CSE1L
chromosome segregation 1 like
Summary
Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6090940 | 20:47,666,027 | G/T | upstream gene variant | — |
| rs2064853 | 20:47,675,176 | T/G | — | — |
| rs6095417 | 20:47,678,201 | G/T | — | — |
| rs2091865760 | 20:47,679,759 | G/A | — | uncertain significance |
| rs145805814 | 20:47,679,880 | T/G | — | uncertain significance |
| rs1024466852 | 20:47,682,783 | A/G | — | uncertain significance |
| rs763077862 | 20:47,682,981 | G/A | — | uncertain significance |
| rs1319510841 | 20:47,683,783 | A/T | — | uncertain significance |
| rs1331056255 | 20:47,683,785 | G/T | — | uncertain significance |
| rs11906283 | 20:47,684,868 | G/A | intron variant | — |
| rs2515649709 | 20:47,685,253 | C/T | — | uncertain significance |
| rs983157560 | 20:47,686,753 | A/T | — | uncertain significance |
| rs1290509499 | 20:47,686,769 | A/G | — | uncertain significance |
| rs944282394 | 20:47,686,783 | G/A | — | uncertain significance |
| rs2515655285 | 20:47,688,937 | A/G | — | uncertain significance |
| rs2515655354 | 20:47,688,974 | A/G | — | uncertain significance |
| rs778519524 | 20:47,689,222 | A/G | — | uncertain significance |
| rs772400707 | 20:47,691,906 | A/G | — | uncertain significance |
| rs754442648 | 20:47,691,971 | G/A | — | uncertain significance |
| rs963788829 | 20:47,700,569 | A/G | — | uncertain significance |
| rs761357425 | 20:47,700,588 | C/T | — | uncertain significance |
| rs1173088804 | 20:47,700,662 | C/T | — | uncertain significance |
| rs145901767 | 20:47,700,665 | C/T | — | uncertain significance |
| rs2075677 | 20:47,701,024 | A/G | intron variant | — |
| rs7264419 | 20:47,701,309 | A/G | intron variant | — |
| rs2092046528 | 20:47,701,828 | C/T | — | uncertain significance |
| rs2515673754 | 20:47,701,887 | C/A | — | uncertain significance |
| rs372016863 | 20:47,704,635 | G/A | — | uncertain significance |
| rs778127732 | 20:47,706,089 | G/A | — | uncertain significance |
| rs2515680345 | 20:47,706,180 | T/G | — | uncertain significance |
| rs757376807 | 20:47,706,257 | A/C | — | uncertain significance |
| rs2515682336 | 20:47,707,512 | T/C | — | uncertain significance |
| rs139664090 | 20:47,707,539 | A/G | — | uncertain significance |
| rs1325016660 | 20:47,711,484 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.