomic_DNA.
DR EMBL; AY495177; AAR93637.1; -; Genomic_DNA.
DR EMBL; AY495178; AAR93650.1; -; Genomic_DNA.
DR EMBL; AY495179; AAR93663.1; -; Genomic_DNA.
DR EMBL; AY495180; AAR93676.1; -; Genomic_DNA.
DR EMBL; AY495181; AAR93689.1; -; Genomic_DNA.
DR EMBL; AY495182; AAR93702.1; -; Genomic_DNA.
DR EMBL; AY495183; AAR93715.1; -; Genomic_DNA.
DR EMBL; AY495184; AAR93728.1; -; Genomic_DNA.
DR EMBL; AY495185; AAR93741.1; -; Genomic_DNA.
DR EMBL; AY495186; AAR93754.1; -; Genomic_DNA.
DR EMBL; AY495187; AAR93767.1; -; Genomic_DNA.
DR EMBL; AY495188; AAR93780.1; -; Genomic_DNA.
DR EMBL; AY495189; AAR93793.1; -; Genomic_DNA.
DR EMBL; AY495190; AAR93806.1; -; Genomic_DNA.
DR EMBL; AY495191; AAR93819.1; -; Genomic_DNA.
DR EMBL; AY495192; AAR93832.1; -; Genomic_DNA.
DR EMBL; AY495193; AAR93845.1; -; Genomic_DNA.
DR EMBL; AY495194; AAR93858.1; -; Genomic_DNA.
DR EMBL; AY495239; AAR94443.1; -; Genomic_DNA.
DR EMBL; AY495240; AAR94456.1; -; Genomic_DNA.
DR EMBL; AY495241; AAR94469.1; -; Genomic_DNA.
DR EMBL; AY495242; AAR94482.1; -; Genomic_DNA.
DR EMBL; AY495243; AAR94495.1; -; Genomic_DNA.
DR EMBL; AY495244; AAR94508.1; -; Genomic_DNA.
DR EMBL; AY495245; AAR94521.1; -; Genomic_DNA.
DR EMBL; AY495246; AAR94534.1; -; Genomic_DNA.
DR EMBL; AY495247; AAR94547.1; -; Genomic_DNA.
DR EMBL; AY495248; AAR94560.1; -; Genomic_DNA.
DR EMBL; AY495250; AAR94586.1; -; Genomic_DNA.
DR EMBL; AY495251; AAR94599.1; -; Genomic_DNA.
DR EMBL; AY495252; AAR94612.1; -; Genomic_DNA.
DR EMBL; AY495253; AAR94625.1; -; Genomic_DNA.
DR EMBL; AY495254; AAR94638.1; -; Genomic_DNA.
DR EMBL; AY495255; AAR94651.1; -; Genomic_DNA.
DR EMBL; AY495257; AAR94677.1; -; Genomic_DNA.
DR EMBL; AY495259; AAR94703.1; -; Genomic_DNA.
DR EMBL; AY495261; AAR94729.1; -; Genomic_DNA.
DR EMBL; AY495262; AAR94742.1; -; Genomic_DNA.
DR EMBL; AY495263; AAR94755.1; -; Genomic_DNA.
DR EMBL; AY495266; AAR94794.1; -; Genomic_DNA.
DR EMBL; AY495267; AAR94807.1; -; Genomic_DNA.
DR EMBL; AY495268; AAR94820.1; -; Genomic_DNA.
DR EMBL; AY495269; AAR94833.1; -; Genomic_DNA.
DR EMBL; AY495270; AAR94846.1; -; Genomic_DNA.
DR EMBL; AY495271; AAR94859.1; -; Genomic_DNA.
DR EMBL; AY495272; AAR94872.1; -; Genomic_DNA.
DR EMBL; AY495273; AAR94885.1; -; Genomic_DNA.
DR EMBL; AY495274; AAR94898.1; -; Genomic_DNA.
DR EMBL; AY495275; AAR94911.1; -; Genomic_DNA.
DR EMBL; AY495276; AAR94924.1; -; Genomic_DNA.
DR EMBL; AY495277; AAR94937.1; -; Genomic_DNA.
DR EMBL; AY495278; AAR94950.1; -; Genomic_DNA.
DR EMBL; AY495279; AAR94963.1; -; Genomic_DNA.
DR EMBL; AY495280; AAR94976.1; -; Genomic_DNA.
DR EMBL; AY495282; AAR95002.1; -; Genomic_DNA.
DR EMBL; AY495283; AAR95015.1; -; Genomic_DNA.
DR EMBL; AY495284; AAR95028.1; -; Genomic_DNA.
DR EMBL; AY495285; AAR95041.1; -; Genomic_DNA.
