ID Q4GVU8_HUMAN Unreviewed; 513 AA. AC Q4GVU8; DT 30-AUG-2005, integrated into UniProtKB/TrEMBL. DT 30-AUG-2005, sequence version 1. DT 08-MAY-2019, entry version 103. DE RecName: Full=Cytochrome c oxidase subunit 1 {ECO:0000256|RuleBase:RU000369}; DE EC=1.9.3.1 {ECO:0000256|RuleBase:RU000369}; GN Name=COI {ECO:0000313|EMBL:BAE07443.1}; GN Synonyms=COX1 {ECO:0000313|EMBL:ACA22373.1}, coxI GN {ECO:0000313|EMBL:BAN79832.1}; OS Homo sapiens (Human). OG Mitochondrion {ECO:0000313|EMBL:BAE07443.1}. OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|EMBL:BAE07443.1}; RN [1] {ECO:0000313|EMBL:BAE07443.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=HNsq0219 {ECO:0000313|EMBL:BAE13022.1}, PDsq0056 RC {ECO:0000313|EMBL:BAE09016.1}, and TCsq0007 RC {ECO:0000313|EMBL:BAE07443.1}; 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:BAG39021.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd25 {ECO:0000313|EMBL:BAG39021.1}; 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:BAE07443.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=HNsq0219 {ECO:0000313|EMBL:BAE13022.1}, PDsq0056 RC {ECO:0000313|EMBL:BAE09016.1}, and TCsq0007 RC {ECO:0000313|EMBL:BAE07443.1}; 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:BAG39021.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd25 {ECO:0000313|EMBL:BAG39021.1}; 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:ACA22373.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Chuk101 {ECO:0000313|EMBL:ACA22373.1}; RX PubMed=18452887; DOI=10.1016/j.ajhg.2008.03.019; RA Volodko N.V., Starikovskaya E.B., Mazunin I.O., Eltsov N.P., RA Naidenko P.V., Wallace D.C., Sukernik R.I.; RT "Mitochondrial genome diversity in arctic Siberians, with particular RT reference to the evolutionary history of Beringia and Pleistocenic RT peopling of the Americas."; RL Am. J. Hum. Genet. 82:1084-1100(2008). RN [6] {ECO:0000313|EMBL:BAG39021.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd25 {ECO:0000313|EMBL:BAG39021.1}; 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 [7] {ECO:0000313|EMBL:BAG39021.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd25 {ECO:0000313|EMBL:BAG39021.1}; 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 [8] {ECO:0000313|EMBL:BAG39021.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=Mdmd25 {ECO:0000313|EMBL:BAG39021.1}; 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 [9] {ECO:0000313|EMBL:ACM69780.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=GL37 {ECO:0000313|EMBL:ACM69780.1}; RX PubMed=19624810; DOI=10.1186/1471-2148-9-173; RA Kumar S., Ravuri R.R., Koneru P., Urade B.P., Sarkar B.N., RA Chandrasekar A., Rao V.R.; RT "Reconstructing Indian-Australian phylogenetic link."; RL BMC Evol. Biol. 9:173-173(2009). RN [10] {ECO:0000313|EMBL:ACM69780.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=GL37 {ECO:0000313|EMBL:ACM69780.1}; RX PubMed=19823670; DOI=10.1371/journal.pone.0007447; RA Chandrasekar A., Kumar S., Sreenath J., Sarkar B.N., Urade B.P., RA Mallick S., Bandopadhyay S.S., Barua P., Barik S.S., Basu D., RA Kiran U., Gangopadhyay P., Sahani R., Prasad B.V., Gangopadhyay S., RA Lakshmi G.R., Ravuri R.R., Padmaja K., Venugopal P.N., Sharma M.B., RA Rao V.R.; RT "Updating phylogeny of mitochondrial DNA macrohaplogroup m in India: RT dispersal of modern human in South Asian corridor."; RL PLoS ONE 4:E7447-E7447(2009). RN [11] {ECO:0000313|EMBL:ADG46466.