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Q9H0W5

- CCDC8_HUMAN

UniProt

Q9H0W5 - CCDC8_HUMAN

Protein

Coiled-coil domain-containing protein 8

Gene

CCDC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695).2 Publications

    GO - Biological processi

    1. microtubule cytoskeleton organization Source: UniProtKB
    2. negative regulation of phosphatase activity Source: UniProtKB
    3. regulation of mitosis Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 8
    Gene namesi
    Name:CCDC8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:25367. CCDC8.

    Subcellular locationi

    Cytoplasm 1 Publication. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication

    GO - Cellular componenti

    1. 3M complex Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. plasma membrane Source: LIFEdb

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    3M syndrome 3 (3M3) [MIM:614205]: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Dwarfism

    Organism-specific databases

    MIMi614205. phenotype.
    Orphaneti2616. 3M syndrome.
    PharmGKBiPA134931534.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 538538Coiled-coil domain-containing protein 8PRO_0000089401Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei142 – 1421Phosphoserine1 Publication
    Modified residuei146 – 1461Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9H0W5.
    PaxDbiQ9H0W5.
    PRIDEiQ9H0W5.

    PTM databases

    PhosphoSiteiQ9H0W5.

    Expressioni

    Tissue specificityi

    Widely expressed with low levels in spleen, skeletal muscle, small intestine, kidney and liver.1 Publication

    Gene expression databases

    BgeeiQ9H0W5.
    CleanExiHS_CCDC8.
    GenevestigatoriQ9H0W5.

    Organism-specific databases

    HPAiHPA041993.

    Interactioni

    Subunit structurei

    Component of the 3M complex, composed of core components CUL7, CCDC8 and OBSL1. Interacts with OBSL1.2 Publications

    Protein-protein interaction databases

    BioGridi123838. 10 interactions.
    DIPiDIP-60183N.
    IntActiQ9H0W5. 4 interactions.
    MINTiMINT-4724658.
    STRINGi9606.ENSP00000303158.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4LG6X-ray1.80B494-510[»]
    ProteinModelPortaliQ9H0W5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili349 – 36618Sequence AnalysisAdd
    BLAST
    Coiled coili514 – 53522Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi275 – 2784Poly-Arg

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG69684.
    HOGENOMiHOG000111446.
    HOVERGENiHBG050825.
    InParanoidiQ9H0W5.
    KOiK17561.
    OMAiEAADNQR.
    OrthoDBiEOG708VZW.
    PhylomeDBiQ9H0W5.
    TreeFamiTF335054.

    Family and domain databases

    InterProiIPR026526. Coiled-coil_p8.
    IPR026523. PNMA.
    [Graphical view]
    PANTHERiPTHR23095. PTHR23095. 1 hit.
    PTHR23095:SF2. PTHR23095:SF2. 1 hit.
    PfamiPF14893. PNMA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H0W5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR    50
    TLEDVARIME KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS 100
    NASDSEFSDF ETSRDKSRQG PRRGKKVRKM PVSYLGSKFL GSDLESEDDE 150
    ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF EDNLGPQLSK ADRWREYVSQ 200
    VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP EGTSPGDRLG 250
    NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA 300
    DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE 350
    EGAEAADNQR EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG 400
    SEVTDNQREE AVHDQRERAP AVQGADNQRA QARAGQRAEA AHNQRAGAPG 450
    IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF QTPGRFSWFC KRRRAFWHTP 500
    RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL 538
    Length:538
    Mass (Da):59,374
    Last modified:October 17, 2006 - v2
    Checksum:iEB33975190CD9E81
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti515 – 5151A → V in CAB66544. (PubMed:11230166)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti296 – 2961G → R.
    Corresponds to variant rs11880658 [ dbSNP | Ensembl ].
    VAR_061587
    Natural varianti383 – 3831H → Y.
    Corresponds to variant rs34186470 [ dbSNP | Ensembl ].
    VAR_061588
    Natural varianti507 – 5071K → N.
    Corresponds to variant rs2279517 [ dbSNP | Ensembl ].
    VAR_020272

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136609 mRNA. Translation: CAB66544.1.
    BC025243 mRNA. Translation: AAH25243.1.
    CCDSiCCDS12685.1.
    RefSeqiNP_114429.2. NM_032040.4.
    UniGeneiHs.744359.
    Hs.97876.

