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/Guncertain significance
rs656316413:36,370,428G/Aintron variant
rs91663188413:36,379,900A/Guncertain significance
rs954542113:36,381,662T/Cintron variant
rs57556529913:36,382,372C/Tuncertain significance
rs53550932813:36,384,973C/Tuncertain significance
rs19241984813:36,390,180A/Tintron variant
rs13995830113:36,396,914C/Tbenign
rs75899616613:36,396,958C/Tuncertain significance
rs14372501713:36,396,968G/Abenign
rs800010113:36,400,742A/C
rs127902278013:36,413,280C/Tuncertain significance
rs14796254813:36,428,646C/Tuncertain significance
rs1242808613:36,441,099T/A
rs77797199013:36,445,391G/Auncertain 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/Auncertain significance
rs74560025413:36,686,269C/Tuncertain significance
rs954643413:36,694,391C/Tintron variant
rs156602286313:36,700,180C/Auncertain significance
rs75843019013:36,700,210C/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.