DR EMBL; AY495286; AAR95054.1; -; Genomic_DNA.
DR EMBL; AY495287; AAR95067.1; -; Genomic_DNA.
DR EMBL; AY495288; AAR95080.1; -; Genomic_DNA.
DR EMBL; AY495289; AAR95093.1; -; Genomic_DNA.
DR EMBL; AY495290; AAR95106.1; -; Genomic_DNA.
DR EMBL; AY495291; AAR95119.1; -; Genomic_DNA.
DR EMBL; AY495292; AAR95132.1; -; Genomic_DNA.
DR EMBL; AY495293; AAR95145.1; -; Genomic_DNA.
DR EMBL; AY495294; AAR95158.1; -; Genomic_DNA.
DR EMBL; AY495295; AAR95171.1; -; Genomic_DNA.
DR EMBL; AY495296; AAR95184.1; -; Genomic_DNA.
DR EMBL; AY495297; AAR95197.1; -; Genomic_DNA.
DR EMBL; AY495298; AAR95210.1; -; Genomic_DNA.
DR EMBL; AY495299; AAR95223.1; -; Genomic_DNA.
DR EMBL; AY495300; AAR95236.1; -; Genomic_DNA.
DR EMBL; AY495301; AAR95249.1; -; Genomic_DNA.
DR EMBL; AY495302; AAR95262.1; -; Genomic_DNA.
DR EMBL; AY495303; AAR95275.1; -; Genomic_DNA.
DR EMBL; AY495304; AAR95288.1; -; Genomic_DNA.
DR EMBL; AY495305; AAR95301.1; -; Genomic_DNA.
DR EMBL; AY495306; AAR95314.1; -; Genomic_DNA.
DR EMBL; AY495307; AAR95327.1; -; Genomic_DNA.
DR EMBL; AY495308; AAR95340.1; -; Genomic_DNA.
DR EMBL; AY495309; AAR95353.1; -; Genomic_DNA.
DR EMBL; AY495311; AAR95379.1; -; Genomic_DNA.
DR EMBL; AY495312; AAR95392.1; -; Genomic_DNA.
DR EMBL; AY495315; AAR95431.1; -; Genomic_DNA.
DR EMBL; AY495316; AAR95444.1; -; Genomic_DNA.
DR EMBL; AY495318; AAR95470.1; -; Genomic_DNA.
DR EMBL; AY495320; AAR95496.1; -; Genomic_DNA.
DR EMBL; AY495321; AAR95509.1; -; Genomic_DNA.
DR EMBL; AY495324; AAR95548.1; -; Genomic_DNA.
DR EMBL; AY495325; AAR95561.1; -; Genomic_DNA.
DR EMBL; AY495326; AAR95574.1; -; Genomic_DNA.
DR EMBL; AY495327; AAR95587.1; -; Genomic_DNA.
DR EMBL; AY495328; AAR95600.1; -; Genomic_DNA.
DR EMBL; AY495330; AAR95626.1; -; Genomic_DNA.
DR PIR; A00446; DNHUN5.
DR RefSeq; YP_003024036.1; NC_012920.1.
DR PDB; 5XTC; EM; 3.70 A; l=1-603.
DR PDB; 5XTD; EM; 3.70 A; l=1-603.
DR PDB; 5XTH; EM; 3.90 A; l=1-603.
DR PDB; 5XTI; EM; 17.40 A; Bl/l=1-603.
DR PDBsum; 5XTC; -.
DR PDBsum; 5XTD; -.
DR PDBsum; 5XTH; -.
DR PDBsum; 5XTI; -.
DR AlphaFoldDB; P03915; -.
DR SMR; P03915; -.
DR BioGRID; 110636; 80.
DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I.
DR CORUM; P03915; -.
DR IntAct; P03915; 28.
DR MINT; P03915; -.
DR STRING; 9606.ENSP00000354813; -.
DR BindingDB; P03915; -.
DR ChEMBL; CHEMBL2363065; -.
DR DrugBank; DB00157; NADH.
DR DrugCentral; P03915; -.
DR iPTMnet; P03915; -.
DR PhosphoSitePlus; P03915; -.
DR SwissPalm; P03915; -.
DR BioMuta; MT-ND5; -.
DR DMDM; 6648059; -.
DR EPD; P03915; -.
DR jPOST; P03915; -.
DR MassIVE; P03915; -.
DR PaxDb; P03915; -.
DR PeptideAtlas; P03915; -.
DR PRIDE; P03915; -.
DR ProteomicsDB; 51616; -.
DR Antibodypedia; 35363; 256 antibodies from 28 providers.
DR DNASU; 4540; -.
DR Ensembl; ENST00000361567.2; ENSP00000354813.2; ENSG00000198786.2.
