ID Q4GEA1_HUMAN Unreviewed; 347 AA. AC Q4GEA1; DT 30-AUG-2005, integrated into UniProtKB/TrEMBL. DT 30-AUG-2005, sequence version 1. DT 29-SEP-2021, entry version 90. DE RecName: Full=NADH-ubiquinone oxidoreductase chain 2 {ECO:0000256|RuleBase:RU003403}; DE EC=7.1.1.2 {ECO:0000256|RuleBase:RU003403}; GN Name=NADH2 {ECO:0000313|EMBL:BAE13242.1}; GN Synonyms=ND2 {ECO:0000313|EMBL:AEG63015.1}, ndh2 GN {ECO:0000313|EMBL:BAN79759.1}; OS Homo sapiens (Human). OG Mitochondrion {ECO:0000313|EMBL:BAE13242.1}. OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:BAE13242.1}; RN [1] {ECO:0000313|EMBL:BAE13242.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=HNsq0238 {ECO:0000313|EMBL:BAE13242.1}; RX PubMed=15466285; DOI=10.1101/gr.2286304; RA Tanaka M., Cabrera V.M., Gonzalez A.M., Larruga J.M., Takeyasu T., Fuku N., RA Guo L., Hirose R., Fujita Y., Kurata M., Shinoda K., Umetsu K., Yamada Y., RA Oshida Y., Sato Y., Hattori N., Mizuno Y., Arai Y., Hirose N., Ohta S., RA Ogawa O., Tanaka Y., Kawamori R., Shamoto-Nagai M., Maruyama W., RA Shimokata H., Suzuki R., Shimodaira H.; RT "Mitochondrial genome variation in eastern Asia and the peopling of RT Japan."; RL Genome Res. 14:1832-1850(2004). RN [2] {ECO:0000313|EMBL:BAG39189.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd38 {ECO:0000313|EMBL:BAG39189.1}, and Mdmd39 RC {ECO:0000313|EMBL:BAG39202.1}; RX PubMed=16048457; DOI=10.1111/j.1440-1819.2005.01404.x; RA Kazuno A., Munakata K., Mori K., Tanaka M., Nanko S., Kunugi H., RA Umekage T., Tochigi M., Kohda K., Sasaki T., Akiyama T., Washizuka S., RA Kato N., Kato T.; RT "Mitochondrial DNA sequence analysis of patients with 'atypical RT psychosis'."; RL Psychiatry Clin. Neurosci. 59:497-503(2005). RN [3] {ECO:0000313|EMBL:BAE13242.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=HNsq0238 {ECO:0000313|EMBL:BAE13242.1}; RA Tanaka M.; RT "Human mitochondrial genome polymorphism database (mtSNP)."; RL Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases. RN [4] {ECO:0000313|EMBL:BAG39189.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd38 {ECO:0000313|EMBL:BAG39189.1}, and Mdmd39 RC {ECO:0000313|EMBL:BAG39202.1}; RX PubMed=16895436; DOI=10.1371/journal.pgen.0020128; RA Kazuno A., Munakata K., Nagai T., Shimozono S., Tanaka M., Yoneda M., RA Kato N., Miyawaki A., Kato T.; RT "Identification of mitochondrial DNA polymorphisms that alter mitochondrial RT matrix pH and intracellular calcium dynamics."; RL PLoS Genet. 2:e128-e128(2006). RN [5] {ECO:0000313|EMBL:BAG39189.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd38 {ECO:0000313|EMBL:BAG39189.1}, and Mdmd39 RC {ECO:0000313|EMBL:BAG39202.1}; RA Kazuno A., Munakata K., Mori K., Nanko S., Kunugi H., Nakamura K., Mori N., RA Yamada K., Yoshikawa T., Kato N., Kato T.; RT "Mitochondrial DNA haplogroup analysis in patients with Bipolar Disorder."; RL Am. J. Med. Genet. B Neuropsychiatr. Genet. 0:0-0(2008). RN [6] {ECO:0000313|EMBL:BAG39189.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd38 {ECO:0000313|EMBL:BAG39189.1}, and Mdmd39 RC {ECO:0000313|EMBL:BAG39202.1}; RX PubMed=17288645; RA Kazuno A., Munakata K., Kato N., Kato T.; RT "Mitochondrial DNA-dependent effects of valproate on mitochondrial calcium RT levels in transmitochondrial cybrids."; RL Int. J. Neuropsychopharmacol. 11:71-78(2008). RN [7] {ECO:0000313|EMBL:BAG39189.