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Q12887

- COX10_HUMAN

UniProt

Q12887 - COX10_HUMAN

Protein

Protoheme IX farnesyltransferase, mitochondrial

Gene

COX10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 3 (23 Mar 2010)
      Previous versions | rss
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    Functioni

    Converts protoheme IX and farnesyl diphosphate to heme O.By similarity

    GO - Molecular functioni

    1. farnesyltranstransferase activity Source: ProtInc
    2. protoheme IX farnesyltransferase activity Source: InterPro

    GO - Biological processi

    1. aerobic respiration Source: Ensembl
    2. cellular respiration Source: HGNC
    3. heme a biosynthetic process Source: HGNC
    4. heme biosynthetic process Source: Reactome
    5. heme O biosynthetic process Source: InterPro
    6. hydrogen ion transmembrane transport Source: GOC
    7. mitochondrial electron transport, cytochrome c to oxygen Source: HGNC
    8. mitochondrial fission Source: Ensembl
    9. porphyrin-containing compound metabolic process Source: Reactome
    10. respiratory chain complex IV assembly Source: HGNC
    11. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Transferase

    Keywords - Biological processi

    Heme biosynthesis

    Enzyme and pathway databases

    ReactomeiREACT_9465. Heme biosynthesis.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protoheme IX farnesyltransferase, mitochondrial (EC:2.5.1.-)
    Alternative name(s):
    Heme O synthase
    Gene namesi
    Name:COX10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:2260. COX10.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: Reactome
    3. mitochondrion Source: HGNC

    Keywords - Cellular componenti

    Membrane, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti196 – 1961T → K in MT-C4D. 1 Publication
    VAR_026562
    Natural varianti204 – 2041N → K in MT-C4D. 1 Publication
    VAR_026563
    Natural varianti225 – 2251P → L in MT-C4D. 1 Publication
    Corresponds to variant rs104894556 [ dbSNP | Ensembl ].
    VAR_026564
    Natural varianti336 – 3361D → G in MT-C4D; associated with Leigh syndrome. 1 Publication
    VAR_026565
    Natural varianti336 – 3361D → V in MT-C4D; associated with Leigh syndrome. 1 Publication
    VAR_026566
    Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Leigh syndrome

    Organism-specific databases

    MIMi220110. phenotype.
    256000. phenotype.
    Orphaneti1561. Fatal infantile cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBiPA26776.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini? – 443Protoheme IX farnesyltransferase, mitochondrialPRO_0000035923
    Transit peptidei1 – ?MitochondrionSequence Analysis

    Proteomic databases

    MaxQBiQ12887.
    PaxDbiQ12887.
    PRIDEiQ12887.

    PTM databases

    PhosphoSiteiQ12887.

    Expressioni

    Gene expression databases

    ArrayExpressiQ12887.
    BgeeiQ12887.
    CleanExiHS_COX10.
    GenevestigatoriQ12887.

    Organism-specific databases

    HPAiHPA032005.
    HPA032006.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000261643.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12887.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei174 – 19421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei235 – 25521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei257 – 27721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei280 – 30021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei309 – 32921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei364 – 38421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei411 – 43121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UbiA prenyltransferase family.Curated

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0109.
    HOGENOMiHOG000189335.
    HOVERGENiHBG051084.
    InParanoidiQ12887.
    KOiK02257.
    OMAiPFDSQMS.
    PhylomeDBiQ12887.
    TreeFamiTF105071.

