| Tbio | Retinoblastoma-like protein 1 |
Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor suppressor.
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]
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]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| glioblastoma | 5792 | 7.9e-09 |
| Astrocytoma, Pilocytic | 3081 | 1.9e-07 |
| adrenocortical carcinoma | 1428 | 2.9e-05 |
| adult high grade glioma | 3801 | 2.2e-04 |
| primitive neuroectodermal tumor | 3035 | 2.5e-04 |
| medulloblastoma, large-cell | 6241 | 2.6e-04 |
| tuberculosis | 2010 | 1.3e-03 |
| osteosarcoma | 7950 | 1.9e-03 |
| gastric cancer | 459 | 2.4e-03 |
| group 3 medulloblastoma | 4104 | 3.9e-03 |
| atypical teratoid / rhabdoid tumor | 5112 | 5.1e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Retinoblastoma | 19 | 7.39 | 3.7 |
| Disease | log2 FC | p |
|---|---|---|
| adrenocortical carcinoma | 1.218 | 2.9e-05 |
| adult high grade glioma | 1.500 | 2.2e-04 |
| Astrocytoma, Pilocytic | 1.500 | 1.9e-07 |
| atypical teratoid / rhabdoid tumor | 1.100 | 5.1e-03 |
| gastric cancer | 1.100 | 2.4e-03 |
| glioblastoma | 1.800 | 7.9e-09 |
| group 3 medulloblastoma | 1.100 | 3.9e-03 |
| medulloblastoma, large-cell | 1.200 | 2.6e-04 |
| osteosarcoma | -2.086 | 1.9e-03 |
| primitive neuroectodermal tumor | 1.800 | 2.5e-04 |
| tuberculosis | -1.100 | 1.3e-03 |
MFEDKPHAEGAAVVAAAGEALQALCQELNLDEGSAAEALDDFTAIRGNYSLEGEVTHWLACSLYVACRKS 1 - 70 IIPTVGKGIMEGNCVSLTRILRSAKLSLIQFFSKMKKWMDMSNLPQEFRERIERLERNFEVSTVIFKKYE 71 - 140 PIFLDIFQNPYEEPPKLPRSRKQRRIPCSVKDLFNFCWTLFVYTKGNFRMIGDDLVNSYHLLLCCLDLIF 141 - 210 ANAIMCPNRQDLLNPSFKGLPSDFHTADFTASEEPPCIIAVLCELHDGLLVEAKGIKEHYFKPYISKLFD 211 - 280 RKILKGECLLDLSSFTDNSKAVNKEYEEYVLTVGDFDERIFLGADAEEEIGTPRKFTRDTPLGKLTAQAN 281 - 350 VEYNLQQHFEKKRSFAPSTPLTGRRYLREKEAVITPVASATQSVSRLQSIVAGLKNAPSDQLINIFESCV 351 - 420 RNPVENIMKILKGIGETFCQHYTQSTDEQPGSHIDFAVNRLKLAEILYYKILETVMVQETRRLHGMDMSV 421 - 490 LLEQDIFHRSLMACCLEIVLFAYSSPRTFPWIIEVLNLQPFYFYKVIEVVIRSEEGLSRDMVKHLNSIEE 491 - 560 QILESLAWSHDSALWEALQVSANKVPTCEEVIFPNNFETGNGGNVQGHLPLMPMSPLMHPRVKEVRTDSG 561 - 630 SLRRDMQPLSPISVHERYSSPTAGSAKRRLFGEDPPKEMLMDKIITEGTKLKIAPSSSITAENVSILPGQ 631 - 700 TLLTMATAPVTGTTGHKVTIPLHGVANDAGEITLIPLSMNTNQESKVKSPVSLTAHSLIGASPKQTNLTK 701 - 770 AQEVHSTGINRPKRTGSLALFYRKVYHLASVRLRDLCLKLDVSNELRRKIWTCFEFTLVHCPDLMKDRHL 771 - 840 DQLLLCAFYIMAKVTKEERTFQEIMKSYRNQPQANSHVYRSVLLKSIPREVVAYNKNINDDFEMIDCDLE 841 - 910 DATKTPDCSSGPVKEERGDLIKFYNTIYVGRVKSFALKYDLANQDHMMDAPPLSPFPHIKQQPGSPRRIS 911 - 980 QQHSIYISPHKNGSGLTPRSALLYKFNGSPSKSLKDINNMIRQGEQRTKKRVIAIDSDAESPAKRVCQEN 981 - 1050 DDVLLKRLQDVVSERANH 1051 - 1068 //
