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COX18_HUMAN
ID   COX18_HUMAN             Reviewed;         333 AA.
AC   Q8N8Q8; Q2PB66; Q2PB67; Q2PB68; Q49B97; Q6IPP9;
DT   14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   03-AUG-2022, entry version 135.
DE   RecName: Full=Cytochrome c oxidase assembly protein COX18, mitochondrial;
DE            Short=COX18Hs;
DE   AltName: Full=Cytochrome c oxidase assembly protein 18;
DE   Flags: Precursor;
GN   Name=COX18; Synonyms=OXA1L2;
OS   Homo sapiens (Human).
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 [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND TOPOLOGY.
RX   PubMed=16212937; DOI=10.1016/j.bbrc.2005.09.127;
RA   Sacconi S., Trevisson E., Pistollato F., Baldoin M.C., Rezzonico R.,
RA   Bourget I., Desnuelle C., Tenconi R., Basso G., DiMauro S., Salviati L.;
RT   "hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase
RT   assembly.";
RL   Biochem. Biophys. Res. Commun. 337:832-839(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Teratocarcinoma;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
RC   TISSUE=Cerebellum;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 81-333 (ISOFORMS 1; 2 AND 3), AND FUNCTION.
RC   TISSUE=Skeletal muscle;
RX   PubMed=16911509; DOI=10.1111/j.1567-1364.2006.00083.x;
RA   Gaisne M., Bonnefoy N.;
RT   "The COX18 gene, involved in mitochondrial biogenesis, is functionally
RT   conserved and tightly regulated in humans and fission yeast.";
RL   FEMS Yeast Res. 6:869-882(2006).
RN   [5]
RP   IDENTIFICATION IN A COMPLEX WITH TMEM177; COA6; MT-CO2; COX20; SCO1 AND
RP   SCO2.
RX   PubMed=29154948; DOI=10.1016/j.bbamcr.2017.11.010;
RA   Lorenzi I., Oeljeklaus S., Aich A., Ronsoer C., Callegari S., Dudek J.,
RA   Warscheid B., Dennerlein S., Rehling P.;
RT   "The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.";
RL   Biochim. Biophys. Acta 1865:323-333(2017).
RN   [6]
RP   FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH MT-CO2 AND COX20.
RX   PubMed=28330871; DOI=10.1074/jbc.m117.778514;
RA   Bourens M., Barrientos A.;
RT   "Human mitochondrial cytochrome c oxidase assembly factor COX18 acts
RT   transiently as a membrane insertase within the subunit 2 maturation
RT   module.";
RL   J. Biol. Chem. 292:7774-7783(2017).
CC   -!- FUNCTION: Mitochondrial membrane insertase required for the
CC       translocation of the C-terminus of cytochrome c oxidase subunit II (MT-
CC       CO2/COX2) across the mitochondrial inner membrane. Plays a role in MT-
CC       CO2/COX2 maturation following the COX20-mediated stabilization of newly
CC       synthesized MT-CO2/COX2 protein and before the action of the
CC       metallochaperones SCO1/2. Essential for the assembly and stability of
CC       the mitochondrial respiratory chain complex IV (also known as
CC       cytochrome c oxidase). {ECO:0000269|PubMed:16911509,
CC       ECO:0000269|PubMed:28330871}.
CC   -!- SUBUNIT: Found in a complex with TMEM177, COA6, MT-CO2/COX2, COX20,
CC       SCO1 and SCO2 (PubMed:29154948). Interacts transiently with MT-CO2/COX2
CC       during its maturation (PubMed:28330871). Interacts with COX20 in a MT-
CC       CO2/COX2-dependent manner (PubMed:28330871).
CC       {ECO:0000269|PubMed:28330871, ECO:0000269|PubMed:29154948}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC       {ECO:0000269|PubMed:16212937, ECO:0000269|PubMed:28330871}; Multi-pass
CC       membrane protein {ECO:0000269|PubMed:16212937}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1; Synonyms=Hs1;
CC         IsoId=Q8N8Q8-1; Sequence=Displayed;
CC       Name=2; Synonyms=Hs2;
CC         IsoId=Q8N8Q8-2; Sequence=VSP_022312, VSP_022314;
CC       Name=3; Synonyms=Hs3;
CC         IsoId=Q8N8Q8-3; Sequence=VSP_022311, VSP_022315;
CC       Name=4;
CC         IsoId=Q8N8Q8-4; Sequence=VSP_022313, VSP_022316;
CC   -!- SIMILARITY: Belongs to the OXA1/ALB3/YidC family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH71812.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR   EMBL; AY957564; AAY35060.1; -; mRNA.
