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Q8IWD4

- CC117_HUMAN

UniProt

Q8IWD4 - CC117_HUMAN

Protein

Coiled-coil domain-containing protein 117

Gene

CCDC117

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 117
    Gene namesi
    Name:CCDC117
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:26599. CCDC117.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145149315.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 279279Coiled-coil domain-containing protein 117PRO_0000254138Add
    BLAST

    Proteomic databases

    MaxQBiQ8IWD4.
    PaxDbiQ8IWD4.
    PRIDEiQ8IWD4.

    PTM databases

    PhosphoSiteiQ8IWD4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8IWD4.
    BgeeiQ8IWD4.
    CleanExiHS_CCDC117.
    GenevestigatoriQ8IWD4.

    Organism-specific databases

    HPAiHPA000826.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HSP90AA1P079005EBI-3387963,EBI-296047
    STIP1P319482EBI-3387963,EBI-1054052

    Protein-protein interaction databases

    BioGridi127277. 3 interactions.
    IntActiQ8IWD4. 7 interactions.
    STRINGi9606.ENSP00000249064.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IWD4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili141 – 16828Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG44516.
    HOGENOMiHOG000012995.
    HOVERGENiHBG081030.
    InParanoidiQ8IWD4.
    OMAiPQCEVAR.
    OrthoDBiEOG7KM5W5.
    PhylomeDBiQ8IWD4.
    TreeFamiTF335674.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IWD4-1) [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

    MAALGRPFSG LPLSGGSDFL QPPQPAFPGR AFPPGADGAE LAPRPGPRAV    50
    PSSPAGSAAR GRVSVHCKKK HKREEEEDDD CPVRKKRITE AELCAGPNDW 100
    ILCAHQDVEG HGVNPSVSGL SIPGILDVIC EEMDQTTGEP QCEVARRKLQ 150
    EIEDRIIDED EEVEADRNVN HLPSLVLSDT MKTGLKREFD EVFTKKMIES 200
    MSRPSMELVL WKPLPELLSD KPKPSSNTKN YTGESQAKHV AAGTAFPQRT 250
    ELFSEPRPTG MSLYNSLETA TSTEEEMEL 279
    Length:279
    Mass (Da):30,541
    Last modified:March 1, 2003 - v1
    Checksum:i97D5FBB76AE5ABFE
    GO
    Isoform 2 (identifier: Q8IWD4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         12-120: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:170
    Mass (Da):19,092
    Checksum:i796444A611D98774
    GO
    Isoform 3 (identifier: Q8IWD4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         63-80: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:261
    Mass (Da):28,348
    Checksum:i3724420956B356F5
    GO
    Isoform 4 (identifier: Q8IWD4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         80-155: DCPVRKKRIT...RRKLQEIEDR → E

    Note: No experimental confirmation available.

    Show »
    Length:204
    Mass (Da):22,288
    Checksum:iF3C86513751C6696
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti102 – 1021L → P in BAC03592. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti147 – 1471R → S.
    Corresponds to variant rs13057011 [ dbSNP | Ensembl ].
    VAR_028823
    Natural varianti272 – 2721S → N.
    Corresponds to variant rs9613680 [ dbSNP | Ensembl ].
    VAR_028824

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei12 – 120109Missing in isoform 2. 1 PublicationVSP_021185Add
    BLAST
    Alternative sequencei63 – 8018Missing in isoform 3. 1 PublicationVSP_054912Add
    BLAST
    Alternative sequencei80 – 15576DCPVR…EIEDR → E in isoform 4. 1 PublicationVSP_054913Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR456461 mRNA. Translation: CAG30347.1.
    AK091133 mRNA. Translation: BAC03592.1.
    AK289516 mRNA. Translation: BAF82205.1.
    AK295140 mRNA. Translation: BAH11987.1.
    AK302925 mRNA. Translation: BAH13846.1.
    Z93930, AL023494 Genomic DNA. Translation: CAI17952.1.
    AL023494, Z93930 Genomic DNA. Translation: CAI20338.1.
    CH471095 Genomic DNA. Translation: EAW59761.1.
    BC040488 mRNA. Translation: AAH40488.1.
    BC053874 mRNA. Translation: AAH53874.1.
    BC065549 mRNA. Translation: AAH65549.1.
    CCDSiCCDS13846.1. [Q8IWD4-1]
    CCDS63435.1. [Q8IWD4-4]
    CCDS63436.1. [Q8IWD4-3]
    RefSeqiNP_001271192.1. NM_001284263.1. [Q8IWD4-3]
    NP_001271193.1. NM_001284264.1. [Q8IWD4-4]
    NP_001271194.1. NM_001284265.1.
    NP_775781.1. NM_173510.3. [Q8IWD4-1]
    UniGeneiHs.406460.