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd38 {ECO:0000313|EMBL:BAG39189.1}, and Mdmd39 RC {ECO:0000313|EMBL:BAG39202.1}; RX PubMed=18226984; DOI=10.1016/j.mito.2007.12.002; RA Kazuno A., Munakata K., Tanaka M., Kato N., Kato T.; RT "Relationships between mitochondrial DNA subhaplogroups and intracellular RT calcium dynamics."; RL Mitochondrion 8:164-169(2008). RN [8] {ECO:0000313|EMBL:BAH11055.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=19066930; DOI=10.1007/s00414-008-0308-5; RA Nohira C., Maruyama S., Minaguchi K.; RT "Phylogenetic classification of Japanese mtDNA assisted by complete RT mitochondrial DNA sequences."; RL Int. J. Legal Med. 124:7-12(2010). RN [9] {ECO:0000313|EMBL:AEG63015.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Esophageal cancerous tissue {ECO:0000313|EMBL:AEG63015.1}, and RC Paracancerous normal esophageal tissue {ECO:0000313|EMBL:AEG64224.1}; RX PubMed=22130971; DOI=10.1093/molbev/msr290; RA Liu J., Wang L.D., Sun Y.B., Li E.M., Xu L.Y., Zhang Y.P., Yao Y.G., RA Kong Q.P.; RT "Deciphering the signature of selective constraints on cancerous RT mitochondrial genome."; RL Mol. Biol. Evol. 29:1255-1261(2012). RN [10] {ECO:0000313|EMBL:BAN79759.1} RP NUCLEOTIDE SEQUENCE. RA Mikami E., Fuku N., Kong Q.P., Takahashi H., Ohiwa N., Murakami H., RA Miyachi M., Pitsiladis Y.P., Higuchi M., Kawahara T., Tanaka M.; RT "Comprehensive analysis of common and rare mitochondrial DNA variants in RT elite Japanese athletes: Case-control study."; RL Submitted (AUG-2013) to the EMBL/GenBank/DDBJ databases. RN [11] {ECO:0000313|EMBL:AFO26853.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=24341918; DOI=10.1111/acel.12186; RA Raule N., Sevini F., Li S., Barbieri A., Tallaro F., Lomartire L., RA Vianello D., Montesanto A., Moilanen J.S., Bezrukov V., Blanche H., RA Hervonen A., Christensen K., Deiana L., Gonos E.S., Kirkwood T.B., RA Kristensen P., Leon A., Pelicci P.G., Poulain M., Rea I.M., Remacle J., RA Robine J.M., Schreiber S., Sikora E., Eline Slagboom P., Spazzafumo L., RA Antonietta Stazi M., Toussaint O., Vaupel J.W., Rose G., Majamaa K., RA Perola M., Johnson T.E., Bolund L., Yang H., Passarino G., Franceschi C.; RT "The co-occurrence of mtDNA mutations on different oxidative RT phosphorylation subunits, not detected by haplogroup analysis, affects RT human longevity and is population specific."; RL Aging Cell 13:401-407(2014). RN [12] {ECO:0000313|EMBL:ALD87808.1} RP NUCLEOTIDE SEQUENCE. RA Zheng H.-X., Qin Z.-D., Jin L.; RT "The mitochondrial DNA diversity of World populations."; RL Submitted (DEC-2014) to the EMBL/GenBank/DDBJ databases. RN [13] {ECO:0000313|EMBL:AQX91655.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Blood {ECO:0000313|EMBL:AQX91655.1}; RX PubMed=28187756; DOI=10.1186/s12881-017-0377-8; RA Soini H.K., Vaisanen A., Karppa M., Hinttala R., Kytovuori L., RA Moilanen J.S., Uusimaa J., Majamaa K.; RT "A novel MTTT mutation m.15933G?>?A revealed in analysis of mitochondrial RT DNA in patients with suspected mitochondrial disease."; RL BMC Med. Genet. 18:14-14(2017). 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. Essential for the catalytic activity and assembly of complex CC I. {ECO:0000256|RuleBase:RU003403}. 