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=20587512; DOI=10.1101/gr.109231.110; RA Perego U.A., Angerhofer N., Pala M., Olivieri A., Lancioni H., RA Kashani B.H., Carossa V., Ekins J.E., Gomez-Carballa A., Huber G., RA Zimmermann B., Corach D., Babudri N., Panara F., Myres N.M., RA Parson W., Semino O., Salas A., Woodward S.R., Achilli A., Torroni A.; RT "The initial peopling of the Americas: a growing number of founding RT mitochondrial genomes from Beringia."; RL Genome Res. 20:1174-1179(2010). RN [12] {ECO:0000313|EMBL:AFF96408.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=22482806; DOI=10.1016/j.ajhg.2012.03.002; RA Behar D.M., van Oven M., Rosset S., Metspalu M., Loogvali E.L., RA Silva N.M., Kivisild T., Torroni A., Villems R.; RT "A "Copernican" reassessment of the human mitochondrial DNA tree from RT its root."; RL Am. J. Hum. Genet. 90:675-684(2012). RN [13] {ECO:0000313|EMBL:AGC16424.1} RP NUCLEOTIDE SEQUENCE. RA Duggan A.T., Stoneking M.; RT "A Highly Unstable Recent Mutation in Human mtDNA."; RL Am. J. Hum. Genet. 0:0-0(2013). RN [14] {ECO:0000313|EMBL:BAN79832.1} 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 [15] {ECO:0000313|EMBL:AID12811.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=24901532; RA Barbieri C., Vicente M., Oliveira S., Bostoen K., Rocha J., RA Stoneking M., Pakendorf B.; RT "Migration and Interaction in a Contact Zone: mtDNA Variation among RT Bantu-Speakers in Southern Africa."; RL PLoS ONE 9:E99117-E99117(2014). RN [16] {ECO:0000313|EMBL:AID61001.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=25757516; RA Gomes S.M., Bodner M., Souto L., Zimmermann B., Huber G., Strobl C., RA Roeck A.W., Achilli A., Olivieri A., Torroni A., Corte-Real F., RA Parson W.; RT "Human settlement history between Sunda and Sahul: a focus on East RT Timor (Timor-Leste) and the Pleistocenic mtDNA diversity."; RL BMC Genomics 16:70-70(2015). RN [17] {ECO:0000313|EMBL:ALM03578.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=26509580; RA Hernandez C.L., Soares P., Dugoujon J.M., Novelletto A., RA Rodriguez J.N., Rito T., Oliveira M., Melhaoui M., Baali A., RA Pereira L., Calderon R.; RT "Early Holocenic and Historic mtDNA African Signatures in the Iberian RT Peninsula: The Andalusian Region as a Paradigm."; RL PLoS ONE 10:E0139784-E0139784(2015). RN [18] {ECO:0000313|EMBL:AGA55911.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=26781090; DOI=10.1007/s00439-015-1620-z; RA Soares P.A., Trejaut J.A., Rito T., Cavadas B., Hill C., Eng K.K., RA Mormina M., Brandao A., Fraser R.M., Wang T.Y., Loo J.H., Snell C., RA Ko T.M., Amorim A., Pala M., Macaulay V., Bulbeck D., Wilson J.F., RA Gusmao L., Pereira L., Oppenheimer S., Lin M., Richards M.B.; RT "Resolving the ancestry of Austronesian-speaking populations."; RL Hum. Genet. 135:309-326(2016). RN [19] {ECO:0000313|EMBL:AOT80857.1} RP NUCLEOTIDE SEQUENCE. RA Gomez-Carballa A., Pardo-Seco J., Martinon-Torres F., Salas A.; RT "Analyses of mitogenomes do not support a role of mitochondrial DNA RT variation in sperm motility."; RL Submitted (MAR-2016) to the EMBL/GenBank/DDBJ databases. RN [20] {ECO:0000313|EMBL:AUT78487.