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Q99807

- COQ7_HUMAN

UniProt

Q99807 - COQ7_HUMAN

Protein

Ubiquinone biosynthesis protein COQ7 homolog

Gene

COQ7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Involved in lifespan determination in ubiquinone-independent manner. Involved in ubiquinone biosynthesis. Potential central metabolic regulator By similarity.By similarity

    Cofactori

    Binds 2 iron ions per subunit.By similarity

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi60 – 601Iron 1By similarity
    Metal bindingi90 – 901Iron 1By similarity
    Metal bindingi90 – 901Iron 2By similarity
    Metal bindingi93 – 931Iron 1By similarity
    Metal bindingi142 – 1421Iron 2By similarity
    Metal bindingi178 – 1781Iron 1By similarity
    Metal bindingi178 – 1781Iron 2By similarity
    Metal bindingi181 – 1811Iron 2By similarity

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. age-dependent response to oxidative stress Source: Ensembl
    2. cellular response to oxidative stress Source: Ensembl
    3. determination of adult lifespan Source: Ensembl
    4. in utero embryonic development Source: Ensembl
    5. mitochondrial ATP synthesis coupled electron transport Source: Ensembl
    6. mitochondrion morphogenesis Source: Ensembl
    7. neural tube formation Source: Ensembl
    8. neurogenesis Source: Ensembl
    9. small molecule metabolic process Source: Reactome
    10. ubiquinone biosynthetic process Source: Reactome

    Keywords - Biological processi

    Ubiquinone biosynthesis

    Keywords - Ligandi

    Iron, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000167186-MONOMER.
    ReactomeiREACT_160111. Ubiquinol biosynthesis.
    UniPathwayiUPA00232.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ubiquinone biosynthesis protein COQ7 homolog
    Alternative name(s):
    Coenzyme Q biosynthesis protein 7 homolog
    Timing protein clk-1 homolog
    Gene namesi
    Name:COQ7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:2244. COQ7.

    Subcellular locationi

    Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Note: Synthesized as a preprotein that is imported into the mitochondrial matrix, where the sequence is cleaved off and the mature protein becomes loosely associated with the inner membrane.By similarity

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: UniProtKB-SubCell
    2. nucleus Source: LIFEdb

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA26761.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3636MitochondrionSequence AnalysisAdd
    BLAST
    Chaini37 – 217181Ubiquinone biosynthesis protein COQ7 homologPRO_0000079251Add
    BLAST

    Proteomic databases

    MaxQBiQ99807.
    PaxDbiQ99807.
    PRIDEiQ99807.

    PTM databases

    PhosphoSiteiQ99807.

    Expressioni

    Tissue specificityi

    Expressed dominantly in heart and skeletal muscle.

    Gene expression databases

    ArrayExpressiQ99807.
    BgeeiQ99807.
    CleanExiHS_COQ7.
    GenevestigatoriQ99807.

    Interactioni

    Subunit structurei

    Interacts with ADCK4 and COQ6.1 Publication

    Protein-protein interaction databases

    BioGridi115523. 1 interaction.
    STRINGi9606.ENSP00000322316.

    Structurei

    3D structure databases

    ProteinModelPortaliQ99807.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati48 – 129821Add
    BLAST
    Repeati130 – 217882Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni48 – 2171702 X approximate tandem repeatsAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 96Poly-Ala

    Sequence similaritiesi

    Belongs to the COQ7 family.Curated

    Keywords - Domaini

    Repeat, Transit peptide

    Phylogenomic databases

    eggNOGiCOG2941.
    HOGENOMiHOG000184972.
    HOVERGENiHBG002214.
    InParanoidiQ99807.
    KOiK06134.
    OMAiVGSMAFD.
    OrthoDBiEOG73BVF0.
    PhylomeDBiQ99807.
    TreeFamiTF314559.

    Family and domain databases

    Gene3Di1.20.1260.10. 1 hit.
    InterProiIPR009078. Ferritin-like_SF.
    IPR012347. Ferritin-rel.
    IPR011566. Ubq_synth_Coq7.
    [Graphical view]
    PANTHERiPTHR11237. PTHR11237. 1 hit.
    PfamiPF03232. COQ7. 1 hit.
    [Graphical view]
    SUPFAMiSSF47240. SSF47240. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q99807-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSCAGAAAAP RLWRLRPGAR RSLSAYGRRT SVRFRSSGMT LDNISRAAVD    50
    RIIRVDHAGE YGANRIYAGQ MAVLGRTSVG PVIQKMWDQE KDHLKKFNEL 100
    MVTFRVRPTV LMPLWNVLGF ALGAGTALLG KEGAMACTVA VEESIAHHYN 150
    NQIRTLMEED PEKYEELLQL IKKFRDEELE HHDIGLDHDA ELAPAYAVLK 200
    SIIQAGCRVA IYLSERL 217
    Length:217
    Mass (Da):24,277
    Last modified:November 2, 2010 - v3
    Checksum:i37BEC3CEA621B77B
    GO
    Isoform 2 (identifier: Q99807-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: Missing.

