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O75208

- COQ9_HUMAN

UniProt

O75208 - COQ9_HUMAN

Protein

Ubiquinone biosynthesis protein COQ9, mitochondrial

Gene

COQ9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Involved in the biosynthesis of coenzyme Q.By similarity

    Pathwayi

    GO - Biological processi

    1. mitochondrial electron transport, NADH to ubiquinone Source: Ensembl
    2. ubiquinone biosynthetic process Source: UniProtKB-UniPathway

    Keywords - Biological processi

    Ubiquinone biosynthesis

    Enzyme and pathway databases

    UniPathwayiUPA00232.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ubiquinone biosynthesis protein COQ9, mitochondrial
    Gene namesi
    Name:COQ9
    Synonyms:C16orf49
    ORF Names:HSPC326, PSEC0129
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:25302. COQ9.

    Subcellular locationi

    Mitochondrion By similarity

    GO - Cellular componenti

    1. mitochondrion Source: UniProt

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi614654. phenotype.
    Orphaneti319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
    PharmGKBiPA142672085.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4444MitochondrionSequence AnalysisAdd
    BLAST
    Chaini45 – 318274Ubiquinone biosynthesis protein COQ9, mitochondrialPRO_0000228637Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei175 – 1751N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO75208.
    PaxDbiO75208.
    PRIDEiO75208.

    PTM databases

    PhosphoSiteiO75208.

    Expressioni

    Gene expression databases

    ArrayExpressiO75208.
    BgeeiO75208.
    CleanExiHS_COQ9.
    GenevestigatoriO75208.

    Organism-specific databases

    HPAiHPA040918.

    Interactioni

    Protein-protein interaction databases

    BioGridi121326. 1 interaction.
    IntActiO75208. 2 interactions.
    MINTiMINT-1419260.
    STRINGi9606.ENSP00000262507.

    Structurei

    3D structure databases

    ProteinModelPortaliO75208.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the COQ9 family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG5590.
    HOVERGENiHBG079760.
    InParanoidiO75208.
    OMAiEIMENGH.
    OrthoDBiEOG75B85W.
    PhylomeDBiO75208.
    TreeFamiTF324653.

    Family and domain databases

    InterProiIPR013718. COQ9.
    IPR012762. Ubiq_biosynth_COQ9.
    [Graphical view]
    PfamiPF08511. COQ9. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR02396. diverge_rpsU. 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: O75208-1) [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

    MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ    50
    KQQPPNSFSQ QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ 100
    HRILTAALEF VPAHGWTAEA IAEGAQSLGL SSAAASMFGK DGSELILHFV 150
    TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ FLRDAVETRL RMLIPYIEHW 200
    PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW YTRRAMLAAI 250
    YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG 300
    LMGAAVTLKN LTGLNQRR 318
    Length:318
    Mass (Da):35,509
    Last modified:November 1, 1998 - v1
    Checksum:iF648B4B409E749DA
    GO
    Isoform 2 (identifier: O75208-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         127-135: SLGLSSAAA → VCIGEGGAT
         136-318: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:135
    Mass (Da):14,505
    Checksum:i9C945AE4C90B6CC1
    GO

    Sequence cautioni

    The sequence AAF29004.1 differs from that shown. Reason: Frameshift at positions 26, 133, 138 and 141.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei127 – 1359SLGLSSAAA → VCIGEGGAT in isoform 2. 1 PublicationVSP_017683
    Alternative sequencei136 – 318183Missing in isoform 2. 1 PublicationVSP_017684Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF161444 mRNA. Translation: AAF29004.1. Frameshift.
    AK075438 mRNA. Translation: BAC11621.1.
    AK290627 mRNA. Translation: BAF83316.1.
    AC004382 Genomic DNA. Translation: AAC24313.1.
    CH471092 Genomic DNA. Translation: EAW82928.1.
    BC001478 mRNA. Translation: AAH01478.2.
    BC054340 mRNA. Translation: AAH54340.2.
    BC064946 mRNA. Translation: AAH64946.1.
    AL136884 mRNA. Translation: CAB66818.2.
    CCDSiCCDS32459.1. [O75208-1]
    PIRiT46490.
    RefSeqiNP_064708.1. NM_020312.3. [O75208-1]
    UniGeneiHs.513632.

