Aliases for RBL1 Gene
External Ids for RBL1 Gene
Previous GeneCards Identifiers for RBL1 Gene
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]
GeneCards Summary for RBL1 Gene
RBL1 (RB Transcriptional Corepressor Like 1) is a Protein Coding gene. Diseases associated with RBL1 include Retinoblastoma and Bilateral Retinoblastoma. Among its related pathways are Cell cycle Cell cycle (generic schema) and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is RBL2.
UniProtKB/Swiss-Prot Summary for RBL1 Gene
Key regulator of entry into cell division (PubMed:17671431). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (By similarity). Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression (By similarity). Controls histone H4 'Lys-20' trimethylation (By similarity). Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters (By similarity). Potent inhibitor of E2F-mediated trans-activation (PubMed:8319904). May act as a tumor suppressor (PubMed:8319904).