DR GeneID; 4540; -.
DR KEGG; hsa:4540; -.
DR CTD; 4540; -.
DR DisGeNET; 4540; -.
DR GeneCards; MT-ND5; -.
DR GeneReviews; MT-ND5; -.
DR HGNC; HGNC:7461; MT-ND5.
DR HPA; ENSG00000198786; Tissue enhanced (brain, skeletal muscle).
DR MalaCards; MT-ND5; -.
DR MIM; 256000; phenotype.
DR MIM; 516005; gene.
DR MIM; 535000; phenotype.
DR MIM; 540000; phenotype.
DR neXtProt; NX_P03915; -.
DR OpenTargets; ENSG00000198786; -.
DR Orphanet; 104; Leber hereditary optic neuropathy.
DR Orphanet; 550; MELAS.
DR Orphanet; 551; MERRF.
DR Orphanet; 255210; Mitochondrial DNA-associated Leigh syndrome.
DR VEuPathDB; HostDB:ENSG00000198786; -.
DR eggNOG; KOG4668; Eukaryota.
DR GeneTree; ENSGT00730000111303; -.
DR HOGENOM; CLU_007100_6_0_1; -.
DR InParanoid; P03915; -.
DR OMA; GVGIMSF; -.
DR OrthoDB; 526738at2759; -.
DR PhylomeDB; P03915; -.
DR TreeFam; TF342974; -.
DR BioCyc; MetaCyc:HS00035-MON; -.
DR PathwayCommons; P03915; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; P03915; -.
DR SIGNOR; P03915; -.
DR BioGRID-ORCS; 4540; 0 hits in 2 CRISPR screens.
DR ChiTaRS; MT-ND5; human.
DR GenomeRNAi; 4540; -.
DR Pharos; P03915; Tclin.
DR PRO; PR:P03915; -.
DR Proteomes; UP000005640; Mitochondrion.
DR RNAct; P03915; protein.
DR Bgee; ENSG00000198786; Expressed in nasal cavity epithelium and 176 other tissues.
DR ExpressionAtlas; P03915; baseline and differential.
DR Genevisible; P03915; 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:0043005; C:neuron projection; IEA:Ensembl.
DR GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; IMP:UniProtKB.
DR GO; GO:0003954; F:NADH dehydrogenase activity; IBA:GO_Central.
DR GO; GO:0009060; P:aerobic respiration; IC:ComplexPortal.
DR GO; GO:0015990; P:electron transport coupled proton transport; 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 GO; GO:0042542; P:response to hydrogen peroxide; IEA:Ensembl.
DR GO; GO:0001666; P:response to hypoxia; IEA:Ensembl.
DR GO; GO:0010243; P:response to organonitrogen compound; IEA:Ensembl.
DR InterPro; IPR010934; NADH_DH_su5_C.
DR InterPro; IPR018393; NADHpl_OxRdtase_5_subgr.
DR InterPro; IPR001750; ND/Mrp_mem.
DR InterPro; IPR003945; NU5C-like.
DR InterPro; IPR001516; Proton_antipo_N.
DR PANTHER; PTHR42829; PTHR42829; 1.
DR Pfam; PF06455; NADH5_C; 1.
DR Pfam; PF00361; Proton_antipo_M; 1.
DR Pfam; PF00662; Proton_antipo_N; 1.
