RBL1
RB transcriptional corepressor like 1
Summary
The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2515315883 | 20:35,627,208 | A/G | — | uncertain significance |
| rs551261984 | 20:35,632,013 | A/T | — | — |
| rs200331599 | 20:35,634,297 | C/T | — | — |
| rs142752193 | 20:35,635,940 | T/A | — | benign |
| rs6030712 | 20:35,637,398 | G/C | — | — |
| rs6130311 | 20:35,637,451 | G/A | intron variant | — |
| rs141687619 | 20:35,643,873 | G/A | intron variant | — |
| rs6017001 | 20:35,643,946 | A/G | intron variant | — |
| rs774526314 | 20:35,646,733 | C/A | — | likely benign |
| rs2515364053 | 20:35,649,100 | T/A | — | uncertain significance |
| rs138577744 | 20:35,649,133 | C/T | — | uncertain significance |
| rs77376862 | 20:35,651,139 | C/T | — | uncertain significance |
| rs369755282 | 20:35,651,151 | A/G | — | uncertain significance |
| rs539689071 | 20:35,654,270 | C/T | — | — |
| rs201655081 | 20:35,661,238 | A/C | — | uncertain significance |
| rs577554906 | 20:35,661,258 | T/G | — | uncertain significance |
| rs2064536839 | 20:35,661,268 | C/T | — | uncertain significance |
| rs151249684 | 20:35,663,639 | C/T | — | likely benign |
| rs139987219 | 20:35,663,657 | T/C | — | uncertain significance |
| rs561007120 | 20:35,663,671 | C/T | — | uncertain significance |
| rs371088211 | 20:35,663,693 | C/T | — | uncertain significance |
| rs148827202 | 20:35,663,782 | C/T | — | uncertain significance |
| rs923766823 | 20:35,668,561 | C/T | — | uncertain significance |
| rs375434002 | 20:35,668,619 | T/C | — | uncertain significance |
| rs997595481 | 20:35,668,667 | C/T | — | uncertain significance |
| rs369405119 | 20:35,672,503 | G/A | — | uncertain significance |
| rs1402527660 | 20:35,672,521 | C/A | — | uncertain significance |
| rs146906781 | 20:35,672,607 | A/G | — | uncertain significance |
| rs757678961 | 20:35,675,474 | T/G | — | uncertain significance |
| rs140507297 | 20:35,675,502 | G/C | — | benign |
| rs149999468 | 20:35,675,512 | G/A | missense variant | — |
| rs774337469 | 20:35,675,553 | G/A | — | uncertain significance |
| rs527246162 | 20:35,675,566 | G/A | — | uncertain significance |
| rs760764631 | 20:35,675,574 | A/T | — | uncertain significance |
| rs2515442695 | 20:35,684,627 | T/C | — | uncertain significance |
| rs756868872 | 20:35,684,650 | C/T | — | uncertain significance |
| rs146015204 | 20:35,690,510 | T/C | — | uncertain significance |
| rs1329550463 | 20:35,690,594 | C/T | — | uncertain significance |
| rs139180319 | 20:35,693,842 | C/G | — | uncertain significance |
| rs778398276 | 20:35,693,852 | C/T | — | uncertain significance |
| rs757166395 | 20:35,695,246 | C/T | — | uncertain significance |
| rs2515466680 | 20:35,695,287 | C/A | — | uncertain significance |
| rs368117514 | 20:35,695,515 | C/T | — | uncertain significance |
| rs543158530 | 20:35,696,428 | T/C | — | uncertain significance |
| rs372832960 | 20:35,696,444 | T/C | — | uncertain significance |
| rs762473915 | 20:35,696,458 | G/A | — | uncertain significance |
| rs140360472 | 20:35,696,471 | T/G | — | uncertain significance |
| rs776567571 | 20:35,717,450 | C/A | — | uncertain significance |
| rs373363708 | 20:35,717,473 | C/A | — | uncertain significance |
| rs749230435 | 20:35,724,186 | T/C | — | uncertain significance |
| rs770992115 | 20:35,724,187 | A/G | — | uncertain significance |
| rs772232317 | 20:35,724,204 | G/A | — | uncertain significance |
| rs2515519068 | 20:35,724,219 | G/A | — | uncertain significance |
| rs1260305152 | 20:35,724,311 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.