    Show »
    Length:179
    Mass (Da):20,158
    Checksum:i9F9453EA670261DA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti45 – 451S → N in AAC69451. (PubMed:10501970)Curated
    Sequence conflicti69 – 691G → W in CAB66582. (PubMed:11230166)Curated
    Sequence conflicti72 – 721A → R in AAC69451. (PubMed:10501970)Curated
    Sequence conflicti172 – 1721K → R in AAC69451. (PubMed:10501970)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti103 – 1031T → M.5 Publications
    Corresponds to variant rs11074359 [ dbSNP | Ensembl ].
    VAR_055148

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3838Missing in isoform 2. 1 PublicationVSP_039068Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF098948 mRNA. Translation: AAD43648.1.
    AL136647 mRNA. Translation: CAB66582.1.
    AK024291 mRNA. Translation: BAB14876.1.
    AK315470 mRNA. Translation: BAG37856.1.
    AC099518 Genomic DNA. No translation available.
    CH471186 Genomic DNA. Translation: EAW50268.1.
    BC003185 mRNA. Translation: AAH03185.1.
    AF032900 mRNA. Translation: AAC69451.1.
    U81276 mRNA. Translation: AAC51120.1.
    CCDSiCCDS10574.1. [Q99807-1]
    CCDS53993.1. [Q99807-2]
    RefSeqiNP_001177912.1. NM_001190983.1. [Q99807-2]
    NP_057222.2. NM_016138.4. [Q99807-1]
    UniGeneiHs.157113.

    Genome annotation databases

    EnsembliENST00000321998; ENSP00000322316; ENSG00000167186. [Q99807-1]
    ENST00000544894; ENSP00000442923; ENSG00000167186. [Q99807-2]
    ENST00000568985; ENSP00000456734; ENSG00000167186. [Q99807-1]
    GeneIDi10229.
    KEGGihsa:10229.
    UCSCiuc002dfr.3. human. [Q99807-1]

    Polymorphism databases

    DMDMi311033465.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF098948 mRNA. Translation: AAD43648.1 .
    AL136647 mRNA. Translation: CAB66582.1 .
    AK024291 mRNA. Translation: BAB14876.1 .
    AK315470 mRNA. Translation: BAG37856.1 .
    AC099518 Genomic DNA. No translation available.
    CH471186 Genomic DNA. Translation: EAW50268.1 .
    BC003185 mRNA. Translation: AAH03185.1 .
    AF032900 mRNA. Translation: AAC69451.1 .
    U81276 mRNA. Translation: AAC51120.1 .
    CCDSi CCDS10574.1. [Q99807-1 ]
    CCDS53993.1. [Q99807-2 ]
    RefSeqi NP_001177912.1. NM_001190983.1. [Q99807-2 ]
    NP_057222.2. NM_016138.4. [Q99807-1 ]
    UniGenei Hs.157113.

    3D structure databases

    ProteinModelPortali Q99807.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115523. 1 interaction.
    STRINGi 9606.ENSP00000322316.

    PTM databases

    PhosphoSitei Q99807.

    Polymorphism databases

    DMDMi 311033465.

    Proteomic databases

    MaxQBi Q99807.
    PaxDbi Q99807.
    PRIDEi Q99807.

    Protocols and materials databases

    DNASUi 10229.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321998 ; ENSP00000322316 ; ENSG00000167186 . [Q99807-1 ]
    ENST00000544894 ; ENSP00000442923 ; ENSG00000167186 . [Q99807-2 ]
    ENST00000568985 ; ENSP00000456734 ; ENSG00000167186 . [Q99807-1 ]
    GeneIDi 10229.
    KEGGi hsa:10229.
    UCSCi uc002dfr.3. human. [Q99807-1 ]

    Organism-specific databases

    CTDi 10229.
    GeneCardsi GC16P019078.
    H-InvDB HIX0202253.
    HGNCi HGNC:2244. COQ7.
    MIMi 601683. gene.
    neXtProti NX_Q99807.
    PharmGKBi PA26761.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2941.
    HOGENOMi HOG000184972.
    HOVERGENi HBG002214.
    InParanoidi Q99807.
    KOi K06134.
    OMAi VGSMAFD.
    OrthoDBi EOG73BVF0.
    PhylomeDBi Q99807.
    TreeFami TF314559.

    Enzyme and pathway databases

    UniPathwayi UPA00232 .
    BioCyci MetaCyc:ENSG00000167186-MONOMER.
    Reactomei REACT_160111. Ubiquinol biosynthesis.

    Miscellaneous databases

    GeneWikii COQ7.
    GenomeRNAii 10229.
    NextBioi 38733.
    PROi Q99807.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q99807.
    Bgeei Q99807.
    CleanExi HS_COQ7.
    Genevestigatori Q99807.

    Family and domain databases

    Gene3Di 1.20.1260.10. 1 hit.
    InterProi IPR009078. Ferritin-like_SF.
    IPR012347. Ferritin-rel.
    IPR011566. Ubq_synth_Coq7.
    [Graphical view ]
    PANTHERi PTHR11237. PTHR11237. 1 hit.
    Pfami PF03232. COQ7. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47240. SSF47240. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human."
      Asaumi S., Kuroyanagi H., Seki N., Shirasawa T.
      Genomics 58:293-301(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-103.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-103.
      Tissue: Brain.
    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] (ISOFORM 1), VARIANT MET-103.
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. 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] (ISOFORM 1).
      Tissue: Brain.
    7. "Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging."
      Vajo Z., King L.M., Jonassen T., Wilkin D.J., Ho N., Munnich A., Clarke C.F., Francomano C.A.
      Mamm. Genome 10:1000-1004(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-217 (ISOFORMS 1/2), VARIANT MET-103.
    8. "Structural and functional conservation of the Caenorhabditis elegans timing gene clk-1."
      Ewbank J.J., Barnes T.M., Lakowski B., Lussier M., Bussey H., Hekimi S.
      Science 275:980-983(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-130 (ISOFORMS 1/2), VARIANT MET-103.
      Tissue: Placenta.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: INTERACTION WITH ADCK4 AND COQ6.

    Entry informationi

    Entry nameiCOQ7_HUMAN
    AccessioniPrimary (citable) accession number: Q99807
    Secondary accession number(s): B2RDA9
    , Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 134 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 16
      Human chromosome 16: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3