CDKN1A

cyclin dependent kinase inhibitor 1A

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]

Known Variants27 total

rsidPosition (GRCh37)AllelesClassClinVar
rs38299636:36,644,386C/Aregulatory region variant—
rs7335906:36,645,203T/Cregulatory region variant—
rs7626236:36,645,466G/Aregulatory region variant—
rs7626246:36,645,588A/G——
rs23956556:36,645,696A/T——
rs7305066:36,645,968G/Cregulatory region variant—
rs31763366:36,648,816A/G——
rs31763456:36,650,565G/Cregulatory region variant—
rs49868666:36,651,889C/T—benign
rs49868686:36,651,890G/A—likely benign
rs3750503466:36,651,937G/A—uncertain significance
rs7652488796:36,651,952T/G—uncertain significance
rs7628186506:36,651,959C/T—likely benign
rs18012706:36,651,971C/Tsynonymous variantlikely benign
rs14077420556:36,652,020C/T—pathogenic
rs12608490456:36,652,024G/C—uncertain significance
rs10197896916:36,652,032G/C—uncertain significance
rs1387470216:36,652,043C/T—likely benign
rs9849159586:36,652,118G/C—likely benign
rs349161936:36,652,129G/A—likely benign
rs1436765466:36,652,151A/T—likely benign
rs21503141356:36,652,206C/G—uncertain significance
rs1486795976:36,652,228G/A—conflicting classifications of pathogenicity
rs31763526:36,652,339C/Tintron variant—
rs7636536806:36,653,525C/G—uncertain significance
rs7810576086:36,653,544A/G—likely benign
rs10592346:36,653,597C/Tregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.