DR   EMBL; AY957565; AAY35061.1; -; mRNA.
DR   EMBL; AK096310; BAC04758.1; -; mRNA.
DR   EMBL; BC071812; AAH71812.1; ALT_SEQ; mRNA.
DR   EMBL; BC101684; AAI01685.1; -; mRNA.
DR   EMBL; AM055750; CAJ20055.1; -; mRNA.
DR   EMBL; AM055751; CAJ20056.1; -; mRNA.
DR   EMBL; AM055752; CAJ20057.1; -; mRNA.
DR   CCDS; CCDS3554.1; -. [Q8N8Q8-1]
DR   RefSeq; NP_001284662.1; NM_001297733.1.
DR   RefSeq; NP_001287658.1; NM_001300729.1.
DR   RefSeq; NP_776188.1; NM_173827.3. [Q8N8Q8-1]
DR   AlphaFoldDB; Q8N8Q8; -.
DR   BioGRID; 130132; 8.
DR   IntAct; Q8N8Q8; 1.
DR   STRING; 9606.ENSP00000425261; -.
DR   TCDB; 2.A.9.1.3; the membrane protein insertase (yidc/alb3/oxa1) family.
DR   iPTMnet; Q8N8Q8; -.
DR   PhosphoSitePlus; Q8N8Q8; -.
DR   BioMuta; COX18; -.
DR   DMDM; 38372495; -.
DR   EPD; Q8N8Q8; -.
DR   jPOST; Q8N8Q8; -.
DR   MassIVE; Q8N8Q8; -.
DR   MaxQB; Q8N8Q8; -.
DR   PaxDb; Q8N8Q8; -.
DR   PeptideAtlas; Q8N8Q8; -.
DR   PRIDE; Q8N8Q8; -.
DR   ProteomicsDB; 72449; -. [Q8N8Q8-1]
DR   ProteomicsDB; 72450; -. [Q8N8Q8-2]
DR   ProteomicsDB; 72451; -. [Q8N8Q8-3]
DR   ProteomicsDB; 72452; -. [Q8N8Q8-4]
DR   Antibodypedia; 44370; 87 antibodies from 20 providers.
DR   DNASU; 285521; -.
DR   Ensembl; ENST00000295890.8; ENSP00000295890.4; ENSG00000163626.17. [Q8N8Q8-1]
DR   Ensembl; ENST00000449739.6; ENSP00000394583.2; ENSG00000163626.17. [Q8N8Q8-3]
DR   Ensembl; ENST00000510031.1; ENSP00000424978.1; ENSG00000163626.17. [Q8N8Q8-2]
DR   GeneID; 285521; -.
DR   KEGG; hsa:285521; -.
DR   UCSC; uc003hgm.2; human. [Q8N8Q8-1]
DR   CTD; 285521; -.
DR   DisGeNET; 285521; -.
DR   GeneCards; COX18; -.
DR   HGNC; HGNC:26801; COX18.
DR   HPA; ENSG00000163626; Low tissue specificity.
DR   MIM; 610428; gene.
DR   neXtProt; NX_Q8N8Q8; -.
DR   OpenTargets; ENSG00000163626; -.
DR   PharmGKB; PA145008543; -.
DR   VEuPathDB; HostDB:ENSG00000163626; -.
DR   eggNOG; KOG1239; Eukaryota.
DR   GeneTree; ENSGT00530000063506; -.
DR   HOGENOM; CLU_2003161_0_0_1; -.
DR   InParanoid; Q8N8Q8; -.
DR   OrthoDB; 1314061at2759; -.
DR   PhylomeDB; Q8N8Q8; -.
DR   TreeFam; TF323948; -.
DR   PathwayCommons; Q8N8Q8; -.
DR   Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR   Reactome; R-HSA-611105; Respiratory electron transport.
DR   Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR   SignaLink; Q8N8Q8; -.
DR   BioGRID-ORCS; 285521; 112 hits in 1079 CRISPR screens.
DR   ChiTaRS; COX18; human.
DR   GenomeRNAi; 285521; -.
DR   Pharos; Q8N8Q8; Tbio.
