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Aliases for CBY1 Gene

Aliases for CBY1 Gene

  • Chibby Homolog 1 (Drosophila) 2 3
  • C22orf2 3 4 6
  • CBY 3 4 6
  • PKD2 Interactor, Golgi And Endoplasmic Reticulum Associated 1 2 3
  • PKD2 Interactor, Golgi And Endoplasmic Reticulum-Associated 1 3 4
  • Chibby CTNNB1-Mediated Transcription Inhibitor 2 3
  • Cytosolic Leucine-Rich Protein 3 4
  • ARPP-Binding Protein 3 4
  • HS508I15A 3 6
  • PIGEA-14 3 4
  • PGEA1 3 4
  • ARB1 3 4
  • Polycystin-2 Interactor, Golgi- And Endoplasmic Reticulum-Associated Protein, 14 KDa 3
  • Chromosome 22 Open Reading Frame 2 2
  • Coiled-Coil Protein PIGEA-14 3
  • Protein Chibby Homolog 1 3
  • PIGEA14 3

External Ids for CBY1 Gene

Previous Symbols for CBY1 Gene

  • C22orf2
  • PGEA1

Summaries for CBY1 Gene

Entrez Gene Summary for CBY1 Gene

  • Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CBY1 Gene

CBY1 (Chibby Homolog 1 (Drosophila)) is a Protein Coding gene. Diseases associated with CBY1 include pediatric ependymoma. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and WNT Signaling. GO annotations related to this gene include identical protein binding and beta-catenin binding. An important paralog of this gene is CBY3.

UniProtKB/Swiss-Prot for CBY1 Gene

  • 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.

Gene Wiki entry for CBY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBY1 Gene

Genomics for CBY1 Gene

Genomic Location for CBY1 Gene

Start:
38,656,636 bp from pter
End:
38,673,854 bp from pter
Size:
17,219 bases
Orientation:
Plus strand

Genomic View for CBY1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBY1 Gene

Regulatory Elements for CBY1 Gene

Transcription factor binding sites by QIAGEN in the CBY1 gene promoter:

Proteins for CBY1 Gene

  • Protein details for CBY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3M2-CBY1_HUMAN
    Recommended name:
    Protein chibby homolog 1
    Protein Accession:
    Q9Y3M2
    Secondary Accessions:
    • B2R4S2
    • Q66GT6
    • Q9UIK9

    Protein attributes for CBY1 Gene

    Size:
    126 amino acids
    Molecular mass:
    14470 Da
    Quaternary structure:
    • Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of beta-catenin.
    Miscellaneous:
    • Chibby is Japanese for small; the gene was so named for the RNAi phenotype seen in flies

neXtProt entry for CBY1 Gene

Proteomics data for CBY1 Gene at MOPED

Post-translational modifications for CBY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBY1 Gene

No data available for DME Specific Peptides for CBY1 Gene

Domains for CBY1 Gene

Protein Domains for CBY1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

CBY1_HUMAN
Family:
  • Belongs to the chibby family.:
    • Q9Y3M2
genes like me logo Genes that share domains with CBY1: view

No data available for Gene Families for CBY1 Gene

Function for CBY1 Gene

Molecular function for CBY1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15194699
GO:0008013 beta-catenin binding IDA 12712206
GO:0042802 identical protein binding IPI 15194699
genes like me logo Genes that share ontologies with CBY1: view
genes like me logo Genes that share phenotypes with CBY1: view

Animal Models for CBY1 Gene

MGI Knock Outs for CBY1:

miRNA for CBY1 Gene

miRTarBase miRNAs that target CBY1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CBY1 Gene

Localization for CBY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBY1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBY1 Gene COMPARTMENTS Subcellular localization image for CBY1 gene
Compartment Confidence
nucleus 5
golgi apparatus 3
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12712206
GO:0005654 nucleoplasm TAS --
GO:0005802 trans-Golgi network IDA 15194699
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with CBY1: view

