Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q96I36

- COX14_HUMAN

UniProt

Q96I36 - COX14_HUMAN

Protein

Cytochrome c oxidase assembly protein COX14

Gene

COX14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1.2 Publications

    GO - Biological processi

    1. mitochondrial respiratory chain complex IV assembly Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytochrome c oxidase assembly protein COX14
    Gene namesi
    Name:COX14
    Synonyms:C12orf62
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:28216. COX14.

    Subcellular locationi

    Mitochondrion membrane 2 Publications; Single-pass membrane protein 2 Publications

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial membrane Source: UniProtKB-SubCell
    3. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto-occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia.1 Publication

    Organism-specific databases

    Orphaneti254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBiPA143485391.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 5757Cytochrome c oxidase assembly protein COX14PRO_0000263677Add
    BLAST

    Proteomic databases

    MaxQBiQ96I36.
    PaxDbiQ96I36.
    PRIDEiQ96I36.

    PTM databases

    PhosphoSiteiQ96I36.

    Expressioni

    Gene expression databases

    BgeeiQ96I36.
    CleanExiHS_C12orf62.
    GenevestigatoriQ96I36.

    Organism-specific databases

    HPAiHPA044618.

    Interactioni

    Subunit structurei

    Component of some MITRAC complex.1 Publication

    Protein-protein interaction databases

    BioGridi124413. 4 interactions.
    IntActiQ96I36. 4 interactions.
    STRINGi9606.ENSP00000326052.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96I36.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3723HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG26035.
    HOGENOMiHOG000059541.
    HOVERGENiHBG081243.
    InParanoidiQ96I36.
    KOiK18181.
    OMAiASCENTR.
    OrthoDBiEOG7HXCV6.
    PhylomeDBiQ96I36.
    TreeFamiTF338398.

    Family and domain databases

    InterProiIPR029208. COX14.
    [Graphical view]
    PfamiPF14880. COX14. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96I36-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPTGKQLADI GYKTFSTSMM LLTVYGGYLC SVRVYHYFQW RRAQRQAAEE   50
    QKTSGIM 57
    Length:57
    Mass (Da):6,600
    Last modified:December 1, 2001 - v1
    Checksum:i974BBDFA78CF7C9A
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191M → I Found in a patient with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. 1 Publication
    VAR_067038

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK312180 mRNA. Translation: BAG35113.1.
    AC025154 Genomic DNA. No translation available.
    AC074032 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW58130.1.
    BC007849 mRNA. Translation: AAH07849.1.
    CCDSiCCDS8800.1.
    RefSeqiNP_001244062.1. NM_001257133.1.
    NP_001244063.1. NM_001257134.1.
    NP_116290.1. NM_032901.3.
    UniGeneiHs.388645.

    Genome annotation databases

    EnsembliENST00000317943; ENSP00000326052; ENSG00000178449.
    ENST00000548985; ENSP00000447776; ENSG00000178449.
    ENST00000550487; ENSP00000446524; ENSG00000178449.
    ENST00000550654; ENSP00000450331; ENSG00000178449.
    GeneIDi84987.
    KEGGihsa:84987.
    UCSCiuc001rwb.2. human.

    Polymorphism databases

    DMDMi74732019.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK312180 mRNA. Translation: BAG35113.1 .
    AC025154 Genomic DNA. No translation available.
    AC074032 Genomic DNA. No translation available.
    CH471111 Genomic DNA. Translation: EAW58130.1 .
    BC007849 mRNA. Translation: AAH07849.1 .
    CCDSi CCDS8800.1.
    RefSeqi NP_001244062.1. NM_001257133.1.
    NP_001244063.1. NM_001257134.1.
    NP_116290.1. NM_032901.3.
    UniGenei Hs.388645.

    3D structure databases

    ProteinModelPortali Q96I36.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124413. 4 interactions.
    IntActi Q96I36. 4 interactions.
    STRINGi 9606.ENSP00000326052.

    PTM databases

    PhosphoSitei Q96I36.

    Polymorphism databases

    DMDMi 74732019.

    Proteomic databases

    MaxQBi Q96I36.
    PaxDbi Q96I36.
    PRIDEi Q96I36.

    Protocols and materials databases

    DNASUi 84987.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317943 ; ENSP00000326052 ; ENSG00000178449 .
    ENST00000548985 ; ENSP00000447776 ; ENSG00000178449 .
    ENST00000550487 ; ENSP00000446524 ; ENSG00000178449 .
    ENST00000550654 ; ENSP00000450331 ; ENSG00000178449 .
    GeneIDi 84987.
    KEGGi hsa:84987.
    UCSCi uc001rwb.2. human.

    Organism-specific databases

    CTDi 84987.
    GeneCardsi GC12P050509.
    HGNCi HGNC:28216. COX14.
    HPAi HPA044618.
    MIMi 614478. gene.
    neXtProti NX_Q96I36.
    Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
    PharmGKBi PA143485391.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG26035.
    HOGENOMi HOG000059541.
    HOVERGENi HBG081243.
    InParanoidi Q96I36.
    KOi K18181.
    OMAi ASCENTR.
    OrthoDBi EOG7HXCV6.
    PhylomeDBi Q96I36.
    TreeFami TF338398.

    Miscellaneous databases

    GenomeRNAii 84987.
    NextBioi 75564.
    PROi Q96I36.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96I36.
    CleanExi HS_C12orf62.
    Genevestigatori Q96I36.

    Family and domain databases

    InterProi IPR029208. COX14.
    [Graphical view ]
    Pfami PF14880. COX14. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis."
      Weraarpachai W., Sasarman F., Nishimura T., Antonicka H., Aure K., Rotig A., Lombes A., Shoubridge E.A.
      Am. J. Hum. Genet. 90:142-151(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MITOCHONDRIAL DISORDER, VARIANT ILE-19, SUBCELLULAR LOCATION, FUNCTION.
    6. "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation."
      Mick D.U., Dennerlein S., Wiese H., Reinhold R., Pacheu-Grau D., Lorenzi I., Sasarman F., Weraarpachai W., Shoubridge E.A., Warscheid B., Rehling P.
      Cell 151:1528-1541(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN SOME MITRAC COMPLEX.
    7. "Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase."
      Szklarczyk R., Wanschers B.F., Cuypers T.D., Esseling J.J., Riemersma M., van den Brand M.A., Gloerich J., Lasonder E., van den Heuvel L.P., Nijtmans L.G., Huynen M.A.
      Genome Biol. 13:RESEARCH0012.1-RESEARCH0012.14(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCOX14_HUMAN
    AccessioniPrimary (citable) accession number: Q96I36
    Secondary accession number(s): B2R5G6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 12, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 78 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3