Cby1 chibby family member 1, beta catenin antagonist [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cby1provided by MGI
Official Full Name: chibby family member 1, beta catenin antagonistprovided by MGI
Primary source: MGI:MGI:1920989
See related: Ensembl:ENSMUSG00000022428 AllianceGenome:MGI:1920989
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CBY; arb1; Pgea1; PGEA14; 1110014P06Rik
Summary: Predicted to enable beta-catenin binding activity and protein homodimerization activity. Involved in cardiac muscle cell differentiation and fat cell differentiation. Acts upstream of or within cilium assembly; floor plate development; and negative regulation of canonical Wnt signaling pathway. Located in centriole and ciliary basal body. Is expressed in heart; liver; lung; and olfactory epithelium. Used to study otitis media and primary ciliary dyskinesia. Orthologous to human CBY1 (chibby family member 1, beta catenin antagonist). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 22.6), CNS E14 (RPKM 12.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E1; 15 37.84 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (79543437..79551861)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (79659103..79667660)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatitis.
Title: Loss of the ciliary protein Chibby1 in mice leads to exocrine pancreatic degeneration and pancreatitis.
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.
Cby1 is required for efficient recruitment of Ahi1, providing a possible molecular mechanism for the ciliogenesis defect in Cby1(-/-) cells.
Title: Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within floor plate development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in protein localization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein chibby homolog 1

Names: PKD2 interactor, Golgi and endoplasmic reticulum-associated 1; PKD2 interactor, golgi and endoplasmic reticulum associated 1; chibby homolog 1; cytosolic leucine-rich protein

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.

mRNA and Protein(s)

NM_001418672.1 → NP_001405601.1 protein chibby homolog 1 isoform 1

Status: VALIDATED

Source sequence(s)

AC117806, AC118227

UniProtKB/Swiss-Prot

Q9D1C2
NM_001418673.1 → NP_001405602.1 protein chibby homolog 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC117806, AC118227
NM_001418674.1 → NP_001405603.1 protein chibby homolog 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC117806, AC118227
NM_001418676.1 → NP_001405605.1 protein chibby homolog 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC117806, AC118227
NM_028634.4 → NP_082910.1 protein chibby homolog 1 isoform 1

See identical proteins and their annotated locations for NP_082910.1

Status: VALIDATED

Source sequence(s)

AC117806, AC118227

Consensus CDS

CCDS27645.1

UniProtKB/Swiss-Prot

Q9D1C2

Related

ENSMUSP00000023064.8, ENSMUST00000023064.9

Conserved Domains (1) summary

pfam14645
Location:1 → 114

Chibby; Chibby family