    Genome annotation databases

    EnsembliENST00000249064; ENSP00000249064; ENSG00000159873. [Q8IWD4-1]
    ENST00000421503; ENSP00000387827; ENSG00000159873. [Q8IWD4-4]
    ENST00000448492; ENSP00000389478; ENSG00000159873. [Q8IWD4-3]
    GeneIDi150275.
    KEGGihsa:150275.
    UCSCiuc003aeb.3. human. [Q8IWD4-1]

    Polymorphism databases

    DMDMi74759628.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR456461 mRNA. Translation: CAG30347.1 .
    AK091133 mRNA. Translation: BAC03592.1 .
    AK289516 mRNA. Translation: BAF82205.1 .
    AK295140 mRNA. Translation: BAH11987.1 .
    AK302925 mRNA. Translation: BAH13846.1 .
    Z93930 , AL023494 Genomic DNA. Translation: CAI17952.1 .
    AL023494 , Z93930 Genomic DNA. Translation: CAI20338.1 .
    CH471095 Genomic DNA. Translation: EAW59761.1 .
    BC040488 mRNA. Translation: AAH40488.1 .
    BC053874 mRNA. Translation: AAH53874.1 .
    BC065549 mRNA. Translation: AAH65549.1 .
    CCDSi CCDS13846.1. [Q8IWD4-1 ]
    CCDS63435.1. [Q8IWD4-4 ]
    CCDS63436.1. [Q8IWD4-3 ]
    RefSeqi NP_001271192.1. NM_001284263.1. [Q8IWD4-3 ]
    NP_001271193.1. NM_001284264.1. [Q8IWD4-4 ]
    NP_001271194.1. NM_001284265.1.
    NP_775781.1. NM_173510.3. [Q8IWD4-1 ]
    UniGenei Hs.406460.

    3D structure databases

    ProteinModelPortali Q8IWD4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127277. 3 interactions.
    IntActi Q8IWD4. 7 interactions.
    STRINGi 9606.ENSP00000249064.

    PTM databases

    PhosphoSitei Q8IWD4.

    Polymorphism databases

    DMDMi 74759628.

    Proteomic databases

    MaxQBi Q8IWD4.
    PaxDbi Q8IWD4.
    PRIDEi Q8IWD4.

    Protocols and materials databases

    DNASUi 150275.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249064 ; ENSP00000249064 ; ENSG00000159873 . [Q8IWD4-1 ]
    ENST00000421503 ; ENSP00000387827 ; ENSG00000159873 . [Q8IWD4-4 ]
    ENST00000448492 ; ENSP00000389478 ; ENSG00000159873 . [Q8IWD4-3 ]
    GeneIDi 150275.
    KEGGi hsa:150275.
    UCSCi uc003aeb.3. human. [Q8IWD4-1 ]

    Organism-specific databases

    CTDi 150275.
    GeneCardsi GC22P029168.
    HGNCi HGNC:26599. CCDC117.
    HPAi HPA000826.
    neXtProti NX_Q8IWD4.
    PharmGKBi PA145149315.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44516.
    HOGENOMi HOG000012995.
    HOVERGENi HBG081030.
    InParanoidi Q8IWD4.
    OMAi PQCEVAR.
    OrthoDBi EOG7KM5W5.
    PhylomeDBi Q8IWD4.
    TreeFami TF335674.

    Miscellaneous databases

    ChiTaRSi CCDC117. human.
    GenomeRNAii 150275.
    NextBioi 35479081.
    PROi Q8IWD4.

    Gene expression databases

    ArrayExpressi Q8IWD4.
    Bgeei Q8IWD4.
    CleanExi HS_CCDC117.
    Genevestigatori Q8IWD4.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    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] (ISOFORMS 1; 3 AND 4).
      Tissue: Brain, Cerebellum, Testis and Tongue.
    3. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Testis, Testis carcinoma and Uterine leiomyoma.

    Entry informationi

    Entry nameiCC117_HUMAN
    AccessioniPrimary (citable) accession number: Q8IWD4
    Secondary accession number(s): A8K0F1
    , B7Z2V1, B7Z860, Q6ICA7, Q8N278
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 93 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 22
      Human chromosome 22: 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