    Family and domain databases

    HAMAPiMF_00154. CyoE_CtaB.
    InterProiIPR006369. Protohaem_IX_farnesylTrfase.
    IPR016315. Protohaem_IX_farnesylTrfase_mt.
    IPR000537. UbiA_prenyltransferase.
    [Graphical view]
    PfamiPF01040. UbiA. 1 hit.
    [Graphical view]
    PIRSFiPIRSF001773. COX10. 1 hit.
    TIGRFAMsiTIGR01473. cyoE_ctaB. 1 hit.
    PROSITEiPS00943. UBIA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q12887-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF    50
    QHFSFLKRMY VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR 100
    PLSPPSLSLS RKPNEKELIE LEPDSVIEDS IDVGKETKEE KRWKEMKLQV 150
    YDLPGILARL SKIKLTALVV STTAAGFALA PGPFDWPCFL LTSVGTGLAS 200
    CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA TCCAVPGVAI 250
    LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW 300
    TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP 350
    GLCRRVALRH CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY 400
    VDADRRSSRR LFFCSLWHLP LLLLLMLTCK RPSGGGDAGP PPS 443
    Length:443
    Mass (Da):48,910
    Last modified:March 23, 2010 - v3
    Checksum:iEC39E8D8966F4094
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti303 – 3031A → T in AAA21148. (PubMed:8078902)Curated
    Sequence conflicti394 – 3941Y → H in AAA21148. (PubMed:8078902)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281T → I.
    Corresponds to variant rs16948978 [ dbSNP | Ensembl ].
    VAR_057371
    Natural varianti62 – 621T → S.
    Corresponds to variant rs2230351 [ dbSNP | Ensembl ].
    VAR_057372
    Natural varianti97 – 971Y → C.
    Corresponds to variant rs16948986 [ dbSNP | Ensembl ].
    VAR_057373
    Natural varianti159 – 1591R → Q.5 Publications
    Corresponds to variant rs8077302 [ dbSNP | Ensembl ].
    VAR_060233
    Natural varianti196 – 1961T → K in MT-C4D. 1 Publication
    VAR_026562
    Natural varianti204 – 2041N → K in MT-C4D. 1 Publication
    VAR_026563
    Natural varianti225 – 2251P → L in MT-C4D. 1 Publication
    Corresponds to variant rs104894556 [ dbSNP | Ensembl ].
    VAR_026564
    Natural varianti258 – 2581L → H.1 Publication
    VAR_064768
    Natural varianti336 – 3361D → G in MT-C4D; associated with Leigh syndrome. 1 Publication
    VAR_026565
    Natural varianti336 – 3361D → V in MT-C4D; associated with Leigh syndrome. 1 Publication
    VAR_026566
    Natural varianti340 – 3401G → D.1 Publication
    Corresponds to variant rs1050214 [ dbSNP | Ensembl ].
    VAR_060234

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U09466 mRNA. Translation: AAA21148.1.
    U82010
    , U82004, U82005, U82006, U82007, U82008, U82009 Genomic DNA. Translation: AAC51330.1.
    AK312718 mRNA. Translation: BAG35592.1.
    BT006985 mRNA. Translation: AAP35631.1.
    AC005224 Genomic DNA. No translation available.
    AC005389 Genomic DNA. No translation available.
    BC000060 mRNA. Translation: AAH00060.1.
    BC006394 mRNA. Translation: AAH06394.1.
    CCDSiCCDS11166.1.
    PIRiI38603.
    RefSeqiNP_001294.2. NM_001303.3.
    UniGeneiHs.462278.

    Genome annotation databases

    EnsembliENST00000261643; ENSP00000261643; ENSG00000006695.
    GeneIDi1352.
    KEGGihsa:1352.
    UCSCiuc002gof.4. human.

    Polymorphism databases

    DMDMi292495084.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U09466 mRNA. Translation: AAA21148.1 .
    U82010
    , U82004 , U82005 , U82006 , U82007 , U82008 , U82009 Genomic DNA. Translation: AAC51330.1 .
    AK312718 mRNA. Translation: BAG35592.1 .
    BT006985 mRNA. Translation: AAP35631.1 .
    AC005224 Genomic DNA. No translation available.
    AC005389 Genomic DNA. No translation available.
    BC000060 mRNA. Translation: AAH00060.1 .
    BC006394 mRNA. Translation: AAH06394.1 .
    CCDSi CCDS11166.1.
    PIRi I38603.
    RefSeqi NP_001294.2. NM_001303.3.
    UniGenei Hs.462278.

