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Q9Y3A0

- COQ4_HUMAN

UniProt

Q9Y3A0 - COQ4_HUMAN

Protein

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Gene

COQ4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 3 (14 Apr 2009)
      Previous versions | rss
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    Functioni

    Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.1 PublicationUniRule annotation

    Pathwayi

    GO - Biological processi

    1. 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 COQ4 homolog, mitochondrialUniRule annotation
    Alternative name(s):
    Coenzyme Q biosynthesis protein 4 homologUniRule annotation
    Gene namesi
    Name:COQ4UniRule annotation
    ORF Names:CGI-92
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:19693. COQ4.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134957951.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3030MitochondrionUniRule annotationAdd
    BLAST
    Chaini31 – 265235Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialPRO_0000115240Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y3A0.
    PaxDbiQ9Y3A0.
    PRIDEiQ9Y3A0.

    PTM databases

    PhosphoSiteiQ9Y3A0.

    Expressioni

    Tissue specificityi

    Expressed ubiquitously, but at high levels in liver, lung and pancreas.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y3A0.
    BgeeiQ9Y3A0.
    CleanExiHS_COQ4.
    GenevestigatoriQ9Y3A0.

    Organism-specific databases

    HPAiHPA042945.

    Interactioni

    Subunit structurei

    Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.UniRule annotation

    Protein-protein interaction databases

    BioGridi119305. 1 interaction.
    STRINGi9606.ENSP00000300452.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y3A0.
    SMRiQ9Y3A0. Positions 87-256.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the COQ4 family.UniRule annotation

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG5031.
    HOGENOMiHOG000194110.
    HOVERGENiHBG027006.
    InParanoidiQ9Y3A0.
    OMAiYEQRWEQ.
    OrthoDBiEOG7S7SGB.
    PhylomeDBiQ9Y3A0.
    TreeFamiTF314625.

    Family and domain databases

    HAMAPiMF_03111. Coq4.
    InterProiIPR007715. Coq4.
    IPR027540. Coq4_euk.
    [Graphical view]
    PfamiPF05019. Coq4. 1 hit.
    [Graphical view]

    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: Q9Y3A0-1) [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

    MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG    50
    LLAAGSAAMA LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ 100
    ERPRISTSTL DLGKLQSLPE GSLGREYLRF LDVNRVSPDT RAPTRFVDDE 150
    ELAYVIQRYR EVHDMLHTLL GMPTNILGEI VVKWFEAVQT GLPMCILGAF 200
    FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR WEQSLRALRE 250
    ELGITAPPMH VQGLA 265
    Length:265
    Mass (Da):29,657
    Last modified:April 14, 2009 - v3
    Checksum:iBFD161918B2924E2
    GO
    Isoform 2 (identifier: Q9Y3A0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: Missing.

    Show »
    Length:241
    Mass (Da):27,043
    Checksum:i43BFF1418627F86A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti230 – 2301P → H in AAD34087. (PubMed:10810093)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201R → Q.
    Corresponds to variant rs9697215 [ dbSNP | Ensembl ].
    VAR_048829
    Natural varianti50 – 501G → A.4 Publications
    Corresponds to variant rs3003601 [ dbSNP | Ensembl ].
    VAR_054861

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2424Missing in isoform 2. 1 PublicationVSP_036866Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU216419 mRNA. Translation: ABW91141.1.
    EU216420 mRNA. Translation: ABW91142.1.
    EU216421 mRNA. Translation: ABW91143.1.
    EU216422 mRNA. Translation: ABW91144.1.
    EU216423 mRNA. Translation: ABW91145.1.
    AF151850 mRNA. Translation: AAD34087.1.
    AK313650 mRNA. Translation: BAG36405.1.
    AL359091 Genomic DNA. Translation: CAI13487.1.
    CH471090 Genomic DNA. Translation: EAW87776.1.
    BC011895 mRNA. Translation: AAH11895.1.
    CCDSiCCDS6898.1. [Q9Y3A0-1]
    RefSeqiNP_057119.2. NM_016035.3.
    UniGeneiHs.98541.

    Genome annotation databases

    EnsembliENST00000300452; ENSP00000300452; ENSG00000167113. [Q9Y3A0-1]
    GeneIDi51117.
    KEGGihsa:51117.
    UCSCiuc004bur.4. human. [Q9Y3A0-1]

    Polymorphism databases

    DMDMi226694194.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU216419 mRNA. Translation: ABW91141.1 .
    EU216420 mRNA. Translation: ABW91142.1 .
    EU216421 mRNA. Translation: ABW91143.1 .
    EU216422 mRNA. Translation: ABW91144.1 .
    EU216423 mRNA. Translation: ABW91145.1 .
    AF151850 mRNA. Translation: AAD34087.1 .
    AK313650 mRNA. Translation: BAG36405.1 .
    AL359091 Genomic DNA. Translation: CAI13487.1 .
    CH471090 Genomic DNA. Translation: EAW87776.1 .
    BC011895 mRNA. Translation: AAH11895.1 .
    CCDSi CCDS6898.1. [Q9Y3A0-1 ]
    RefSeqi NP_057119.2. NM_016035.3.
    UniGenei Hs.98541.

    3D structure databases

    ProteinModelPortali Q9Y3A0.
    SMRi Q9Y3A0. Positions 87-256.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119305. 1 interaction.
    STRINGi 9606.ENSP00000300452.

    PTM databases

    PhosphoSitei Q9Y3A0.

    Polymorphism databases

    DMDMi 226694194.

    Proteomic databases

    MaxQBi Q9Y3A0.
    PaxDbi Q9Y3A0.
    PRIDEi Q9Y3A0.

    Protocols and materials databases

    DNASUi 51117.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300452 ; ENSP00000300452 ; ENSG00000167113 . [Q9Y3A0-1 ]
    GeneIDi 51117.
    KEGGi hsa:51117.
    UCSCi uc004bur.4. human. [Q9Y3A0-1 ]

    Organism-specific databases

    CTDi 51117.
    GeneCardsi GC09P131084.
    HGNCi HGNC:19693. COQ4.
    HPAi HPA042945.
    MIMi 612898. gene.
    neXtProti NX_Q9Y3A0.
    PharmGKBi PA134957951.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5031.
    HOGENOMi HOG000194110.
    HOVERGENi HBG027006.
    InParanoidi Q9Y3A0.
    OMAi YEQRWEQ.
    OrthoDBi EOG7S7SGB.
    PhylomeDBi Q9Y3A0.
    TreeFami TF314625.

    Enzyme and pathway databases

    UniPathwayi UPA00232 .

    Miscellaneous databases

    GeneWikii COQ4.
    GenomeRNAii 51117.
    NextBioi 53889.
    PROi Q9Y3A0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y3A0.
    Bgeei Q9Y3A0.
    CleanExi HS_COQ4.
    Genevestigatori Q9Y3A0.

    Family and domain databases

    HAMAPi MF_03111. Coq4.
    InterProi IPR007715. Coq4.
    IPR027540. Coq4_euk.
    [Graphical view ]
    Pfami PF05019. Coq4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-50.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 ALA-50.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-50.
    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), VARIANT ALA-50.
      Tissue: Lung.

    Entry informationi

    Entry nameiCOQ4_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y3A0
    Secondary accession number(s): A8WBK8
    , B2R958, Q5T4B8, Q96EW4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: April 14, 2009
    Last modified: October 1, 2014
    This is version 99 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 9
      Human chromosome 9: 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