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=29304377; DOI=10.1016/j.ajhg.2017.11.011; RA Brucato N., Fernandes V., Mazieres S., Kusuma P., Cox M.P., RA Ng'ang'a J.W., Omar M., Simeone-Senelle M.C., Frassati C., RA Alshamali F., Fin B., Boland A., Deleuze J.F., Stoneking M., RA Adelaar A., Crowther A., Boivin N., Pereira L., Bailly P., RA Chiaroni J., Ricaut F.X.; RT "The Comoros Show the Earliest Austronesian Gene Flow into the Swahili RT Corridor."; RL Am. J. Hum. Genet. 102:58-68(2018). CC -!- FUNCTION: Cytochrome c oxidase is the component of the respiratory CC chain that catalyzes the reduction of oxygen to water. Subunits 1- CC 3 form the functional core of the enzyme complex. CO I is the CC catalytic subunit of the enzyme. Electrons originating in CC cytochrome c are transferred via the copper A center of subunit 2 CC and heme A of subunit 1 to the bimetallic center formed by heme A3 CC and copper B. {ECO:0000256|RuleBase:RU000369}. CC -!- CATALYTIC ACTIVITY: CC Reaction=4 [Fe(II)cytochrome c] + 4 H(+) + O2 = 4 CC [Fe(III)cytochrome c] + 2 H2O; Xref=Rhea:RHEA:11436, Rhea:RHEA- CC COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15377, CC ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, CC ChEBI:CHEBI:29034; EC=1.9.3.1; CC Evidence={ECO:0000256|RuleBase:RU000369, CC ECO:0000256|SAAS:SAAS01116619}; CC -!- PATHWAY: Energy metabolism; oxidative phosphorylation. CC {ECO:0000256|RuleBase:RU000369, ECO:0000256|SAAS:SAAS00887552}. CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane CC {ECO:0000256|RuleBase:RU000369}; Multi-pass membrane protein CC {ECO:0000256|RuleBase:RU000369}. CC -!- SIMILARITY: Belongs to the heme-copper respiratory oxidase family. CC {ECO:0000256|RuleBase:RU000369}. 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; EU482342; ACA22373.1; -; Genomic_DNA. DR EMBL; FJ383204; ACM69780.1; -; Genomic_DNA. DR EMBL; HM107337; ADG46466.1; -; Genomic_DNA. DR EMBL; JQ704496; AFF96408.1; -; Genomic_DNA. DR EMBL; JX987459; AGA55911.1; -; Genomic_DNA. DR EMBL; JX900416; AGC16424.1; -; Genomic_DNA. DR EMBL; KJ185800; AID12811.1; -; Genomic_DNA. DR EMBL; KJ185801; AID12824.1; -; Genomic_DNA. DR EMBL; KJ676782; AID61001.1; -; Genomic_DNA. DR EMBL; KJ676784; AID61027.1; -; Genomic_DNA. DR EMBL; KT819233; ALM03578.1; -; Genomic_DNA. DR EMBL; KU867580; AOT80857.1; -; Genomic_DNA. DR EMBL; KU867608; AOT81221.1; -; Genomic_DNA. DR EMBL; MF695952; AUT78487.1; -; Genomic_DNA. DR EMBL; AP008266; BAE07443.1; -; Genomic_DNA. DR EMBL; AP008387; BAE09016.1; -; Genomic_DNA. DR EMBL; AP008695; BAE13022.1; -; Genomic_DNA. DR EMBL; AP009443; BAG39021.1; -; Genomic_DNA. DR EMBL; AP013148; BAN79832.1; -; Genomic_DNA. DR EMBL; AP013289; BAN81524.1; -; Genomic_DNA. DR PeptideAtlas; Q4GVU8; -. DR eggNOG; KOG4769; Eukaryota. DR eggNOG; COG0843; LUCA. DR UniPathway; UPA00705; -. DR ChiTaRS; MT-CO1; 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:0045277; C:respiratory chain complex IV; IEA:InterPro. DR GO; GO:0004129; F:cytochrome-c oxidase activity; IEA:UniProtKB-EC. DR GO; GO:0020037; F:heme binding; IEA:InterPro. