CABLES1 (Cdk5 and Abl enzyme substrate 1)

2003-02-01 Affiliation

Identity

HGNC

CABLES1

LOCATION

18q11.2

LOCUSID

91768

ALIAS

CABL1,CABLES,HsT2563,IK3-1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 91768
MIM: 609194
HGNC: 25097
Ensembl: ENSG00000134508

Variants:

dbSNP: 91768
ClinVar: 91768
TCGA: ENSG00000134508
COSMIC: CABLES1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134508	ENST00000256925	Q8TDN4
ENSG00000134508	ENST00000256925	A7K6Y5
ENSG00000134508	ENST00000400473	Q8TDN4
ENSG00000134508	ENST00000420687	Q8TDN4
ENSG00000134508	ENST00000420687	A0A024RC20
ENSG00000134508	ENST00000579963	J3QRY5
ENSG00000134508	ENST00000580153	A0A0G2JLG8
ENSG00000134508	ENST00000582882	V9GYB4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231

References

Pubmed ID	Year	Title	Citations
19266077	2009	Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.	48
25361894	2015	Cables1 complex couples survival signaling to the cell death machinery.	24
24975575	2015	Cables1 controls p21/Cip1 protein stability by antagonizing proteasome subunit alpha type 3.	23
20546612	2010	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	19
17982127	2007	The Cables gene on chromosome 18q is silenced by promoter hypermethylation and allelic loss in human colorectal cancer.	13
18059193	2008	Mechanisms of Cables 1 gene inactivation in human ovarian cancer development.	10
28533356	2017	Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.	10
28583208	2017	miR199a-3p regulates P53 by targeting CABLES1 in mouse cardiac c-kit⁺ cells to promote proliferation and inhibit apoptosis through a negative feedback loop.	7
16177568	2005	Aberrant splicing of cables gene, a CDK regulator, in human cancers.	6
26695862	2016	The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease.	6

Citation

Dessen P

CABLES1 (Cdk5 and Abl enzyme substrate 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/900/cables1-(cdk5-and-abl-enzyme-substrate-1)