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Q8TBZ0

- CC110_HUMAN

UniProt

Q8TBZ0 - CC110_HUMAN

Protein

Coiled-coil domain-containing protein 110

Gene

CCDC110

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 110
    Alternative name(s):
    Cancer/testis antigen 52
    Short name:
    CT52
    Cancer/testis antigen KM-HN-1
    Gene namesi
    Name:CCDC110
    Synonyms:KMHN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:28504. CCDC110.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162381283.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 833833Coiled-coil domain-containing protein 110PRO_0000249076Add
    BLAST

    Proteomic databases

    PaxDbiQ8TBZ0.
    PRIDEiQ8TBZ0.

    PTM databases

    PhosphoSiteiQ8TBZ0.

    Expressioni

    Tissue specificityi

    Expressed specifically in testis. Also expressed in tumors of different origins.1 Publication

    Gene expression databases

    ArrayExpressiQ8TBZ0.
    BgeeiQ8TBZ0.
    CleanExiHS_CCDC110.
    GenevestigatoriQ8TBZ0.

    Organism-specific databases

    HPAiHPA038475.

    Interactioni

    Protein-protein interaction databases

    BioGridi129157. 2 interactions.
    IntActiQ8TBZ0. 1 interaction.
    STRINGi9606.ENSP00000306776.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TBZ0.
    SMRiQ8TBZ0. Positions 749-784.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili431 – 778348Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG128630.
    HOGENOMiHOG000057285.
    HOVERGENiHBG081026.
    InParanoidiQ8TBZ0.
    OrthoDBiEOG71K62D.
    PhylomeDBiQ8TBZ0.
    TreeFamiTF335739.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TBZ0-1) [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

    MSPEKQHREE DEVDSVLLSA SKILNSSEGV KESGCSDTEY GCIAESENQI    50
    QPQSALKVLQ QQLESFQALR MQTLQNVSMV QSEISEILNK SIIEVENPQF 100
    SSEKNLVFGT RIEKDLPTEN QEENLSMEKS HHFEDSKTLH SVEEKLSGDS 150
    VNSLPQSVNV PSQIHSEDTL TLRTSTDNLS SNIIIHPSEN SDILKNYNNF 200
    YRFLPTAPPN VMSQADTVIL DKSKITVPFL KHGFCENLDD ICHSIKQMKE 250
    ELQKSHDGEV ALTNELQTLQ TDPDVHRNGK YDMSPIHQDK MNFIKEENLD 300
    GNLNEDIKSK RISELEALVK KLLPFRETVS KFHVHFCRKC KKLSKSEMHR 350
    GKKNEKNNKE IPITGKNITD LKFHSRVPRY TLSFLDQTKH EMKDKERQPF 400
    LVKQGSIISE NEKTSKVNSV TEQCVAKIQY LQNYLKESVQ IQKKVMELES 450
    ENLNLKSKMK PLIFTTQSLI QKVETYEKQL KNLVEEKSTI QSKLSKTEEY 500
    SKECLKEFKK IISKYNVLQG QNKTLEEKNI QLSLEKQQMM EALDQLKSKE 550
    HKTQSDMAIV NNENNRMSIE MEAMKTNILL IQDEKEMLEK KTHQLLKEKS 600
    SLGNELKESQ LEIIQLKEKE RLAKTEQETL LQIIETVKDE KLNLETTLQE 650
    STAARQIMER EIENIQTYQS TAEENFLQEI KNAKSEASIY KNSLSEIGKE 700
    CEMLSKMVME TKTDNQILKE ELKKHSQENI KFENSISRLT EDKILLENYV 750
    RSIENERDTL EFEMRHLQRE YLSLSDKICN QHNDPSKTTY ISRREKFHFD 800
    NYTHEDTSSP QSRPLASDLK GYFKVKDRTL KHH 833
    Length:833
    Mass (Da):96,726
    Last modified:June 1, 2002 - v1
    Checksum:iAE76D1328CBED1BA
    GO
    Isoform 2 (identifier: Q8TBZ0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         80-116: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:796
    Mass (Da):92,509
    Checksum:i7B491F6E23D0DC27
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091P → Q.
    Corresponds to variant rs7699687 [ dbSNP | Ensembl ].
    VAR_050729
    Natural varianti299 – 2991L → M.
    Corresponds to variant rs7698680 [ dbSNP | Ensembl ].
    VAR_050730
    Natural varianti382 – 3821L → M.
    Corresponds to variant rs9999097 [ dbSNP | Ensembl ].
    VAR_050731
    Natural varianti409 – 4091S → F.
    Corresponds to variant rs11132306 [ dbSNP | Ensembl ].
    VAR_050732
    Natural varianti500 – 5001Y → D.
    Corresponds to variant rs59319722 [ dbSNP | Ensembl ].
    VAR_061577
    Natural varianti614 – 6141I → M.
    Corresponds to variant rs35596415 [ dbSNP | Ensembl ].
    VAR_050733
    Natural varianti669 – 6691Q → R.
    Corresponds to variant rs6827370 [ dbSNP | Ensembl ].
    VAR_050734
    Natural varianti817 – 8171S → L.
    Corresponds to variant rs9683564 [ dbSNP | Ensembl ].
    VAR_050735
    Natural varianti819 – 8191L → M.
    Corresponds to variant rs34800518 [ dbSNP | Ensembl ].
    VAR_050736