    Genome annotation databases

    EnsembliENST00000262507; ENSP00000262507; ENSG00000088682. [O75208-1]
    GeneIDi57017.
    KEGGihsa:57017.
    UCSCiuc002elp.2. human. [O75208-2]
    uc002elq.3. human. [O75208-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF161444 mRNA. Translation: AAF29004.1 . Frameshift.
    AK075438 mRNA. Translation: BAC11621.1 .
    AK290627 mRNA. Translation: BAF83316.1 .
    AC004382 Genomic DNA. Translation: AAC24313.1 .
    CH471092 Genomic DNA. Translation: EAW82928.1 .
    BC001478 mRNA. Translation: AAH01478.2 .
    BC054340 mRNA. Translation: AAH54340.2 .
    BC064946 mRNA. Translation: AAH64946.1 .
    AL136884 mRNA. Translation: CAB66818.2 .
    CCDSi CCDS32459.1. [O75208-1 ]
    PIRi T46490.
    RefSeqi NP_064708.1. NM_020312.3. [O75208-1 ]
    UniGenei Hs.513632.

    3D structure databases

    ProteinModelPortali O75208.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121326. 1 interaction.
    IntActi O75208. 2 interactions.
    MINTi MINT-1419260.
    STRINGi 9606.ENSP00000262507.

    PTM databases

    PhosphoSitei O75208.

    Proteomic databases

    MaxQBi O75208.
    PaxDbi O75208.
    PRIDEi O75208.

    Protocols and materials databases

    DNASUi 57017.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262507 ; ENSP00000262507 ; ENSG00000088682 . [O75208-1 ]
    GeneIDi 57017.
    KEGGi hsa:57017.
    UCSCi uc002elp.2. human. [O75208-2 ]
    uc002elq.3. human. [O75208-1 ]

    Organism-specific databases

    CTDi 57017.
    GeneCardsi GC16P057481.
    HGNCi HGNC:25302. COQ9.
    HPAi HPA040918.
    MIMi 612837. gene.
    614654. phenotype.
    neXtProti NX_O75208.
    Orphaneti 319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
    PharmGKBi PA142672085.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5590.
    HOVERGENi HBG079760.
    InParanoidi O75208.
    OMAi EIMENGH.
    OrthoDBi EOG75B85W.
    PhylomeDBi O75208.
    TreeFami TF324653.

    Enzyme and pathway databases

    UniPathwayi UPA00232 .

    Miscellaneous databases

    ChiTaRSi COQ9. human.
    GeneWikii COQ9.
    GenomeRNAii 57017.
    NextBioi 62762.
    PROi O75208.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75208.
    Bgeei O75208.
    CleanExi HS_COQ9.
    Genevestigatori O75208.

    Family and domain databases

    InterProi IPR013718. COQ9.
    IPR012762. Ubiq_biosynth_COQ9.
    [Graphical view ]
    Pfami PF08511. COQ9. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR02396. diverge_rpsU. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    2. "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).
      Tissue: Heart.
    3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    4. 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: Lung, Skin and Uterus.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-318 (ISOFORM 1).
      Tissue: Testis.
    8. "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease."
      Duncan A.J., Bitner-Glindzicz M., Meunier B., Costello H., Hargreaves I.P., Lopez L.C., Hirano M., Quinzii C.M., Sadowski M.I., Hardy J., Singleton A., Clayton P.T., Rahman S.
      Am. J. Hum. Genet. 84:558-566(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN COQ10D5.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCOQ9_HUMAN
    AccessioniPrimary (citable) accession number: O75208
    Secondary accession number(s): A8K3L2
    , Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 106 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 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3