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Q9Y3M2

- CBY1_HUMAN

UniProt

Q9Y3M2 - CBY1_HUMAN

Protein

Protein chibby homolog 1

Gene

CBY1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Inhibits the Wnt/Wingless pathway by binding to beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation.2 Publications

    GO - Molecular functioni

    1. beta-catenin binding Source: UniProtKB
    2. identical protein binding Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. cardiac muscle cell differentiation Source: UniProtKB
    2. cilium assembly Source: Ensembl
    3. fat cell differentiation Source: UniProtKB
    4. negative regulation of canonical Wnt signaling pathway Source: Ensembl
    5. negative regulation of transcription, DNA-templated Source: UniProtKB
    6. negative regulation of Wnt signaling pathway Source: UniProtKB
    7. protein localization Source: UniProtKB

    Keywords - Biological processi

    Differentiation

    Enzyme and pathway databases

    ReactomeiREACT_200731. deactivation of the beta-catenin transactivating complex.
    SignaLinkiQ9Y3M2.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein chibby homolog 1
    Alternative name(s):
    ARPP-binding protein
    Cytosolic leucine-rich protein
    PIGEA-14
    PKD2 interactor, Golgi and endoplasmic reticulum-associated 1
    Gene namesi
    Name:CBY1
    Synonyms:ARB1, C22orf2, CBY, PGEA1
    ORF Names:HRIHFB2025
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:1307. CBY1.

    Subcellular locationi

    Nucleus speckle. Golgi apparatustrans-Golgi network
    Note: Nuclear, in a punctate manner. Also found in the trans-Golgi.

    GO - Cellular componenti

    1. nuclear speck Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB
    3. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25886.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 126126Protein chibby homolog 1PRO_0000058354Add
    BLAST

    Proteomic databases

    PaxDbiQ9Y3M2.
    PRIDEiQ9Y3M2.

    PTM databases

    PhosphoSiteiQ9Y3M2.

    Expressioni

    Tissue specificityi

    Widely expressed. Expressed at higher levels in heart, skeletal muscle, kidney and placenta. Also found in brain, lung, liver and testis. Significantly down-regulated in thyroid and metastatic uterine tumors.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y3M2.
    BgeeiQ9Y3M2.
    CleanExiHS_CBY1.
    GenevestigatoriQ9Y3M2.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of beta-catenin.2 Publications

    Protein-protein interaction databases

    BioGridi117311. 6 interactions.
    DIPiDIP-29651N.
    IntActiQ9Y3M2. 7 interactions.
    MINTiMINT-2871551.
    STRINGi9606.ENSP00000216029.

    Structurei

    3D structure databases

    DisProtiDP00709.
    ProteinModelPortaliQ9Y3M2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni60 – 11253Minimal region for the interaction with PKD2Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili67 – 12559Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the chibby family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG39404.
    HOGENOMiHOG000006694.
    HOVERGENiHBG050816.
    InParanoidiQ9Y3M2.
    OMAiLEYGTPT.
    PhylomeDBiQ9Y3M2.
    TreeFamiTF324419.

    Family and domain databases

    InterProiIPR028118. Chibby_fam.
    [Graphical view]
    PfamiPF14645. Chibby. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y3M2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPFFGNTFSP KKTPPRKSAS LSNLHSLDRS TREVELGLEY GSPTMNLAGQ    50
    SLKFENGQWI AETGVSGGVD RREVQRLRRR NQQLEEENNL LRLKVDILLD 100
    MLSESTAESH LMEKELDELR ISRKRK 126
    Length:126
    Mass (Da):14,470
    Last modified:November 1, 1999 - v1
    Checksum:i0D243AD2CC436E55
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti73 – 731E → K in AAL56062. 1 PublicationCurated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF331041 mRNA. Translation: AAL56062.1.
    AB111855 mRNA. Translation: BAC78839.1.
    AL136686 mRNA. Translation: CAB66621.1.
    AL050345 mRNA. Translation: CAB43547.1.
    CR456410 mRNA. Translation: CAG30296.1.
    AK311928 mRNA. Translation: BAG34869.1.
    AL021707 Genomic DNA. Translation: CAB63442.1.
    CH471095 Genomic DNA. Translation: EAW60254.1.
    BC016139 mRNA. Translation: AAH16139.1.
    AB015347 mRNA. Translation: BAA88119.1.
    BK005534 Genomic DNA. Translation: DAA05582.1.
    CCDSiCCDS13974.1.
    RefSeqiNP_001002880.2. NM_001002880.1.
    NP_056188.1. NM_015373.3.
    UniGeneiHs.334911.
    Hs.744261.

