CABLES1

Chr 18

Cdk5 and Abl enzyme substrate 1

Also known as: CABL1, CABLES, HsT2563, IK3-1

NCBI Gene: 91768 ENSG00000134508 UniProt: Q8TDN4

The CABLES1 protein regulates cell cycle progression by binding to cyclin-dependent kinases and enhancing their tyrosine phosphorylation, which is critical for neuronal development and outgrowth. Mutations in CABLES1 cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene is moderately constrained against loss-of-function variants, primarily affecting the nervous system during early development.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429