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CDKN1A cyclin dependent kinase inhibitor 1A

Gene ID: 1026, updated on 8-Mar-2025
Gene type: protein coding
Also known as: P21; CIP1; SDI1; WAF1; CAP20; CDKN1; MDA-6; p21CIP1

Summary

This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
GeneReviews: Not available
Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.
GeneReviews: Not available
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
GeneReviews: Not available
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
GeneReviews: Not available
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available

Genomic context

Location:
6p21.2
Sequence:
Chromosome: 6; NC_000006.12 (36676463..36687332)
Total number of exons:
6

Links

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