CABLES1 (Cdk5 and Abl enzyme substrate 1)

2003-02-01  

Identity

HGNC
LOCATION
18q11.2
LOCUSID
ALIAS
CABL1,CABLES,HsT2563,IK3-1
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134508ENST00000256925Q8TDN4
ENSG00000134508ENST00000256925A7K6Y5
ENSG00000134508ENST00000400473Q8TDN4
ENSG00000134508ENST00000420687Q8TDN4
ENSG00000134508ENST00000420687A0A024RC20
ENSG00000134508ENST00000579963J3QRY5
ENSG00000134508ENST00000580153A0A0G2JLG8
ENSG00000134508ENST00000582882V9GYB4

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

References

Pubmed IDYearTitleCitations
375556652023CABLES1 expression is reduced in human subcutaneous adipose tissue in obesity and type 2 diabetes but may not directly impact adipocyte glucose and lipid metabolism.0
375556652023CABLES1 expression is reduced in human subcutaneous adipose tissue in obesity and type 2 diabetes but may not directly impact adipocyte glucose and lipid metabolism.0
281186392017Cables1 Inhibits Proliferation and Induces Senescence by Angiotensin II via a p21-Dependent Pathway in Human Umbilical Vein Endothelial Cells.4
285333562017Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.29
285832082017miR199a-3p regulates P53 by targeting CABLES1 in mouse cardiac c-kit(+) cells to promote proliferation and inhibit apoptosis through a negative feedback loop.11
281186392017Cables1 Inhibits Proliferation and Induces Senescence by Angiotensin II via a p21-Dependent Pathway in Human Umbilical Vein Endothelial Cells.4
285333562017Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.29
285832082017miR199a-3p regulates P53 by targeting CABLES1 in mouse cardiac c-kit(+) cells to promote proliferation and inhibit apoptosis through a negative feedback loop.11
266958622016The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease.20
266958622016The Cables1 Gene in Glucocorticoid Regulation of Pituitary Corticotrope Growth and Cushing Disease.20
249755752015Cables1 controls p21/Cip1 protein stability by antagonizing proteasome subunit alpha type 3.29
253618942015Cables1 complex couples survival signaling to the cell death machinery.29
249755752015Cables1 controls p21/Cip1 protein stability by antagonizing proteasome subunit alpha type 3.29
253618942015Cables1 complex couples survival signaling to the cell death machinery.29
218902152011No association of polymorphisms in the CDK5, NDEL1, and LIS1 with autism in Chinese Han population.2

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)