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Aliases for CBY1 Gene

Aliases for CBY1 Gene

  • Chibby Family Member 1, Beta Catenin Antagonist 2 3 5
  • 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
  • PKD2 Interactor, Golgi And Endoplasmic Reticulum Associated 1 2
  • Chromosome 22 Open Reading Frame 2 2
  • Chibby Homolog 1 (Drosophila) 2
  • Coiled-Coil Protein PIGEA-14 3
  • Protein Chibby Homolog 1 3
  • Chibby Homolog 1 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 Family Member 1, Beta Catenin Antagonist) is a Protein Coding gene. Among its related pathways are Signaling by Wnt and Signaling by GPCR. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F038691 0.7 ENCODE 49.4 +40.0 39984 10.9 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CBY1 ENSG00000228274 FAM227A ENSG00000230912 ENSG00000225450 SUN2 JOSD1 KDELR3 GC22M041413 PIR57458
GH22F038655 1 ENCODE 48.3 +0.1 77 2.4 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A BRCA1 ZNF121 SLC30A9 GLIS2 ZNF263 CBY1 ENSG00000228274 KDELR3 JOSD1 ENSG00000230912
GH22F038702 0.6 ENCODE 37.7 +49.0 49006 6.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 CBY1 FAM227A ENSG00000228274 JOSD1 SNORD83B GTPBP1 GC22M041369
GH22F038714 0.6 Ensembl ENCODE 34.2 +58.1 58104 1.5 SOX13 PKNOX1 SAP130 DDX20 CEBPG ZIC2 SCRT2 ZNF600 EGR2 SOX5 CBY1 ENSG00000225450 SUN2 DNAL4 JOSD1 GC22M041369 GTPBP1
GH22F038768 0.9 Ensembl ENCODE 30 +112.4 112365 0.4 ZFP64 ZNF493 GLIS2 ZNF143 ZNF202 ZNF263 MIER2 TSHZ1 REST ZNF518A SNORD83B CSNK1E TAB1 ENSG00000228274 CBY1 PRDX3P1 ENSG00000230912 SNORD83A ENSG00000230149 ENSG00000273076
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000618248 -35 2000 PKNOX1 CREB3L1 ARID4B SIN3A BRCA1 ZNF121 SLC30A9 GLIS2 ZNF263 SP3

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

Post-translational modifications for CBY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBY1 Gene

Antibody Products

  • Abcam antibodies for CBY1

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:0005515 protein binding IPI 15194699
GO:0008013 beta-catenin binding IPI 16424001
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBY1

Flow Cytometry 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:0005634 nucleus IEA,IDA 12712206
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 15194699
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:0008104 protein localization IMP 15194699
GO:0030154 cell differentiation IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA 12712206
GO:0045444 fat cell differentiation IEA,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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBY1

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CBY1 Gene



Protein tissue co-expression partners for CBY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CBY1 Gene:

CBY1

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

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
chimpanzee
(Pan troglodytes)
Mammalia CBY1 34 35
  • 99.21 (n)
oppossum
(Monodelphis domestica)
Mammalia CBY1 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CBY1 34 35
  • 88.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CBY1 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBY1 34 35
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Cby1 34
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Cby1 34 16 35
  • 80.42 (n)
chicken
(Gallus gallus)
Aves CBY1 34 35
  • 74.4 (n)
lizard
(Anolis carolinensis)
Reptilia CBY1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cby1 34
  • 69.89 (n)
zebrafish
(Danio rerio)
Actinopterygii cby1 34 35
  • 69.62 (n)
Species where no ortholog for CBY1 was found in the sources mined by GeneCards:
  • 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
rs193920893 Uncertain significance 38,673,201(+) AGGAA(C/G)TGGAT reference, missense
rs1065201 -- 38,673,505(+) CTTTT(C/T)GGTGC utr-variant-3-prime
rs1065208 -- 38,673,619(+) TTTGG(C/G)GTGTG utr-variant-3-prime
rs111250990 -- 38,669,320(+) GCCCC(A/G)TGTGA intron-variant
rs111516542 -- 38,657,164(+) TTATG(G/T)CCTGT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2724232 CNV deletion 23290073
esv3558161 CNV deletion 23714750
nsv508733 CNV insertion 20534489

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)

Relevant External Links for CBY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 22 64
  2. Chibby, a nuclear beta-catenin-associated antagonist of the Wnt/Wingless pathway. (PMID: 12712206) Takemaru K. … Moon R.T. (Nature 2003) 2 3 4 64
  3. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman K.K. … Jacobsson B. (PLoS ONE 2010) 3 46 64
  4. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PMID: 19019335) Velez D.R. … Menon R. (Am. J. Obstet. Gynecol. 2009) 3 46 64
  5. Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants. (PMID: 19527514) Menon R. … Thorsen P. (Reprod. Biol. Endocrinol. 2009) 3 46 64

Products for CBY1 Gene

Sources for CBY1 Gene

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