    3D structure databases

    ProteinModelPortali Q12887.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000261643.

    PTM databases

    PhosphoSitei Q12887.

    Polymorphism databases

    DMDMi 292495084.

    Proteomic databases

    MaxQBi Q12887.
    PaxDbi Q12887.
    PRIDEi Q12887.

    Protocols and materials databases

    DNASUi 1352.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261643 ; ENSP00000261643 ; ENSG00000006695 .
    GeneIDi 1352.
    KEGGi hsa:1352.
    UCSCi uc002gof.4. human.

    Organism-specific databases

    CTDi 1352.
    GeneCardsi GC17P013972.
    H-InvDB HIX0013550.
    HGNCi HGNC:2260. COX10.
    HPAi HPA032005.
    HPA032006.
    MIMi 220110. phenotype.
    256000. phenotype.
    602125. gene.
    neXtProti NX_Q12887.
    Orphaneti 1561. Fatal infantile cytochrome C oxidase deficiency.
    70474. Leigh syndrome with cardiomyopathy.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBi PA26776.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0109.
    HOGENOMi HOG000189335.
    HOVERGENi HBG051084.
    InParanoidi Q12887.
    KOi K02257.
    OMAi PFDSQMS.
    PhylomeDBi Q12887.
    TreeFami TF105071.

    Enzyme and pathway databases

    Reactomei REACT_9465. Heme biosynthesis.

    Miscellaneous databases

    GeneWikii COX10.
    GenomeRNAii 1352.
    NextBioi 5479.
    PROi Q12887.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12887.
    Bgeei Q12887.
    CleanExi HS_COX10.
    Genevestigatori Q12887.

    Family and domain databases

    HAMAPi MF_00154. CyoE_CtaB.
    InterProi IPR006369. Protohaem_IX_farnesylTrfase.
    IPR016315. Protohaem_IX_farnesylTrfase_mt.
    IPR000537. UbiA_prenyltransferase.
    [Graphical view ]
    Pfami PF01040. UbiA. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF001773. COX10. 1 hit.
    TIGRFAMsi TIGR01473. cyoE_ctaB. 1 hit.
    PROSITEi PS00943. UBIA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant."
      Glerum M.D., Tzagoloff A.
      Proc. Natl. Acad. Sci. U.S.A. 91:8452-8456(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLN-159 AND ASP-340.
    2. "Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene."
      Murakami T., Reiter L.T., Lupski J.R.
      Genomics 42:161-164(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-159.
    3. "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], VARIANT GLN-159.
      Tissue: Brain.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-159.
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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], VARIANT GLN-159.
      Tissue: Brain.
    7. "A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency."
      Valnot I., von Kleist-Retzow J.C., Barrientos A., Gorbatyuk M., Taanman J.W., Mehaye B., Rustin P., Tzagoloff A., Munnich A., Rotig A.
      Hum. Mol. Genet. 9:1245-1249(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MT-C4D LYS-204.
    8. "Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency."
      Antonicka H., Leary S.C., Guercin G.-H., Agar J.N., Horvath R., Kennaway N.G., Harding C.O., Jaksch M., Shoubridge E.A.
      Hum. Mol. Genet. 12:2693-2702(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MT-C4D LYS-196; LEU-225; GLY-336 AND VAL-336.
    9. Cited for: VARIANT HIS-258.

    Entry informationi

    Entry nameiCOX10_HUMAN
    AccessioniPrimary (citable) accession number: Q12887
    Secondary accession number(s): B2R6U5, O15334, Q969F7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: March 23, 2010
    Last modified: October 1, 2014
    This is version 136 of the entry and version 3 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 17
      Human chromosome 17: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3