CABLES1 Cdk5 and Abl enzyme substrate 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CABLES1provided by HGNC
Official Full Name: Cdk5 and Abl enzyme substrate 1provided by HGNC
Primary source: HGNC:HGNC:25097
See related: Ensembl:ENSG00000134508 MIM:609194; AllianceGenome:HGNC:25097
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CABL1; IK3-1; CABLES; HsT2563
Summary: This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Broad expression in lung (RPKM 9.3), fat (RPKM 7.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q11.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (23134564..23260470)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (23327896..23454570)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (20714528..20840434)

Chromosome 18 - NC_000018.10 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: 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?

CABLES1 expression is reduced in human subcutaneous adipose tissue in obesity and type 2 diabetes but may not directly impact adipocyte glucose and lipid metabolism.
Title: CABLES1 expression is reduced in human subcutaneous adipose tissue in obesity and type 2 diabetes but may not directly impact adipocyte glucose and lipid metabolism.
We have identified four potentially pathogenic missense CABLES1 variants as a novel, although infrequent, cause of Cushing's Disease in children and young adults.
Title: Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
miR199a-3p and P53 are coupled through CABLES1 and comprise a novel negative feedback loop that likely contributes to cardiac c-kit(+) cell proliferation and apoptosis.
Title: miR199a-3p regulates P53 by targeting CABLES1 in mouse cardiac c-kit(+) cells to promote proliferation and inhibit apoptosis through a negative feedback loop.
Cables1/p21 pathway has a strong effect on the induction of cell senescence and inhibition of cell growth, and acts as a novel regulatory mechanism in which p21 is probably one of several downstream effector molecules to mediate Cables1.
Title: Cables1 Inhibits Proliferation and Induces Senescence by Angiotensin II via a p21-Dependent Pathway in Human Umbilical Vein Endothelial Cells.
CABLES1 is a critical regulator of corticotrope proliferation that defines a pathway often inactivated in Cushing disease
Title: The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease.
the results suggest Cables1 as a novel p21 regulator through maintaining p21 stability and support the model that the tumor-suppressive function of Cables1 occurs at least in part through enhancing the tumor-suppressive activity of p21.
Title: Cables1 controls p21/Cip1 protein stability by antagonizing proteasome subunit alpha type 3.
Results illuminated a dynamic regulatory system through which activated Akt and 14-3-3 work directly together to neutralize a potent tumor suppressor function of Cables1.
Title: Cables1 complex couples survival signaling to the cell death machinery.
The results did not detect a significant association. It indicated that common genetic variations in CDK5 genes might not play a role in the genetic predisposition to autism.
Title: No association of polymorphisms in the CDK5, NDEL1, and LIS1 with autism in Chinese Han population.
Observational study of gene-disease association. (HuGE Navigator)
Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
Mechanisms of CABLES1 gene inactivation in ovarian cancer development are reported.
Title: Mechanisms of Cables 1 gene inactivation in human ovarian cancer development.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide and candidate gene association study of cigarette smoking behaviors. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CABLES1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of Cdk5 and Abl enzyme substrate 1 (CABLES1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:37732

A004P17 (e-PCR)
- UniSTS:12712

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
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: interactor with CDK3 1

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_001100619.3 → NP_001094089.1 CDK5 and ABL1 enzyme substrate 1 isoform 2

See identical proteins and their annotated locations for NP_001094089.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (2) with a distinct N-terminus.

Source sequence(s)

AC011731, AC105247

Consensus CDS

CCDS42417.1

UniProtKB/Swiss-Prot

B4DK60, Q8N3Y8, Q8NA22, Q8TDN4, Q9BTG1

UniProtKB/TrEMBL

A7K6Y5

Related

ENSP00000256925.7, ENST00000256925.12

Conserved Domains (1) summary

cd20602
Location:502 → 633

CYCLIN_CABLES1; cyclin box found in CDK5 and ABL1 enzyme substrate 1 (CABLES1)
NM_001256438.1 → NP_001243367.1 CDK5 and ABL1 enzyme substrate 1 isoform 3

See identical proteins and their annotated locations for NP_001243367.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and use an alternate start codon compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC011731, AC105247, AK296407

Consensus CDS

CCDS58615.1

UniProtKB/Swiss-Prot

Q8TDN4

Related

ENSP00000383321.2, ENST00000400473.6

Conserved Domains (1) summary

cd00043
Location:189 → 274

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_138375.3 → NP_612384.1 CDK5 and ABL1 enzyme substrate 1 isoform 1

See identical proteins and their annotated locations for NP_612384.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate first exon that contains the translation initiation site, resulting in an isoform (1) with a distinct N-terminus.

Source sequence(s)

AK025627, BC004124, BC015686, BC037218

Consensus CDS

CCDS42418.1

Related

ENSP00000413851.2, ENST00000420687.2

Conserved Domains (1) summary

cd00043
Location:251 → 336

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 ...

RNA

NR_023359.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate first exon and lacks three consecutive exons in the coding region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

AK025627, AK093243, BC015686, BC037218