Cables1 CDK5 and Abl enzyme substrate 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cables1provided by MGI
Official Full Name: CDK5 and Abl enzyme substrate 1provided by MGI
Primary source: MGI:MGI:1927065
See related: Ensembl:ENSMUSG00000040957 AllianceGenome:MGI:1927065
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: ik3-1; Cables
Summary: Acts upstream of or within nervous system development. Predicted to be located in nucleoplasm. Predicted to be active in cytosol. Is expressed in several structures, including central nervous system; genitourinary system; liver; retina; and vibrissa. Orthologous to human CABLES1 (Cdk5 and Abl enzyme substrate 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in ovary adult (RPKM 61.9), colon adult (RPKM 22.8) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 5.88 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (11972600..12078681)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (11839274..11945627)

Chromosome 18 - NC_000084.7 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
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?

Overexpression and short hairpin RNA-mediated depletion of CABLES1 protein resulted in p21(Cip/waf) up- and down-regulation. Aged mice lacking Cables1 displayed abnormalities in peripheral blood cell counts accompanied by a significant reduction in hematopoietic stem cells compartment, concomitant with an increased mobilization of progenitor cells.
Title: CABLES1 Deficiency Impairs Quiescence and Stress Responses of Hematopoietic Stem Cells in Intrinsic and Extrinsic Manners.
Loss of Cables1 enhances tumor progression in the Apc(Min/+) mouse model and activates the Wnt/beta-catenin signaling pathway. Cables1 is a tumor suppressor gene on chromosome 18q in this in vivo mouse model.
Title: Cables1 is a tumor suppressor gene that regulates intestinal tumor progression in Apc(Min) mice.
Agenesis of the corpus callosum frequency in Cables1(+/TAS) mice was significantly lower than that in Cables1(-/TAS) mice, indicating that wild-type Cables1 interfered with the dominant negative effect of Cables1(TAS).
Title: Truncated Cables1 causes agenesis of the corpus callosum in mice.
Data show that oocytes lacking Cables1 exhibit lower basal levels of TAp63alpha and reduced accumulation of phosphorylated TAp63alpha in response to genotoxic stress.
Title: Cables1 protects p63 from proteasomal degradation to ensure deletion of cells after genotoxic stress.
Cables1 null mice exhibit a significant expansion of oocyte numbers at the expense of oocyte quality throughout adulthood.
Title: Loss of CABLES1, a cyclin-dependent kinase-interacting protein that inhibits cell cycle progression, results in germline expansion at the expense of oocyte quality in adult female mice.
Cables is a relevant target of the chromosome 18q deletions frequently seen in human colorectal cancer.
Title: The Cables gene on chromosome 18Q regulates colon cancer progression in vivo.
Loss or suppression of Cables may be an early step in the development of endometrial cancer.
Title: Loss of cables, a cyclin-dependent kinase regulatory protein, is associated with the development of endometrial hyperplasia and endometrial cancer.
Cables may be involved in the pathogenesis of ovarian carcinomas
Title: Loss of cables, a novel gene on chromosome 18q, in ovarian cancer.

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Variation

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Alleles

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

Targeted (2) 1 citation
Transgenic (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126764 (e-PCR)
- UniSTS:167232

D1S2881 (e-PCR), detects polymorphism
- UniSTS:18888

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within G1/S transition of mitotic cell cycle	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell division	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell cycle	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CDK5 and ABL1 enzyme substrate 1

Names: cdk3-binding protein ik3-1; interactor with CDK3 1; interactor-1 with cdk3

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_001146287.2 → NP_001139759.1 CDK5 and ABL1 enzyme substrate 1 isoform 1

See identical proteins and their annotated locations for NP_001139759.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC100751, AC132941

Consensus CDS

CCDS50220.1

UniProtKB/TrEMBL

Q3TYS6, Q3U148

Related

ENSMUSP00000129463.2, ENSMUST00000171109.9

Conserved Domains (1) summary

cd00043
Location:477 → 562

CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
NM_022021.3 → NP_071304.2 CDK5 and ABL1 enzyme substrate 1 isoform 2

See identical proteins and their annotated locations for NP_071304.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. This difference results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC100751, AC132941

Consensus CDS

CCDS29061.1

UniProtKB/Swiss-Prot

E9QNI6, Q9EPR8, Q9ESJ1

UniProtKB/TrEMBL

B2RWU9

Related

ENSMUSP00000040639.8, ENSMUST00000046948.10

Conserved Domains (1) summary

cd20602
Location:437 → 568

CYCLIN_CABLES1; cyclin box found in CDK5 and ABL1 enzyme substrate 1 (CABLES1)