ID   COX14_HUMAN             Reviewed;          57 AA.
AC   Q96I36; B2R5G6;
DT   12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   24-JAN-2024, entry version 135.
DE   RecName: Full=Cytochrome c oxidase assembly protein COX14;
GN   Name=COX14; Synonyms=C12orf62;
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 [LARGE SCALE MRNA].
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16541075; DOI=10.1038/nature04569;
RA   Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA   Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA   Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA   Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA   Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA   Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA   Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA   Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA   Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA   Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA   Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA   Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA   Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA   Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA   Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA   Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA   Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA   David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA   D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA   Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA   Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA   Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA   LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA   Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA   Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA   Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA   Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA   Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA   Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA   Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA   Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA   Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA   Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA   Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA   Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA   Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA   Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA   Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA   Gibbs R.A.;
RT   "The finished DNA sequence of human chromosome 12.";
RL   Nature 440:346-351(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
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   [5]
RP   IDENTIFICATION IN SOME MITRAC COMPLEX.
RX   PubMed=23260140; DOI=10.1016/j.cell.2012.11.053;
RA   Mick D.U., Dennerlein S., Wiese H., Reinhold R., Pacheu-Grau D.,
RA   Lorenzi I., Sasarman F., Weraarpachai W., Shoubridge E.A., Warscheid B.,
RA   Rehling P.;
RT   "MITRAC links mitochondrial protein translocation to respiratory-chain
RT   assembly and translational regulation.";
RL   Cell 151:1528-1541(2012).
RN   [6]
RP   FUNCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=22356826; DOI=10.1186/gb-2012-13-2-r12;
RA   Szklarczyk R., Wanschers B.F., Cuypers T.D., Esseling J.J., Riemersma M.,
RA   van den Brand M.A., Gloerich J., Lasonder E., van den Heuvel L.P.,
RA   Nijtmans L.G., Huynen M.A.;
RT   "Iterative orthology prediction uncovers new mitochondrial proteins and
RT   identifies C12orf62 as the human ortholog of COX14, a protein involved in
RT   the assembly of cytochrome c oxidase.";
RL   Genome Biol. 13:RESEARCH0012.1-RESEARCH0012.14(2012).
RN   [7]
RP   SUBCELLULAR LOCATION, AND TOPOLOGY.
RX   PubMed=27184847; DOI=10.1016/j.celrep.2016.04.064;
RA   Lee S.Y., Kang M.G., Park J.S., Lee G., Ting A.Y., Rhee H.W.;
RT   "APEX Fingerprinting Reveals the Subcellular Localization of Proteins of
RT   Interest.";
RL   Cell Rep. 15:1837-1847(2016).
RN   [8]
RP   INVOLVEMENT IN MC4DN10, VARIANT MC4DN10 ILE-19, SUBCELLULAR LOCATION, AND
RP   FUNCTION.
RX   PubMed=22243966; DOI=10.1016/j.ajhg.2011.11.027;
RA   Weraarpachai W., Sasarman F., Nishimura T., Antonicka H., Aure K.,
RA   Rotig A., Lombes A., Shoubridge E.A.;
RT   "Mutations in C12orf62, a factor that couples COX I synthesis with
RT   cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis.";
RL   Am. J. Hum. Genet. 90:142-151(2012).
CC   -!- FUNCTION: Core component of the MITRAC (mitochondrial translation
CC       regulation assembly intermediate of cytochrome c oxidase complex)
CC       complex, that regulates cytochrome c oxidase assembly. Requires for
CC       coordination of the early steps of cytochrome c oxidase assembly with
CC       the synthesis of MT-CO1. {ECO:0000269|PubMed:22243966,
CC       ECO:0000269|PubMed:22356826}.
CC   -!- SUBUNIT: Along with COA3, core component of the MITRAC (mitochondrial
CC       translation regulation assembly intermediate of cytochrome c oxidase
CC       complex) complex. {ECO:0000269|PubMed:23260140}.
CC   -!- INTERACTION:
CC       Q96I36; Q14696: MESD; NbExp=3; IntAct=EBI-6570698, EBI-6165891;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane
CC       {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826,
CC       ECO:0000269|PubMed:27184847}; Single-pass membrane protein
CC       {ECO:0000255}.
CC   -!- DISEASE: Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10)
CC       [MIM:619053]: An autosomal recessive mitochondrial disorder that
CC       manifests with neonatal neurological and respiratory distress. Clinical
CC       features include facial dysmorphism, hypotelorism, microphthalmia, an
CC       ogival palate, and severe metabolic acidosis. Death occurs in early
CC       infancy. Autoptic examination reveals brain hypertrophy, diffuse
CC       alteration of white matter myelination, numerous cavities in the
CC       parieto-occipital region, brainstem and cerebellum, as well as
CC       hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and
CC       adrenal hyperplasia. Patient tissues show decreased levels and activity
CC       of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:22243966}.
CC       Note=The disease may be caused by variants affecting the gene
CC       represented in this entry.
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DR   EMBL; AK312180; BAG35113.1; -; mRNA.
DR   EMBL; AC025154; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC074032; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471111; EAW58130.1; -; Genomic_DNA.