DR TIGRFAMs; TIGR01974; NDH_I_L; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Electron transport;
KW Leber hereditary optic neuropathy; Leigh syndrome; MELAS 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..603
FT /note="NADH-ubiquinone oxidoreductase chain 5"
FT /id="PRO_0000118101"
FT TRANSMEM 38..58
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 87..107
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 122..142
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 144..160
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 171..191
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 211..233
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 241..261
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 272..292
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 301..320
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 325..347
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 370..390
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 407..429
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 458..478
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 482..502
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 582..602
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VARIANT 17
FT /note="P -> S"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008864"
FT VARIANT 95
FT /note="F -> S (in dbSNP:rs1603223838)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008865"
FT VARIANT 99
FT /note="S -> P (in dbSNP:rs1603223847)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008866"
FT VARIANT 124
FT /note="F -> L (in LS; dbSNP:rs267606893)"
FT /evidence="ECO:0000269|PubMed:11938446"
FT /id="VAR_035424"
FT VARIANT 145
FT /note="E -> G (in MELAS; dbSNP:rs267606894)"
FT /evidence="ECO:0000269|PubMed:12509858"
FT /id="VAR_035425"
FT VARIANT 146
FT /note="G -> D"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008867"
FT VARIANT 160
FT /note="A -> V"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008868"
FT VARIANT 165
FT /note="N -> S"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008869"
FT VARIANT 171
FT /note="A -> V (in LHON; dbSNP:rs267606899)"
FT /evidence="ECO:0000269|PubMed:16240359"
FT /id="VAR_035426"
FT VARIANT 211
FT /note="T -> P (in dbSNP:rs1556424197)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011357"
FT VARIANT 236
FT /note="A -> T (in MELAS; dbSNP:rs267606898)"
FT /evidence="ECO:0000269|PubMed:15767514,
FT ECO:0000269|PubMed:17400793"
FT /id="VAR_035427"
FT VARIANT 237
FT /note="M -> L (in MELAS; disease features overlapping with
FT Leber optic atrophy and Leigh syndrome; dbSNP:rs267606895)"
FT /evidence="ECO:0000269|PubMed:12509858"
FT /id="VAR_035428"
FT VARIANT 250
FT /note="S -> C (in LS; dbSNP:rs267606896)"
FT /evidence="ECO:0000269|PubMed:12796552"
FT /id="VAR_035429"
FT VARIANT 253
FT /note="V -> A (found in a patient with mitochondrial
FT complex I deficiency; unknown pathological significance;
FT dbSNP:rs1603224029)"
FT /evidence="ECO:0000269|PubMed:20818383"
FT /id="VAR_064566"
FT VARIANT 257
FT /note="I -> V (in dbSNP:rs2853501)"
FT /evidence="ECO:0000269|PubMed:11553319,
FT ECO:0000269|PubMed:7530363"
FT /id="VAR_011358"
FT VARIANT 304
FT /note="F -> S (in dbSNP:rs1603224108)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008870"
FT VARIANT 314
FT /note="M -> V (in dbSNP:rs2853502)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011359"
FT VARIANT 331
FT /note="T -> A (in dbSNP:rs1556424263)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008871"
FT VARIANT 393
FT /note="D -> N (in MELAS; dbSNP:rs267606897)"
FT /evidence="ECO:0000269|PubMed:17400793,
FT ECO:0000269|PubMed:9299505"
FT /id="VAR_035430"
FT VARIANT 447
FT /note="N -> S (found in a patient with mitochondrial
FT complex I deficiency; unknown pathological significance;
FT dbSNP:rs1603224300)"
FT /evidence="ECO:0000269|PubMed:20818383"
FT /id="VAR_064567"
FT VARIANT 458
FT /note="A -> T (in LHON; secondary mutation; does not seem
FT to directly cause the disease; dbSNP:rs28359178)"
FT /evidence="ECO:0000269|PubMed:1732158,
FT ECO:0000269|PubMed:1900003"
FT /id="VAR_004761"
FT VARIANT 465
FT /note="G -> E (in LHON; primary rare mutation;
FT dbSNP:rs387906425)"
FT /evidence="ECO:0000269|PubMed:8213825"
FT /id="VAR_004762"
FT VARIANT 475
FT /note="A -> T (in dbSNP:rs386420024)"
FT /evidence="ECO:0000269|PubMed:9461455"
FT /id="VAR_008603"
FT VARIANT 503
FT /note="D -> G"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008872"
FT CONFLICT 456
FT /note="R -> G (in Ref. 1; CAA24036)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 603 AA; 67027 MW; 18A06227ABC9162A CRC64;
MTMHTTMTTL TLTSLIPPIL TTLVNPNKKN SYPHYVKSIV ASTFIISLFP TTMFMCLDQE
VIISNWHWAT TQTTQLSLSF KLDYFSMMFI PVALFVTWSI MEFSLWYMNS DPNINQFFKY
LLIFLITMLI LVTANNLFQL FIGWEGVGIM SFLLISWWYA RADANTAAIQ AILYNRIGDI
GFILALAWFI LHSNSWDPQQ MALLNANPSL TPLLGLLLAA AGKSAQLGLH PWLPSAMEGP
TPVSALLHSS TMVVAGIFLL IRFHPLAENS PLIQTLTLCL GAITTLFAAV CALTQNDIKK
IVAFSTSSQL GLMMVTIGIN QPHLAFLHIC THAFFKAMLF MCSGSIIHNL NNEQDIRKMG
GLLKTMPLTS TSLTIGSLAL AGMPFLTGFY SKDHIIETAN MSYTNAWALS ITLIATSLTS
AYSTRMILLT LTGQPRFPTL TNINENNPTL LNPIKRLAAG SLFAGFLITN NISPASPFQT
TIPLYLKLTA LAVTFLGLLT ALDLNYLTNK LKMKSPLCTF YFSNMLGFYP SITHRTIPYL
GLLTSQNLPL LLLDLTWLEK LLPKTISQHQ ISTSIITSTQ KGMIKLYFLS FFFPLILTLL
LIT