    Genome annotation databases

    EnsembliENST00000216029; ENSP00000216029; ENSG00000100211.
    ENST00000396811; ENSP00000380026; ENSG00000100211.
    GeneIDi25776.
    KEGGihsa:25776.
    UCSCiuc003awb.4. human.

    Polymorphism databases

    DMDMi20454882.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF331041 mRNA. Translation: AAL56062.1 .
    AB111855 mRNA. Translation: BAC78839.1 .
    AL136686 mRNA. Translation: CAB66621.1 .
    AL050345 mRNA. Translation: CAB43547.1 .
    CR456410 mRNA. Translation: CAG30296.1 .
    AK311928 mRNA. Translation: BAG34869.1 .
    AL021707 Genomic DNA. Translation: CAB63442.1 .
    CH471095 Genomic DNA. Translation: EAW60254.1 .
    BC016139 mRNA. Translation: AAH16139.1 .
    AB015347 mRNA. Translation: BAA88119.1 .
    BK005534 Genomic DNA. Translation: DAA05582.1 .
    CCDSi CCDS13974.1.
    RefSeqi NP_001002880.2. NM_001002880.1.
    NP_056188.1. NM_015373.3.
    UniGenei Hs.334911.
    Hs.744261.

    3D structure databases

    DisProti DP00709.
    ProteinModelPortali Q9Y3M2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117311. 6 interactions.
    DIPi DIP-29651N.
    IntActi Q9Y3M2. 7 interactions.
    MINTi MINT-2871551.
    STRINGi 9606.ENSP00000216029.

    PTM databases

    PhosphoSitei Q9Y3M2.

    Polymorphism databases

    DMDMi 20454882.

    Proteomic databases

    PaxDbi Q9Y3M2.
    PRIDEi Q9Y3M2.

    Protocols and materials databases

    DNASUi 25776.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216029 ; ENSP00000216029 ; ENSG00000100211 .
    ENST00000396811 ; ENSP00000380026 ; ENSG00000100211 .
    GeneIDi 25776.
    KEGGi hsa:25776.
    UCSCi uc003awb.4. human.

    Organism-specific databases

    CTDi 25776.
    GeneCardsi GC22P039052.
    HGNCi HGNC:1307. CBY1.
    MIMi 607757. gene.
    neXtProti NX_Q9Y3M2.
    PharmGKBi PA25886.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39404.
    HOGENOMi HOG000006694.
    HOVERGENi HBG050816.
    InParanoidi Q9Y3M2.
    OMAi LEYGTPT.
    PhylomeDBi Q9Y3M2.
    TreeFami TF324419.

    Enzyme and pathway databases

    Reactomei REACT_200731. deactivation of the beta-catenin transactivating complex.
    SignaLinki Q9Y3M2.

    Miscellaneous databases

    GeneWikii CBY1.
    GenomeRNAii 25776.
    NextBioi 46914.
    PROi Q9Y3M2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y3M2.
    Bgeei Q9Y3M2.
    CleanExi HS_CBY1.
    Genevestigatori Q9Y3M2.

    Family and domain databases

    InterProi IPR028118. Chibby_fam.
    [Graphical view ]
    Pfami PF14645. Chibby. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel cytosolic leucine-rich protein."
      Huang C.-H.
      Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Human ARPP-binding protein, arb1."
      Moriyama M., Nakada C., Tsukamoto Y., Baba T., Kondo G., Ishiguro N., Horiuchi M., Sekine C., Maeda A.
      Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Heart.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    4. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
      Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
      Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "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].
      Tissue: Brain.
    7. "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].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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: Skin.
    10. "HRI NTT human fetal brain cDNA project."
      Ueki N.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-126.
      Tissue: Fetal brain.
    11. "Chibby, a nuclear beta-catenin-associated antagonist of the Wnt/Wingless pathway."
      Takemaru K., Yamaguchi S., Lee Y.S., Zhang Y., Carthew R.W., Moon R.T.
      Nature 422:905-909(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH BETA-CATENIN.
    12. "PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2."
      Hidaka S., Koenecke V., Osten L., Witzgall R.
      J. Biol. Chem. 279:35009-35016(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PKD2 AND GM130.
    13. "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].

    Entry informationi

    Entry nameiCBY1_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y3M2
    Secondary accession number(s): B2R4S2, Q66GT6, Q9UIK9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 126 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

    Miscellaneous

    'Chibby' is Japanese for 'small'; the gene was so named for the RNAi phenotype seen in flies.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3