CBY1 chibby 1, beta catenin antagonist [Homo sapiens (human)] - Gene

Summary

Official Symbol: CBY1provided by HGNC
Official Full Name: chibby 1, beta catenin antagonistprovided by HGNC
Primary source: HGNC:HGNC:1307
See related: Ensembl:ENSG00000100211 MIM:607757; AllianceGenome:HGNC:1307
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CBY; arb1; PGEA1; C22orf2; Chibby1; PIGEA14; PIGEA-14; HS508I15A
Summary: 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]
Expression: Ubiquitous expression in prostate (RPKM 16.6), adrenal (RPKM 16.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38656638..38673850)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (39126822..39144043)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (39052643..39069855)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Title: Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
A novel Lnc408 maintains breast cancer stem cell stemness by recruiting SP3 to suppress CBY1 transcription and increasing nuclear beta-catenin levels.
Title: A novel Lnc408 maintains breast cancer stem cell stemness by recruiting SP3 to suppress CBY1 transcription and increasing nuclear β-catenin levels.
Chibby expression was decreased in gastric cancer samples and altered beta-catenin localization in cultured gastric cancer cells.
Title: Chibby is a weak regulator of β-catenin activity in gastric epithelium.
Our study reveals an association between Chibby expression and cancer aerobic glycolysis, which highlights the importance of Wnt/beta-catenin pathway in regulation of energy metabolism of NPC. These results indicate that Chibby and PDK1 are the potential target for NPC treatment.
Title: Chibby suppresses aerobic glycolysis and proliferation of nasopharyngeal carcinoma via the Wnt/β-catenin-Lin28/let7-PDK1 cascade.
FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes.
Title: BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis.
chronic Cby1 knockdown in colon cancer cells may counteract tumor progression by promoting the mesenchymal-to-epithelial transition process.
Title: Chibby1 knockdown promotes mesenchymal-to-epithelial transition-like changes.
Cby's C-terminal domain alone binds to TC-1 with significantly greater affinity compared to full-length Cby, implying that target binding of the coiled-coil domain is affected by the flanking disordered regions.
Title: Conformational characterization of the intrinsically disordered protein Chibby: Interplay between structural elements in target recognition.
CBY1 downregulation in CML comes from reduced protein stability when bound to 14-3-3sigma adapter protein. Dissociation raises CBY1 protein levels by enhancing its stability. The ubiquitin proteasome system reduces 14-3-3sigma-bound CBY1 stability by SUMOylation.
Title: 14-3-3 Binding and Sumoylation Concur to the Down-Modulation of β-catenin Antagonist chibby 1 in Chronic Myeloid Leukemia.
Results show the hypermethylation of CBY1 and BCL2-like11 promoters proceeding from DNMT1 is a crucial component of their reduced expression, but it is not directly involved in chronic myeloid leukemia resistance to imatinib.
Title: DNA methyltransferase 1 drives transcriptional down-modulation of β catenin antagonist Chibby1 associated with the BCR-ABL1 gene of chronic myeloid leukemia.
Study showed that expression of Cby protein was strongly downregulated in laryngeal squamous cell carcinoma (LSCC) tumor tissues in comparison to normal laryngeal mucosa samples.
Title: Downregulated Chibby in laryngeal squamous cell carcinoma with increased expression in laryngeal carcinoma Hep-2 cells.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in floor plate development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein chibby homolog 1

Names: ARPP-binding protein; PKD2 interactor, Golgi and endoplasmic reticulum-associated 1; chibby CTNNB1-mediated transcription inhibitor; chibby family member 1, beta catenin antagonist; chibby homolog 1; coiled-coil protein PIGEA-14; cytosolic leucine-rich protein; polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_047138.1 RefSeqGene

Range

4986..22198

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001002880.4 → NP_001002880.3 protein chibby homolog 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL021707, AU099418, BC016139, CD626926

Consensus CDS

CCDS13974.1

UniProtKB/Swiss-Prot

B2R4S2, Q66GT6, Q9UIK9, Q9Y3M2

UniProtKB/TrEMBL

B0QY54

Related

ENSP00000380026.2, ENST00000396811.6

Conserved Domains (1) summary

pfam14645
Location:1 → 114

Chibby; Chibby family
NM_015373.4 → NP_056188.1 protein chibby homolog 1

See identical proteins and their annotated locations for NP_056188.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL021707, AL136686, BC016139, CD702742

Consensus CDS

CCDS13974.1

UniProtKB/Swiss-Prot

B2R4S2, Q66GT6, Q9UIK9, Q9Y3M2

UniProtKB/TrEMBL

B0QY54

Related

ENSP00000216029.3, ENST00000216029.8

Conserved Domains (1) summary

pfam14645
Location:1 → 114

Chibby; Chibby family