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Aliases for CBY1 Gene

Aliases for CBY1 Gene

  • Chibby Homolog 1 (Drosophila) 2 3 5
  • 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
  • PIGEA-14 3 4
  • C22orf2 3 4
  • PGEA1 3 4
  • ARB1 3 4
  • CBY 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
  • HS508I15A 3
  • PIGEA14 3

External Ids for CBY1 Gene

Previous HGNC Symbols for CBY1 Gene

  • C22orf2
  • PGEA1

Previous GeneCards Identifiers for CBY1 Gene

  • GC22P037382
  • GC22P039052
  • GC22P022018

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. Among its related pathways are Signaling by Wnt 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 CTNNB1/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

Regulatory Elements for CBY1 Gene

Enhancers for CBY1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CBY1 on UCSC Golden Path with GeneCards custom track

Promoters for CBY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CBY1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for CBY1 Gene

Chromosome:
22
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

Genes around CBY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBY1 Gene

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 CTNNB1 (PubMed:12712206, PubMed:16424001). Interacts (C-terminus) with C8orf4 (C-terminus), C8orf4 competes with CTNNB1 for the interaction with CBY1 (PubMed:16424001).
    Miscellaneous:
    • Chibby is Japanese for small; the gene was so named for the RNAi phenotype seen in flies.

    Three dimensional structures from OCA and Proteopedia for CBY1 Gene

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 & Families for CBY1 Gene

Protein Domains for CBY1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CBY1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y3M2

UniProtKB/Swiss-Prot:

CBY1_HUMAN :
  • Belongs to the chibby family.
Family:
  • Belongs to the chibby family.
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 CTNNB1/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:0008013 beta-catenin binding IPI 16424001
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
golgi apparatus 5
nucleus 5
cytosol 4
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CBY1: view

Pathways & Interactions for CBY1 Gene

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

Pathways by source for CBY1 Gene

SIGNOR curated interactions for CBY1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030178 negative regulation of Wnt signaling pathway IDA 12712206
GO:0045892 negative regulation of transcription, DNA-templated IDA 12712206
GO:0090090 negative regulation of canonical Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with CBY1: view

Drugs & Compounds for CBY1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for CBY1 Gene

This gene is overexpressed in Gallbladder (47.2) and Urine (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CBY1: view

Protein tissue co-expression partners for CBY1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CBY1 Gene

Orthologs for CBY1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CBY1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CBY1 35
  • 88.36 (n)
  • 91.27 (a)
CBY1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBY1 35
  • 86.51 (n)
  • 89.68 (a)
CBY1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cby1 35
  • 80.42 (n)
  • 82.54 (a)
Cby1 16
Cby1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBY1 35
  • 99.21 (n)
  • 100 (a)
CBY1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cby1 35
  • 83.33 (n)
  • 83.33 (a)
oppossum
(Monodelphis domestica)
Mammalia CBY1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBY1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBY1 35
  • 74.4 (n)
  • 84.8 (a)
CBY1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBY1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cby1 35
  • 69.89 (n)
  • 74.19 (a)
zebrafish
(Danio rerio)
Actinopterygii cby1 35
  • 69.62 (n)
  • 75 (a)
cby1 36
  • 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

(1) 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
rs2281019 -- 38,668,373(+) AAATT(A/C/T)TTTTT intron-variant
rs2281020 -- 38,668,401(+) GTCTC(A/G)CTCCC intron-variant
rs2281021 -- 38,668,662(+) CACTG(C/T)GCCCA intron-variant
rs2413543 -- 38,662,955(+) tctct(A/C/G/T)ctaaa intron-variant
rs2413544 -- 38,663,399(+) gcatt(A/C)agaaa 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

Variation tolerance for CBY1 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.65; 13.82% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CBY1 Gene

Disorders for CBY1 Gene

Relevant External Links for CBY1

Genetic Association Database (GAD)
CBY1
Human Genome Epidemiology (HuGE) Navigator
CBY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBY1

No disorders were found for CBY1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. 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
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3
  4. 14-3-3 Binding and Sumoylation Concur to the Down-Modulation of I^-catenin Antagonist chibby 1 in Chronic Myeloid Leukemia. (PMID: 26147002) Mancini M. … Martinelli G. (PLoS ONE 2015) 3
  5. Downregulated Chibby in laryngeal squamous cell carcinoma with increased expression in laryngeal carcinoma Hep-2 cells. (PMID: 25175341) Xu J. … Luo X.Y. (Oncol. Rep. 2014) 3

Products for CBY1 Gene

Sources for CBY1 Gene

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