Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q96M83

- CCDC7_HUMAN

UniProt

Q96M83 - CCDC7_HUMAN

Protein

Coiled-coil domain-containing protein 7

Gene

CCDC7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 2 (07 Jun 2004)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    May play a role in tumorigenesis.By similarity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 7
    Alternative name(s):
    Protein BIOT2
    Gene namesi
    Name:CCDC7
    Synonyms:BIOT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:26533. CCDC7.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134879457.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 486486Coiled-coil domain-containing protein 7PRO_0000089399Add
    BLAST

    Proteomic databases

    PaxDbiQ96M83.
    PRIDEiQ96M83.

    PTM databases

    PhosphoSiteiQ96M83.

    Expressioni

    Tissue specificityi

    Expressed in epithelium of normal cervix and cervical cancer. Overexpressed in early and interim cervical cancer.1 Publication

    Gene expression databases

    BgeeiQ96M83.
    CleanExiHS_CCDC7.
    GenevestigatoriQ96M83.

    Interactioni

    Protein-protein interaction databases

    BioGridi128674. 3 interactions.
    IntActiQ96M83. 3 interactions.
    MINTiMINT-1438908.
    STRINGi9606.ENSP00000277657.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96M83.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili137 – 15721Sequence AnalysisAdd
    BLAST
    Coiled coili192 – 21524Sequence AnalysisAdd
    BLAST
    Coiled coili276 – 421146Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG131920.
    HOGENOMiHOG000111445.
    HOVERGENiHBG050824.
    OMAiQANMLER.
    OrthoDBiEOG783MV8.
    PhylomeDBiQ96M83.
    TreeFamiTF337205.

    Family and domain databases

    InterProiIPR029272. CCDC7.
    [Graphical view]
    PfamiPF15368. BioT2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96M83-1) [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

    MKPVKHLLTT SNKSANVPAL TTKKGLHNLP LSPELKEKHN AKLIHDKIEP    50
    MVLRSPPTGE SILRYALPIP SSKTKNLLPE DEMIGKIIKH LKMVVSTLEE 100
    TYGHCDQNGE EPFVKHEHEE LSLSVGDDMN SFLTYCSQFA AQLEEALKEE 150
    QNILESLFKW FQWQVNQMEE ISKDQTLLQA EPPKPDKTVI LNIAEIVRLV 200
    QRFEELKNRL KQRSKSSVKV MLSKTMDKEN RPEAVKSCEA LAQKIEEFLE 250
    AHSTDEFKDV SATEPQTAHS MTNRFNAMLK VFENQANMLE RAVNDQVLLD 300
    AEYKQMQCDF QLLSEEKLVL ENELQKLKDK EKTKPTNNRT KKAVKTVKKK 350
    DKGKSEDSEK KMSPEKEFKI KEDLDQVQKV ARLEIENKVL QEQLKQALQE 400
    AEKAKHQLNY FLNQEKLLKS EGKTETTMQV GNSQTKVKGE DSKNIPLEKE 450
    TRKSLVSDSG GQRTSDKIQE YPQITAQSGR LIEKRC 486
    Length:486
    Mass (Da):55,780
    Last modified:June 7, 2004 - v2
    Checksum:iA1BD75D04CCF56EE
    GO
    Isoform 2 (identifier: Q96M83-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         267-267: T → L
         268-486: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:267
    Mass (Da):30,493
    Checksum:i5980867D49E63675
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481K → Q.
    Corresponds to variant rs56391924 [ dbSNP | Ensembl ].
    VAR_061586
    Natural varianti449 – 4491K → T.
    Corresponds to variant rs12268559 [ dbSNP | Ensembl ].
    VAR_050766

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei267 – 2671T → L in isoform 2. 1 PublicationVSP_010525
    Alternative sequencei268 – 486219Missing in isoform 2. 1 PublicationVSP_010526Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057324 mRNA. Translation: BAB71426.1.
    AL391839, AL354750 Genomic DNA. Translation: CAH70456.1.
    AL354750, AL391839 Genomic DNA. Translation: CAI39706.1.
    CH471072 Genomic DNA. Translation: EAW85966.1.
    BC022020 mRNA. Translation: AAH22020.2.
    BC042672 mRNA. Translation: AAH42672.1.
    CCDSiCCDS7173.1. [Q96M83-1]
    RefSeqiNP_001021554.1. NM_001026383.2. [Q96M83-1]
    NP_659460.3. NM_145023.5. [Q96M83-1]
    XP_005252652.1. XM_005252595.1. [Q96M83-1]
    UniGeneiHs.585464.

