COX14_HUMAN
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 03-AUG-2022, entry version 129.
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 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).
RN [6]
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 [7]
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).
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 membrane
CC {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826}; Single-pass
CC membrane protein {ECO:0000269|PubMed:22243966,
CC ECO:0000269|PubMed:22356826}.
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.ENSP00000446524; -.
DR iPTMnet; Q96I36; -.
DR PhosphoSitePlus; Q96I36; -.
DR BioMuta; COX14; -.
DR DMDM; 74732019; -.
DR jPOST; Q96I36; -.
DR MassIVE; Q96I36; -.
DR MaxQB; Q96I36; -.
DR PaxDb; Q96I36; -.
DR PeptideAtlas; Q96I36; -.
DR PRIDE; Q96I36; -.
DR ProteomicsDB; 76810; -.
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 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; 1641370at2759; -.
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 BioGRID-ORCS; 84987; 45 hits in 1071 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 183 other tissues.
DR Genevisible; Q96I36; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031966; C:mitochondrial membrane; IEA:UniProtKB-SubCell.
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; PTHR36684; 1.
DR Pfam; PF14880; COX14; 1.
PE 1: Evidence at protein level;
KW Disease variant; Membrane; Mitochondrion; Primary mitochondrial disease;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..57
FT /note="Cytochrome c oxidase assembly protein COX14"
FT /id="PRO_0000263677"
FT TRANSMEM 15..37
FT /note="Helical"
FT /evidence="ECO:0000255"
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