DR   EMBL; BC007849; AAH07849.1; -; mRNA.
DR   CCDS; CCDS8800.1; -.
DR   RefSeq; NP_001244062.1; NM_001257133.1.
DR   RefSeq; NP_001244063.1; NM_001257134.1.
DR   RefSeq; NP_116290.1; NM_032901.3.
DR   AlphaFoldDB; Q96I36; -.
DR   BioGRID; 124413; 146.
DR   CORUM; Q96I36; -.
DR   IntAct; Q96I36; 143.
DR   STRING; 9606.ENSP00000326052; -.
DR   iPTMnet; Q96I36; -.
DR   PhosphoSitePlus; Q96I36; -.
DR   BioMuta; COX14; -.
DR   DMDM; 74732019; -.
DR   jPOST; Q96I36; -.
DR   MassIVE; Q96I36; -.
DR   MaxQB; Q96I36; -.
DR   PaxDb; 9606-ENSP00000446524; -.
DR   PeptideAtlas; Q96I36; -.
DR   ProteomicsDB; 76810; -.
DR   Pumba; Q96I36; -.
DR   TopDownProteomics; Q96I36; -.
DR   Antibodypedia; 49669; 11 antibodies from 6 providers.
DR   DNASU; 84987; -.
DR   Ensembl; ENST00000317943.6; ENSP00000326052.2; ENSG00000178449.9.
DR   Ensembl; ENST00000548985.1; ENSP00000447776.1; ENSG00000178449.9.
DR   Ensembl; ENST00000550487.6; ENSP00000446524.1; ENSG00000178449.9.
DR   Ensembl; ENST00000550654.1; ENSP00000450331.1; ENSG00000178449.9.
DR   GeneID; 84987; -.
DR   KEGG; hsa:84987; -.
DR   MANE-Select; ENST00000550487.6; ENSP00000446524.1; NM_032901.4; NP_116290.1.
DR   UCSC; uc001rwb.3; human.
DR   AGR; HGNC:28216; -.
DR   CTD; 84987; -.
DR   DisGeNET; 84987; -.
DR   GeneCards; COX14; -.
DR   HGNC; HGNC:28216; COX14.
DR   HPA; ENSG00000178449; Low tissue specificity.
DR   MalaCards; COX14; -.
DR   MIM; 614478; gene.
DR   MIM; 619053; phenotype.
DR   neXtProt; NX_Q96I36; -.
DR   OpenTargets; ENSG00000178449; -.
DR   Orphanet; 254905; Isolated cytochrome C oxidase deficiency.
DR   PharmGKB; PA143485391; -.
DR   VEuPathDB; HostDB:ENSG00000178449; -.
DR   eggNOG; ENOG502SCZ6; Eukaryota.
DR   GeneTree; ENSGT00390000002190; -.
DR   HOGENOM; CLU_209431_0_0_1; -.
DR   InParanoid; Q96I36; -.
DR   OMA; VYHYFQR; -.
DR   OrthoDB; 4007138at2759; -.
DR   PhylomeDB; Q96I36; -.
DR   TreeFam; TF338398; -.
DR   PathwayCommons; Q96I36; -.
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; Q96I36; -.
DR   SIGNOR; Q96I36; -.
DR   BioGRID-ORCS; 84987; 60 hits in 1150 CRISPR screens.
DR   ChiTaRS; COX14; human.
DR   GenomeRNAi; 84987; -.
DR   Pharos; Q96I36; Tbio.
DR   PRO; PR:Q96I36; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; Q96I36; Protein.
DR   Bgee; ENSG00000178449; Expressed in apex of heart and 185 other cell types or tissues.
DR   GO; GO:0005741; C:mitochondrial outer membrane; IDA:UniProtKB.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0033617; P:mitochondrial cytochrome c oxidase assembly; IMP:UniProtKB.
DR   InterPro; IPR029208; COX14.
DR   PANTHER; PTHR36684; CYTOCHROME C OXIDASE ASSEMBLY PROTEIN COX14; 1.
DR   PANTHER; PTHR36684:SF1; CYTOCHROME C OXIDASE ASSEMBLY PROTEIN COX14; 1.
DR   Pfam; PF14880; COX14; 1.
DR   Genevisible; Q96I36; HS.
PE   1: Evidence at protein level;
KW   Disease variant; Membrane; Mitochondrion; Mitochondrion outer membrane;
KW   Primary mitochondrial disease; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..57
FT                   /note="Cytochrome c oxidase assembly protein COX14"
FT                   /id="PRO_0000263677"
FT   TOPO_DOM        1..14
FT                   /note="Mitochondrial intermembrane"
FT                   /evidence="ECO:0000305|PubMed:27184847"
FT   TRANSMEM        15..37
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        38..57
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000305|PubMed:27184847"
FT   VARIANT         19
FT                   /note="M -> I (in MC4DN10; dbSNP:rs587776904)"
FT                   /evidence="ECO:0000269|PubMed:22243966"
FT                   /id="VAR_067038"
SQ   SEQUENCE   57 AA;  6600 MW;  974BBDFA78CF7C9A CRC64;
     MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE QKTSGIM
//