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0009060; P:aerobic respiration; IEA:InterPro. DR GO; GO:0006119; P:oxidative phosphorylation; IEA:UniProtKB-UniPathway. DR CDD; cd01663; Cyt_c_Oxidase_I; 1. DR Gene3D; 1.20.210.10; -; 1. DR InterPro; IPR023616; Cyt_c_oxase-like_su1_dom. DR InterPro; IPR036927; Cyt_c_oxase-like_su1_sf. DR InterPro; IPR000883; Cyt_C_Oxase_1. DR InterPro; IPR023615; Cyt_c_Oxase_su1_BS. DR InterPro; IPR033944; Cyt_c_oxase_su1_dom. DR PANTHER; PTHR10422; PTHR10422; 1. DR Pfam; PF00115; COX1; 1. DR PRINTS; PR01165; CYCOXIDASEI. DR SUPFAM; SSF81442; SSF81442; 1. DR PROSITE; PS50855; COX1; 1. DR PROSITE; PS00077; COX1_CUB; 1. PE 3: Inferred from homology; KW Copper {ECO:0000256|RuleBase:RU000369, ECO:0000256|SAAS:SAAS00887236}; KW Electron transport {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711094}; KW Heme {ECO:0000256|RuleBase:RU000369, ECO:0000256|SAAS:SAAS00711161}; KW Iron {ECO:0000256|RuleBase:RU000369, ECO:0000256|SAAS:SAAS00711183}; KW Membrane {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711163, ECO:0000256|SAM:Phobius}; KW Metal-binding {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711155}; KW Mitochondrion {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711157, ECO:0000313|EMBL:BAE07443.1}; KW Mitochondrion inner membrane {ECO:0000256|RuleBase:RU000369}; KW Oxidoreductase {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711097}; KW Respiratory chain {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711106}; KW Transmembrane {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711093, ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|SAAS:SAAS00711122, KW ECO:0000256|SAM:Phobius}; KW Transport {ECO:0000256|RuleBase:RU000369, KW ECO:0000256|SAAS:SAAS00711099}. FT TRANSMEM 18 37 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 57 83 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 104 128 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 148 171 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 183 210 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 243 261 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 268 291 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 303 325 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 337 359 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 379 400 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 412 430 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 450 473 Helical. {ECO:0000256|SAM:Phobius}. FT DOMAIN 1 511 COX1. {ECO:0000259|PROSITE:PS50855}. SQ SEQUENCE 513 AA; 57071 MW; 766088D9F783F77C CRC64; MFADRWLFST NHKDIGTLYL LFGAWAGVLG TALSLLIRTE LGQPGNLLGN DHIYNVIVTA HAFVMIFFMV MPIMIGGFGN WLVPLMIGAP DMAFPRMNNM SFWLLPPSLL LLLASAMVEA GAGTGWTVYP PLAGNYSHPG ASVDLTIFSL HLAGVSSILG AINFITTIIN MKPPAMTQYQ TPLFVWSVLI TAVLLLLSLP VLAAGITMLL TDRNLNTTFF DPAGGGDPIL YQHLFWFFGH PEVYILILPG FGMISHIVTY YSGKKEPFGY MGMVWAMMSI GFLGFIVWAH HMFTVGMDVD TRAYFTSATM IIAIPTGVKV FSWLATLHGS NMKWSAAVLW ALGFIFLFTV GGLTGIVLAN SSLDIVLHDT YYVVAHFHYV LSMGAVFAIM GGFIHWFPLF SGYTLDQTYA KIHFTIMFIG VNLTFFPQHF LGLSGMPRRY SDYPDAYTTW NILSSVGSFI SLTAVMLMIF MIWEAFASKR KVLMVEEPSM NLEWLYGCPP PYHTFEEPVY MKS //