Basic Information
MANE select
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| GUGGGUAGCGCGCCUGGGAGGGAGAAAGAAGUCGGGGGCCGUGGCGCGC… | 5759 nt | 0.3994 | |
| GUGGGUAGCGCGCCUGGGAGGGAGAAAGAAGUCGGGGGCCGUGGCGCGC… | 5824 nt | 0.3989 | |
| GUGGGUAGCGCGCCUGGGAGGGAGAAAGAAGUCGGGGGCCGUGGCGCGC… | 5686 nt | 0.4001 | |
| GUGGGUAGCGCGCCUGGGAGGGAGAAAGAAGUCGGGGGCCGUGGCGCGC… | 3233 nt | 0.4142 |
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]
Forensic Context
A study in mice demonstrated that the RBL1 transcript, a tumor suppressor, increased in relative abundance postmortem [Pozhitkov et al. DOI:10.1098/rsob.160267]. A study in humans demonstrated that the RBL1 was identified in 49 out of 50 saliva samples with 65.31% average sequence coverage using a targeted high-resolution mass spectrometry assay [Brown et al. DOI:10.1021/acs.jproteome.5c00711]. The method validated the detection of this biomarker in forensic casework-type samples, including its identification in sensitivity samples up to a 500-fold dilution and in most aged and substrate-challenged samples.