    Genome annotation databases

    EnsembliENST00000307522; ENSP00000303158; ENSG00000169515.
    GeneIDi83987.
    KEGGihsa:83987.
    UCSCiuc002pep.3. human.

    Polymorphism databases

    DMDMi116241287.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136609 mRNA. Translation: CAB66544.1 .
    BC025243 mRNA. Translation: AAH25243.1 .
    CCDSi CCDS12685.1.
    RefSeqi NP_114429.2. NM_032040.4.
    UniGenei Hs.744359.
    Hs.97876.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4LG6 X-ray 1.80 B 494-510 [» ]
    ProteinModelPortali Q9H0W5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123838. 10 interactions.
    DIPi DIP-60183N.
    IntActi Q9H0W5. 4 interactions.
    MINTi MINT-4724658.
    STRINGi 9606.ENSP00000303158.

    PTM databases

    PhosphoSitei Q9H0W5.

    Polymorphism databases

    DMDMi 116241287.

    Proteomic databases

    MaxQBi Q9H0W5.
    PaxDbi Q9H0W5.
    PRIDEi Q9H0W5.

    Protocols and materials databases

    DNASUi 83987.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307522 ; ENSP00000303158 ; ENSG00000169515 .
    GeneIDi 83987.
    KEGGi hsa:83987.
    UCSCi uc002pep.3. human.

    Organism-specific databases

    CTDi 83987.
    GeneCardsi GC19M046914.
    GeneReviewsi CCDC8.
    HGNCi HGNC:25367. CCDC8.
    HPAi HPA041993.
    MIMi 614145. gene.
    614205. phenotype.
    neXtProti NX_Q9H0W5.
    Orphaneti 2616. 3M syndrome.
    PharmGKBi PA134931534.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG69684.
    HOGENOMi HOG000111446.
    HOVERGENi HBG050825.
    InParanoidi Q9H0W5.
    KOi K17561.
    OMAi EAADNQR.
    OrthoDBi EOG708VZW.
    PhylomeDBi Q9H0W5.
    TreeFami TF335054.

    Miscellaneous databases

    GeneWikii CCDC8.
    GenomeRNAii 83987.
    NextBioi 73122.
    PROi Q9H0W5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H0W5.
    CleanExi HS_CCDC8.
    Genevestigatori Q9H0W5.

    Family and domain databases

    InterProi IPR026526. Coiled-coil_p8.
    IPR026523. PNMA.
    [Graphical view ]
    PANTHERi PTHR23095. PTHR23095. 1 hit.
    PTHR23095:SF2. PTHR23095:SF2. 1 hit.
    Pfami PF14893. PNMA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. "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: Uterus.
    3. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    4. "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth."
      Hanson D., Murray P.G., O'Sullivan J., Urquhart J., Daly S., Bhaskar S.S., Biesecker L.G., Skae M., Smith C., Cole T., Kirk J., Chandler K., Kingston H., Donnai D., Clayton P.E., Black G.C.
      Am. J. Hum. Genet. 89:148-153(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH OBSL1, TISSUE SPECIFICITY, INVOLVEMENT IN 3M3.
    5. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-142 AND SER-146, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: INVOLVEMENT IN 3M3.
    7. Cited for: FUNCTION, IDENTIFICATION IN THE 3M COMPLEX, SUBCELLULAR LOCATION.
    8. "CUL9 mediates the functions of the 3M complex and ubiquitylates survivin to maintain genome integrity."
      Li Z., Pei X.H., Yan J., Yan F., Cappell K.M., Whitehurst A.W., Xiong Y.
      Mol. Cell 54:0-0(2014) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.

    Entry informationi

    Entry nameiCCDC8_HUMAN
    AccessioniPrimary (citable) accession number: Q9H0W5
    Secondary accession number(s): Q8TB26
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 97 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3