ID Q4GEA1_HUMAN Unreviewed; 347 AA. AC Q4GEA1; DT 30-AUG-2005, integrated into UniProtKB/TrEMBL. DT 30-AUG-2005, sequence version 1. DT 27-MAY-2015, entry version 57. DE RecName: Full=NADH-ubiquinone oxidoreductase chain 2 {ECO:0000256|RuleBase:RU003403, ECO:0000256|SAAS:SAAS00093744}; DE EC=1.6.5.3 {ECO:0000256|RuleBase:RU003403, ECO:0000256|SAAS:SAAS00093728}; 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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., RA Fuku N., Guo L., Hirose R., Fujita Y., Kurata M., Shinoda K., RA Umetsu K., Yamada Y., Oshida Y., Sato Y., Hattori N., Mizuno Y., RA Arai Y., Hirose N., Ohta S., Ogawa O., Tanaka Y., Kawamori R., RA Shamoto-Nagai M., Maruyama W., 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 RT mitochondrial 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., RA Mori N., Yamada K., Yoshikawa T., Kato N., Kato T.; RT "Mitochondrial DNA haplogroup analysis in patients with Bipolar RT 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 RT calcium 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 RT intracellular 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 RT in 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., RA Remacle J., Robine J.M., Schreiber S., Sikora E., Eline Slagboom P., RA Spazzafumo L., Antonietta Stazi M., Toussaint O., Vaupel J.W., RA Rose G., Majamaa K., Perola M., Johnson T.E., Bolund L., Yang H., RA 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). CC -!- FUNCTION: Core subunit of the mitochondrial membrane respiratory CC chain NADH dehydrogenase (Complex I) that is believed to belong to CC the minimal assembly required for catalysis. Complex I functions CC in the transfer of electrons from NADH to the respiratory chain. CC The immediate electron acceptor for the enzyme is believed to be CC ubiquinone (By similarity). {ECO:0000256|SAAS:SAAS00207298}. CC -!- CATALYTIC ACTIVITY: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + CC ubiquinol + 4 H(+)(Out). {ECO:0000256|RuleBase:RU003403, CC ECO:0000256|SAAS:SAAS00093735}. CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane CC {ECO:0000256|RuleBase:RU003403, ECO:0000256|SAAS:SAAS00093751}; CC Multi-pass membrane protein {ECO:0000256|RuleBase:RU003403, CC ECO:0000256|SAAS:SAAS00093751}. CC -!- SIMILARITY: Belongs to the complex I subunit 2 family. CC {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; 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 PRIDE; Q4GEA1; -. DR HOVERGEN; HBG016692; -. DR NextBio; 35538764; -. 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:respiratory chain; 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; Oxidored_q1; 1. DR PRINTS; PR01436; NADHDHGNASE2. PE 3: Inferred from homology; KW Electron transport {ECO:0000256|SAAS:SAAS00093681}; KW Membrane {ECO:0000256|SAAS:SAAS00093718}; KW Mitochondrion {ECO:0000256|SAAS:SAAS00093699, KW ECO:0000313|EMBL:BAE13242.1}; KW Mitochondrion inner membrane {ECO:0000256|SAAS:SAAS00093736}; KW NAD {ECO:0000256|RuleBase:RU000317, ECO:0000256|SAAS:SAAS00093707}; KW Oxidoreductase {ECO:0000256|RuleBase:RU000317, KW ECO:0000256|SAAS:SAAS00093734}; KW Respiratory chain {ECO:0000256|SAAS:SAAS00093685}; KW Transmembrane {ECO:0000256|SAAS:SAAS00093696}; KW Transmembrane helix {ECO:0000256|SAAS:SAAS00093666}; KW Transport {ECO:0000256|SAAS:SAAS00093687}; KW Ubiquinone {ECO:0000256|RuleBase:RU000318, KW ECO:0000256|SAAS:SAAS00093675}. 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 //