Pathways for CBY1 Gene

genes like me logo Genes that share pathways with CBY1: view

Pathways by source for CBY1 Gene

1 Qiagen pathway for CBY1 Gene

Gene Ontology (GO) - Biological Process for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IMP 15194699
GO:0030178 negative regulation of Wnt signaling pathway IDA 12712206
GO:0042384 cilium assembly --
GO:0045444 fat cell differentiation ISS --
GO:0045892 negative regulation of transcription, DNA-templated IDA 12712206
genes like me logo Genes that share ontologies with CBY1: view

Transcripts for CBY1 Gene

Unigene Clusters for CBY1 Gene

Chibby homolog 1 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CBY1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d
SP1: - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - - - - -
SP8: - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - -

Relevant External Links for CBY1 Gene

GeneLoc Exon Structure for
CBY1
ECgene alternative splicing isoforms for
CBY1

Expression for CBY1 Gene

mRNA expression in normal human tissues for CBY1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBY1 Gene

SOURCE GeneReport for Unigene cluster for CBY1 Gene Hs.334911

mRNA Expression by UniProt/SwissProt for CBY1 Gene

Q9Y3M2-CBY1_HUMAN
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.
genes like me logo Genes that share expressions with CBY1: view

Orthologs for CBY1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBY1 36
  • 99.21 (n)
  • 100 (a)
CBY1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBY1 36
  • 88.36 (n)
  • 91.27 (a)
CBY1 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBY1 36
  • 86.51 (n)
  • 89.68 (a)
CBY1 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cby1 36
  • 80.42 (n)
  • 82.54 (a)
Cby1 16
Cby1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CBY1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBY1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cby1 36
  • 83.33 (n)
  • 83.33 (a)
chicken
(Gallus gallus)
Aves CBY1 36
  • 74.4 (n)
  • 84.8 (a)
CBY1 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBY1 37
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cby1 36
  • 69.89 (n)
  • 74.19 (a)
zebrafish
(Danio rerio)
Actinopterygii cby1 36
  • 69.62 (n)
  • 75 (a)
cby1 37
  • 75 (a)
OneToMany
Species with no ortholog for CBY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBY1 Gene

ENSEMBL:
Gene Tree for CBY1 (if available)
TreeFam:
Gene Tree for CBY1 (if available)

Paralogs for CBY1 Gene

Paralogs for CBY1 Gene

Selected SIMAP similar genes for CBY1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CBY1 Gene

genes like me logo Genes that share paralogs with CBY1: view

Variants for CBY1 Gene

Sequence variations from dbSNP and Humsavar for CBY1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs138690 -- 38,660,806(+) ATCTC(-/G)CCTCA intron-variant
rs1065201 -- 38,673,505(+) CTTTT(C/T)GGTGC utr-variant-3-prime
rs1065208 -- 38,673,619(+) TTTGG(C/G)GTGTG utr-variant-3-prime
rs2072795 -- 38,668,204(+) GGAAA(A/G)TGTGG intron-variant
rs2072796 -- 38,668,225(+) GCATC(A/G)GTGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBY1 Gene

Variant ID Type Subtype PubMed ID
nsv508733 CNV Insertion 20534489
nsv915067 CNV Loss 21882294
esv2724232 CNV Deletion 23290073

Relevant External Links for CBY1 Gene

HapMap Linkage Disequilibrium report
CBY1

Disorders for CBY1 Gene

(1) MalaCards Diseases for CBY1 Gene

Search for CBY1 Gene in MalaCards »

Relevant External Links for CBY1

Genetic Association Database (GAD)
CBY1
Human Genome Epidemiology (HuGE) Navigator
CBY1
genes like me logo Genes that share disorders with CBY1: view

No data available for UniProtKB/Swiss-Prot for CBY1 Gene

Publications for CBY1 Gene

  1. PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2. (PMID: 15194699) Hidaka S. … Witzgall R. (J. Biol. Chem. 2004) 2 3 4 23
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  4. Is the gene encoding Chibby implicated as a tumour suppressor in colorectal cancer ? (PMID: 15245581) Gad S. … Laurent-Puig P. (BMC Cancer 2004) 3 23
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4

Products for CBY1 Gene

Sources for CBY1 Gene

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