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 diff... See more...

Aliases for CBY1 Gene

Aliases for CBY1 Gene

  • Chibby Family Member 1, Beta Catenin Antagonist 2 3 5
  • PIGEA-14 2 3 4
  • PKD2 Interactor, Golgi And Endoplasmic Reticulum-Associated 1 3 4
  • Chibby CTNNB1-Mediated Transcription Inhibitor 2 3
  • Cytosolic Leucine-Rich Protein 3 4
  • Protein Chibby Homolog 1 3 4
  • ARPP-Binding Protein 3 4
  • C22orf2 3 4
  • Chibby1 2 3
  • PIGEA14 2 3
  • PGEA1 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
  • Chibby Homolog 1 3
  • HS508I15A 3
  • Chibby 2
  • Arb1 3
  • CBY1 5
  • ARB1 4
  • Cby 2

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. Diseases associated with CBY1 include Ulcerative Blepharitis and Pediatric Ependymoma. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Signaling by GPCR. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBY1 Gene

Genomics for CBY1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBY1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBY1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBY1

Top Transcription factor binding sites by QIAGEN in the CBY1 gene promoter:
  • Nkx2-5

Genomic Locations for CBY1 Gene

Genomic Locations for CBY1 Gene
chr22:38,656,636-38,673,854
(GRCh38/hg38)
Size:
17,219 bases
Orientation:
Plus strand
chr22:39,052,641-39,069,859
(GRCh37/hg19)
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 TCIM (C-terminus), TCIM competes with CTNNB1 for the interaction with CBY1 (PubMed:16424001). Interacts with FAM92A; this interaction facilitates targeting of FAM92A to cilium basal body (PubMed:27528616, PubMed:30395363). Interacts with CIBAR2 (PubMed:27528616).
    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

No data available for DME Specific Peptides for CBY1 Gene

Domains & Families for CBY1 Gene

Gene Families for CBY1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CBY1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CBY1 Gene

GenScript: Design optimal peptide antigens:
  • PKD2 interactor, Golgi and endoplasmic reticulum-associated 1 (CBY1_HUMAN)

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

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.

Phenotypes From GWAS Catalog for CBY1 Gene

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
GO:0042803 protein homodimerization activity IDA 21182262
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:
  • Cby1 Cby1<tm1Ktkm>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBY1

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. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi apparatus. Golgi apparatus, trans-Golgi network.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBY1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
golgi apparatus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CBY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 12712206
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 15194699
genes like me logo Genes that share ontologies with CBY1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CBY1 Gene

Pathways & Interactions 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
  • WNT Signaling
1 GeneTex pathway 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:0030030 cell projection organization IEA --
GO:0030154 cell differentiation IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA 12712206
GO:0033504 floor plate development 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

mRNA/cDNA for CBY1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBY1

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

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, MaxQB, and MOPED for CBY1 Gene



Protein tissue co-expression partners for CBY1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for CBY1 Gene

  • Nervous system(4.5)
  • Skin(4.5)
  • Heart(4.5)
  • Muscle(2.4)
  • Kidney(2.4)
  • Spleen(2.4)
  • Lung(2.4)
  • Intestine(2.3)
  • Liver(2.3)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with CBY1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.21 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CBY1 31
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CBY1 30 31
  • 88.36 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CBY1 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CBY1 30 31
  • 86.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cby1 30
  • 83.33 (n)
Mouse
(Mus musculus)
Mammalia Cby1 30 17 31
  • 80.42 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CBY1 30 31
  • 74.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CBY1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cby1 30
  • 69.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii cby1 30 31
  • 69.62 (n)
OneToMany
Species where no ortholog for CBY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CBY1: view image

Paralogs for CBY1 Gene

Paralogs for CBY1 Gene

(1) SIMAP similar genes for CBY1 Gene using alignment to 3 proteins:

  • CBY1_HUMAN
  • B0QY53_HUMAN
  • B0QY54_HUMAN

Pseudogenes.org Pseudogenes for CBY1 Gene

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

Variants for CBY1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBY1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs193920893 Uncertain Significance: Malignant tumor of prostate 38,673,201(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CBY1 Gene

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)

Additional Variant Information for CBY1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBY1 Gene

Disorders for CBY1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CBY1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ulcerative blepharitis
pediatric ependymoma
  • childhood ependymoma
malignant ependymoma
  • ependymal neoplasm
congenital bile acid synthesis defect
  • bile acid synthesis defect, congenital, 1
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards
Search CBY1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CBY1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CBY1: view

No data available for 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 (The Journal of biological chemistry 2004) 2 3 4 23
  2. Chibby, a nuclear beta-catenin-associated antagonist of the Wnt/Wingless pathway. (PMID: 12712206) Takemaru K … Moon RT (Nature 2003) 2 3 4
  3. BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis. (PMID: 27528616) Li FQ … Takemaru KI (Molecular and cellular biology 2016) 3 4
  4. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 41
  5. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PMID: 19019335) Velez DR … Menon R (American journal of obstetrics and gynecology 2009) 3 41

Products for CBY1 Gene

Sources for CBY1 Gene