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei80 – 11637Missing in isoform 2. 1 PublicationVSP_020365Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB080722 mRNA. Translation: BAC81776.1.
    BC028419 mRNA. Translation: AAH28419.1.
    BC038515 mRNA. Translation: AAH38515.1.
    AK097605 mRNA. Translation: BAC05116.1.
    CCDSiCCDS3843.1. [Q8TBZ0-1]
    CCDS47170.1. [Q8TBZ0-2]
    RefSeqiNP_001138883.1. NM_001145411.1. [Q8TBZ0-2]
    NP_689988.1. NM_152775.3. [Q8TBZ0-1]
    UniGeneiHs.41101.

    Genome annotation databases

    EnsembliENST00000307588; ENSP00000306776; ENSG00000168491. [Q8TBZ0-1]
    ENST00000393540; ENSP00000377172; ENSG00000168491. [Q8TBZ0-2]
    GeneIDi256309.
    KEGGihsa:256309.
    UCSCiuc003ixu.4. human. [Q8TBZ0-1]
    uc003ixv.4. human. [Q8TBZ0-2]

    Polymorphism databases

    DMDMi74730531.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB080722 mRNA. Translation: BAC81776.1 .
    BC028419 mRNA. Translation: AAH28419.1 .
    BC038515 mRNA. Translation: AAH38515.1 .
    AK097605 mRNA. Translation: BAC05116.1 .
    CCDSi CCDS3843.1. [Q8TBZ0-1 ]
    CCDS47170.1. [Q8TBZ0-2 ]
    RefSeqi NP_001138883.1. NM_001145411.1. [Q8TBZ0-2 ]
    NP_689988.1. NM_152775.3. [Q8TBZ0-1 ]
    UniGenei Hs.41101.

    3D structure databases

    ProteinModelPortali Q8TBZ0.
    SMRi Q8TBZ0. Positions 749-784.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129157. 2 interactions.
    IntActi Q8TBZ0. 1 interaction.
    STRINGi 9606.ENSP00000306776.

    PTM databases

    PhosphoSitei Q8TBZ0.

    Polymorphism databases

    DMDMi 74730531.

    Proteomic databases

    PaxDbi Q8TBZ0.
    PRIDEi Q8TBZ0.

    Protocols and materials databases

    DNASUi 256309.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307588 ; ENSP00000306776 ; ENSG00000168491 . [Q8TBZ0-1 ]
    ENST00000393540 ; ENSP00000377172 ; ENSG00000168491 . [Q8TBZ0-2 ]
    GeneIDi 256309.
    KEGGi hsa:256309.
    UCSCi uc003ixu.4. human. [Q8TBZ0-1 ]
    uc003ixv.4. human. [Q8TBZ0-2 ]

    Organism-specific databases

    CTDi 256309.
    GeneCardsi GC04M186366.
    HGNCi HGNC:28504. CCDC110.
    HPAi HPA038475.
    MIMi 609488. gene.
    neXtProti NX_Q8TBZ0.
    PharmGKBi PA162381283.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG128630.
    HOGENOMi HOG000057285.
    HOVERGENi HBG081026.
    InParanoidi Q8TBZ0.
    OrthoDBi EOG71K62D.
    PhylomeDBi Q8TBZ0.
    TreeFami TF335739.

    Miscellaneous databases

    GenomeRNAii 256309.
    NextBioi 92775.
    PROi Q8TBZ0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TBZ0.
    Bgeei Q8TBZ0.
    CleanExi HS_CCDC110.
    Genevestigatori Q8TBZ0.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel human cancer/testis antigen, KM-HN-1, recognized by cellular and humoral immune responses."
      Monji M., Nakatsura T., Senju S., Yoshitake Y., Sawatsubashi M., Shinohara M., Kageshita T., Ono T., Inokuchi A., Nishimura Y.
      Clin. Cancer Res. 10:6047-6057(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Testis.
    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] (ISOFORMS 1 AND 2).
      Tissue: Testis.
    3. "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] OF 1-596.
      Tissue: Testis.

    Entry informationi

    Entry nameiCC110_HUMAN
    AccessioniPrimary (citable) accession number: Q8TBZ0
    Secondary accession number(s): Q86YI9, Q8N7W0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 84 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 4
      Human chromosome 4: 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

    External Data

    Dasty 3