    Genome annotation databases

    EnsembliENST00000277657; ENSP00000277657; ENSG00000216937. [Q96M83-1]
    ENST00000362006; ENSP00000355078; ENSG00000216937. [Q96M83-1]
    ENST00000476558; ENSP00000436435; ENSG00000216937. [Q96M83-2]
    GeneIDi79741.
    KEGGihsa:79741.
    UCSCiuc001iwj.3. human. [Q96M83-1]

    Polymorphism databases

    DMDMi48428133.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK057324 mRNA. Translation: BAB71426.1 .
    AL391839 , AL354750 Genomic DNA. Translation: CAH70456.1 .
    AL354750 , AL391839 Genomic DNA. Translation: CAI39706.1 .
    CH471072 Genomic DNA. Translation: EAW85966.1 .
    BC022020 mRNA. Translation: AAH22020.2 .
    BC042672 mRNA. Translation: AAH42672.1 .
    CCDSi CCDS7173.1. [Q96M83-1 ]
    RefSeqi NP_001021554.1. NM_001026383.2. [Q96M83-1 ]
    NP_659460.3. NM_145023.5. [Q96M83-1 ]
    XP_005252652.1. XM_005252595.1. [Q96M83-1 ]
    UniGenei Hs.585464.

    3D structure databases

    ProteinModelPortali Q96M83.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128674. 3 interactions.
    IntActi Q96M83. 3 interactions.
    MINTi MINT-1438908.
    STRINGi 9606.ENSP00000277657.

    PTM databases

    PhosphoSitei Q96M83.

    Polymorphism databases

    DMDMi 48428133.

    Proteomic databases

    PaxDbi Q96M83.
    PRIDEi Q96M83.

    Protocols and materials databases

    DNASUi 221016.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000277657 ; ENSP00000277657 ; ENSG00000216937 . [Q96M83-1 ]
    ENST00000362006 ; ENSP00000355078 ; ENSG00000216937 . [Q96M83-1 ]
    ENST00000476558 ; ENSP00000436435 ; ENSG00000216937 . [Q96M83-2 ]
    GeneIDi 79741.
    KEGGi hsa:79741.
    UCSCi uc001iwj.3. human. [Q96M83-1 ]

    Organism-specific databases

    CTDi 79741.
    GeneCardsi GC10P032776.
    HGNCi HGNC:26533. CCDC7.
    neXtProti NX_Q96M83.
    PharmGKBi PA134879457.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG131920.
    HOGENOMi HOG000111445.
    HOVERGENi HBG050824.
    OMAi QANMLER.
    OrthoDBi EOG783MV8.
    PhylomeDBi Q96M83.
    TreeFami TF337205.

    Miscellaneous databases

    NextBioi 91145.
    PROi Q96M83.

    Gene expression databases

    Bgeei Q96M83.
    CleanExi HS_CCDC7.
    Genevestigatori Q96M83.

    Family and domain databases

    InterProi IPR029272. CCDC7.
    [Graphical view ]
    Pfami PF15368. BioT2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 2).
      Tissue: Testis.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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 and Testis.
    5. "Overexpression of the hBiot2 gene is associated with development of human cervical cancer."
      Shen Y.M., He X., Deng H.X., Xie Y.P., Wang C.T., Wei Y.Q., Zhao X.
      Oncol. Rep. 25:75-80(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiCCDC7_HUMAN
    AccessioniPrimary (citable) accession number: Q96M83
    Secondary accession number(s): Q5VW55, Q8IVQ0, Q8NEQ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: June 7, 2004
    Last modified: October 1, 2014
    This is version 86 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: 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

    External Data

    Dasty 3