DCLK1

doublecortin like kinase 1

Summary

This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]

Known Variants30 total

rsidPosition (GRCh37)AllelesClassClinVar
rs732827813:36,351,766A/Cintron variant—
rs75986829913:36,362,419C/G—uncertain significance
rs656316413:36,370,428G/Aintron variant—
rs91663188413:36,379,900A/G—uncertain significance
rs954542113:36,381,662T/Cintron variant—
rs57556529913:36,382,372C/T—uncertain significance
rs53550932813:36,384,973C/T—uncertain significance
rs19241984813:36,390,180A/Tintron variant—
rs13995830113:36,396,914C/T—benign
rs75899616613:36,396,958C/T—uncertain significance
rs14372501713:36,396,968G/A—benign
rs800010113:36,400,742A/C——
rs127902278013:36,413,280C/T—uncertain significance
rs14796254813:36,428,646C/T—uncertain significance
rs1242808613:36,441,099T/A——
rs77797199013:36,445,391G/A—uncertain significance
rs153954913:36,451,881C/Tintron variant—
rs205109013:36,454,193G/Aintron variant—
rs656321013:36,476,447A/Gintron variant—
rs963504313:36,519,352A/Gintron variant—
rs3406580113:36,531,548T/Cregulatory region variant—
rs798230013:36,641,930T/Cintron variant—
rs192632013:36,652,617T/G——
rs931538513:36,663,302T/C——
rs7318215513:36,666,344T/Gintron variant—
rs20095954713:36,686,229G/A—uncertain significance
rs74560025413:36,686,269C/T—uncertain significance
rs954643413:36,694,391C/Tintron variant—
rs156602286313:36,700,180C/A—uncertain significance
rs75843019013:36,700,210C/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.