DR   PRO; PR:Q8N8Q8; -.
DR   Proteomes; UP000005640; Chromosome 4.
DR   RNAct; Q8N8Q8; protein.
DR   Bgee; ENSG00000163626; Expressed in tibia and 186 other tissues.
DR   ExpressionAtlas; Q8N8Q8; baseline and differential.
DR   Genevisible; Q8N8Q8; HS.
DR   GO; GO:0031305; C:integral component of mitochondrial inner membrane; IDA:UniProtKB.
DR   GO; GO:0032977; F:membrane insertase activity; IDA:UniProtKB.
DR   GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IMP:UniProtKB.
DR   GO; GO:0051205; P:protein insertion into membrane; IBA:GO_Central.
DR   GO; GO:0032979; P:protein insertion into mitochondrial inner membrane from matrix; IDA:UniProtKB.
DR   GO; GO:0051204; P:protein insertion into mitochondrial membrane; IGI:UniProtKB.
DR   GO; GO:0008535; P:respiratory chain complex IV assembly; IGI:UniProtKB.
DR   InterPro; IPR001708; YidC/ALB3/OXA1/COX18.
DR   PANTHER; PTHR12428; PTHR12428; 1.
DR   Pfam; PF02096; 60KD_IMP; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Membrane; Mitochondrion;
KW   Mitochondrion inner membrane; Reference proteome; Transit peptide;
KW   Transmembrane; Transmembrane helix.
FT   TRANSIT         1..?
FT                   /note="Mitochondrion"
FT                   /evidence="ECO:0000255"
FT   CHAIN           ?..333
FT                   /note="Cytochrome c oxidase assembly protein COX18,
FT                   mitochondrial"
FT                   /id="PRO_0000020354"
FT   TOPO_DOM        ?..167
FT                   /note="Mitochondrial intermembrane"
FT                   /evidence="ECO:0000305|PubMed:16212937"
FT   TRANSMEM        168..188
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        189..223
FT                   /note="Mitochondrial matrix"
FT                   /evidence="ECO:0000305|PubMed:16212937"
FT   TRANSMEM        224..244
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        245..262
FT                   /note="Mitochondrial intermembrane"
FT                   /evidence="ECO:0000305|PubMed:16212937"
FT   TRANSMEM        263..283
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        284..333
FT                   /note="Mitochondrial matrix"
FT                   /evidence="ECO:0000305|PubMed:16212937"
FT   VAR_SEQ         112..129
FT                   /note="VENLQPEIKTIARHLNQE -> AHLSKEYEEANFRAICAR (in isoform
FT                   3)"
FT                   /evidence="ECO:0000303|PubMed:16911509"
FT                   /id="VSP_022311"
FT   VAR_SEQ         112..127
FT                   /note="VENLQPEIKTIARHLN -> LGGKFAARNKNYCQAS (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16911509"
FT                   /id="VSP_022312"
FT   VAR_SEQ         113..147
FT                   /note="ENLQPEIKTIARHLNQEVAVRANQLGWSKRDARLT -> VSMGKKNRKQNRN
FT                   GISSNIKAVSHFTGRMSTGQEQ (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022313"
FT   VAR_SEQ         128..333
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16911509"
FT                   /id="VSP_022314"
FT   VAR_SEQ         130..333
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:16911509"
FT                   /id="VSP_022315"
FT   VAR_SEQ         148..333
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022316"
FT   CONFLICT        311
FT                   /note="K -> R (in Ref. 4; CAJ20055)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   333 AA;  37063 MW;  4F2C18C7E78C08EE CRC64;
     MLCRLGGRWL RPLPALQLWA RDLPLAPVPT SGAKRPTLPV WAVAPVSAVH ANGWYEALAA
     SSPVRVAEEV LLGVHAATGL PWWGSILLST VALRGAVTLP LAAYQHYILA KVENLQPEIK
     TIARHLNQEV AVRANQLGWS KRDARLTYLK NMRRLISELY VRDNCHPFKA TVLVWIQLPM
     WIFMSFALRN LSTGAAHSEG FSVQEQLATG GILWFPDLTA PDSTWILPIS VGVINLLIVE
     ICALQKIGMS RFQTYITYFV RAMSVLMIPI AATVPSSIVL YWLCSSFVGL SQNLLLRSPG
     FRQLCRIPST KSDSETPYKD IFAAFNTKFI SRK
 
 
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