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:0000256|ARBA:ARBA00000766, CC ECO:0000256|RuleBase:RU003403}; CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000256|ARBA:ARBA00004141}; Multi- CC pass membrane protein {ECO:0000256|ARBA:ARBA00004141}. Mitochondrion CC inner membrane {ECO:0000256|ARBA:ARBA00004448, CC ECO:0000256|RuleBase:RU003403}; Multi-pass membrane protein CC {ECO:0000256|ARBA:ARBA00004448, ECO:0000256|RuleBase:RU003403}. CC -!- SIMILARITY: Belongs to the complex I subunit 2 family. CC {ECO:0000256|ARBA:ARBA00007012, ECO:0000256|RuleBase:RU003403}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; JF824882; AEG63015.1; -; Genomic_DNA. DR EMBL; JF824975; AEG64224.1; -; Genomic_DNA. DR EMBL; JX153283; AFO26853.1; -; Genomic_DNA. DR EMBL; KP240884; ALD87808.1; -; Genomic_DNA. DR EMBL; KY496893; AQX91655.1; -; Genomic_DNA. DR EMBL; AP008712; BAE13242.1; -; Genomic_DNA. DR EMBL; AP009456; BAG39189.1; -; Genomic_DNA. DR EMBL; AP009457; BAG39202.1; -; Genomic_DNA. DR EMBL; AP010836; BAH11055.1; -; Genomic_DNA. DR EMBL; AP013142; BAN79759.1; -; Genomic_DNA. DR PeptideAtlas; Q4GEA1; -. DR OMA; WVPEVTQ; -. DR ChiTaRS; ND2; human. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell. DR GO; GO:0070469; C:respirasome; IEA:UniProtKB-KW. DR GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; IEA:UniProtKB-EC. DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IEA:InterPro. DR InterPro; IPR010933; NADH_DH_su2_C. DR InterPro; IPR003917; NADH_UbQ_OxRdtase_chain2. DR InterPro; IPR001750; ND/Mrp_mem. DR Pfam; PF06444; NADH_dehy_S2_C; 1. DR Pfam; PF00361; Proton_antipo_M; 1. DR PRINTS; PR01436; NADHDHGNASE2. PE 3: Inferred from homology; KW Electron transport {ECO:0000256|RuleBase:RU003403}; KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|RuleBase:RU003403}; KW Mitochondrion {ECO:0000256|ARBA:ARBA00023128, KW ECO:0000256|RuleBase:RU003403}; KW Mitochondrion inner membrane {ECO:0000256|ARBA:ARBA00022792, KW ECO:0000256|RuleBase:RU003403}; NAD {ECO:0000256|RuleBase:RU003403}; KW Respiratory chain {ECO:0000256|RuleBase:RU003403}; KW Translocase {ECO:0000256|RuleBase:RU003403}; KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, KW ECO:0000256|RuleBase:RU003403}; KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989, KW ECO:0000256|RuleBase:RU003403}; Transport {ECO:0000256|ARBA:ARBA00022448}; KW Ubiquinone {ECO:0000256|RuleBase:RU003403}. FT TRANSMEM 56..76 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 96..115 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 151..171 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 178..196 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 202..219 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 239..257 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 277..305 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT TRANSMEM 325..346 FT /note="Helical" FT /evidence="ECO:0000256|RuleBase:RU003403" FT DOMAIN 23..284 FT /note="Proton_antipo_M" FT /evidence="ECO:0000259|Pfam:PF00361" FT DOMAIN 290..343 FT /note="NADH_dehy_S2_C" FT /evidence="ECO:0000259|Pfam:PF06444" SQ SEQUENCE 347 AA; 38927 MW; 208FD982317C358D CRC64; MNPLAQPVIY STIFAGTLIT ALSSHWFFTW VGLEMNMLAF IPVLTKKMNP RSTEAAIKYF LTQATASMIL LMAILFNNML SGQWTMTNTT NQYSSLMIMM AMAMKLGMAP FHFWVPEVTQ GTPLTSGLLL LTWQKLAPIS IMYQISPSLN VSLLLTLSIL SIMAGSWGGL NQTQLRKILA YSSITHMGWM MAVLPYNPNM TILNLTIYII LTTTAFLLLN LNSSTTTLLL SRTWNKLTWL TPLIPSTLLS LGGLPPLTGF LPKWAIIEEF TKNNSLIIPT IMATITLLNL YFYLRLIYST SITLLPMSNN VKMKWQLEHT KPTPFLPTLI ALTTLLLPIS PFMLMIL //