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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7328278 | 13:36,351,766 | A/C | intron variant | — |
| rs759868299 | 13:36,362,419 | C/G | — | uncertain significance |
| rs6563164 | 13:36,370,428 | G/A | intron variant | — |
| rs916631884 | 13:36,379,900 | A/G | — | uncertain significance |
| rs9545421 | 13:36,381,662 | T/C | intron variant | — |
| rs575565299 | 13:36,382,372 | C/T | — | uncertain significance |
| rs535509328 | 13:36,384,973 | C/T | — | uncertain significance |
| rs192419848 | 13:36,390,180 | A/T | intron variant | — |
| rs139958301 | 13:36,396,914 | C/T | — | benign |
| rs758996166 | 13:36,396,958 | C/T | — | uncertain significance |
| rs143725017 | 13:36,396,968 | G/A | — | benign |
| rs8000101 | 13:36,400,742 | A/C | — | — |
| rs1279022780 | 13:36,413,280 | C/T | — | uncertain significance |
| rs147962548 | 13:36,428,646 | C/T | — | uncertain significance |
| rs12428086 | 13:36,441,099 | T/A | — | — |
| rs777971990 | 13:36,445,391 | G/A | — | uncertain significance |
| rs1539549 | 13:36,451,881 | C/T | intron variant | — |
| rs2051090 | 13:36,454,193 | G/A | intron variant | — |
| rs6563210 | 13:36,476,447 | A/G | intron variant | — |
| rs9635043 | 13:36,519,352 | A/G | intron variant | — |
| rs34065801 | 13:36,531,548 | T/C | regulatory region variant | — |
| rs7982300 | 13:36,641,930 | T/C | intron variant | — |
| rs1926320 | 13:36,652,617 | T/G | — | — |
| rs9315385 | 13:36,663,302 | T/C | — | — |
| rs73182155 | 13:36,666,344 | T/G | intron variant | — |
| rs200959547 | 13:36,686,229 | G/A | — | uncertain significance |
| rs745600254 | 13:36,686,269 | C/T | — | uncertain significance |
| rs9546434 | 13:36,694,391 | C/T | intron variant | — |
| rs1566022863 | 13:36,700,180 | C/A | — | uncertain significance |
| rs758430190 | 13:36,700,210 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.