Q9Y3M2 (CBY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 111.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 126 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.11 Ref.12 |
| Subunit structure | Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of beta-catenin. Ref.11 Ref.12 |
| Subcellular location | Nucleus speckle. Golgi apparatus › trans-Golgi network. Note: Nuclear, in a punctate manner. Also found in the trans-Golgi. Ref.11 Ref.12 |
| Tissue specificity | 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. Ref.11 |
| Miscellaneous | 'Chibby' is Japanese for 'small'; the gene was so named for the RNAi phenotype seen in flies. |
| Sequence similarities | Belongs to the chibby family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 126 | 126 | Protein chibby homolog 1 | PRO_0000058354 | |||||
Regions | |||||||||
| Region | 60 – 112 | 53 | Minimal region for the interaction with PKD2 | ||||||
| Coiled coil | 67 – 125 | 59 | Potential | ||||||
Experimental info | |||||||||
| Sequence conflict | 73 | 1 | E → K in AAL56062. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] 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] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] 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. 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. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00022269. |
| RefSeq | NP_001002880.2. NM_001002880.1. NP_056188.1. NM_015373.3. |
| UniGene | Hs.334911. Hs.741502. |
3D structure databases | |
| ProteinModelPortal | Q9Y3M2. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29651N. |
| IntAct | Q9Y3M2. 4 interactions. |
| MINT | MINT-2871551. |
| STRING | 9606.ENSP00000216029. |
PTM databases | |
| PhosphoSite | Q9Y3M2. |
Polymorphism databases | |
| DMDM | 20454882. |
Proteomic databases | |
| PaxDb | Q9Y3M2. |
| PRIDE | Q9Y3M2. |
Protocols and materials databases | |
| DNASU | 25776. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000216029; ENSP00000216029; ENSG00000100211. ENST00000396811; ENSP00000380026; ENSG00000100211. |
| GeneID | 25776. |
| KEGG | hsa:25776. |
| UCSC | uc003awb.3. human. |
Organism-specific databases | |
| CTD | 25776. |
| GeneCards | GC22P039052. |
| HGNC | HGNC:1307. CBY1. |
| MIM | 607757. gene. |
| neXtProt | NX_Q9Y3M2. |
| PharmGKB | PA25886. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG39404. |
| HOGENOM | HOG000006694. |
| HOVERGEN | HBG050816. |
| InParanoid | Q9Y3M2. |
| OMA | LRKRNQQ. |
| OrthoDB | EOG4JT072. |
| PhylomeDB | Q9Y3M2. |
Gene expression databases | |
| ArrayExpress | Q9Y3M2. |
| Bgee | Q9Y3M2. |
| CleanEx | HS_CBY1. |
| Genevestigator | Q9Y3M2. |
| GermOnline | ENSG00000100211. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 25776. |
| NextBio | 46914. |
| SOURCE | Search... |
Entry information
| Entry name | CBY1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y3M2 Secondary accession number(s): B2R4S2, Q66GT6, Q9UIK9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
