• Gene id: 25776

Gene Summary

• Gene Symbol: CBY1   Gene   UCSC   Ensembl
• Aliases: C22orf2, CBY, Chibby1, HS508I15A, PGEA1, PIGEA-14, PIGEA14, arb1
• Gene name: chibby family member 1, beta catenin antagonist
• Alternate names: protein chibby homolog 1, ARPP-binding protein, PKD2 interactor, Golgi and endoplasmic reticulum-associated 1, chibby CTNNB1-mediated transcription inhibitor, chibby homolog 1, coiled-coil protein PIGEA-14, cytosolic leucine-rich protein, polycystin-2 interactor,
• Gene location: 22q13.1 (38656652: 38673849)     Exons: 6     NC_000022.11
• Gene summary(Entrez): 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 transcri
• OMIM: 607757

Protein Summary

• Protein general information: Q9Y3M2  
  • Name: Protein chibby homolog 1 (ARPP binding protein) (Cytosolic leucine rich protein) (PIGEA 14) (PKD2 interactor, Golgi and endoplasmic reticulum associated 1)
  • Length: 126  
  • Mass: 14470
  • 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. {ECO
• Sequence:

  MPFFGNTFSPKKTPPRKSASLSNLHSLDRSTREVELGLEYGSPTMNLAGQSLKFENGQWIAETGVSGGVDRREVQ
  RLRRRNQQLEEENNLLRLKVDILLDMLSESTAESHLMEKELDELRISRKRK

• Structural information:
  • Interpro: IPR028118  
  • CDD: cd07429
  • PDB: 4WRQ
  • PDBsum: 4WRQ
  • DIP: 29651
  • STRING: ENSP00000478962
• Other Databases: GeneCards:  CBY1  Malacards:  CBY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0005814	centriole	IDA	cellular component
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045444	fat cell differentiation	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0008104	protein localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881