Human Gene RB1 (uc010act.1) Description and Page Index
Description: Homo sapiens mRNA for Retinoblastoma-associated protein variant protein. RefSeq Summary (NM_000321): The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC040540.1, SRR1660809.155247.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg18 chr13:47,832,154-47,849,171 Size: 17,018 Total Exon Count: 6 Strand: + Coding Region Position: hg18 chr13:47,837,067-47,849,171 Size: 12,105 Coding Exon Count: 5
breast cancer Berns EM et al. 1995, Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer without effect on survival., International journal of cancer. Journal international du cancer. 1995 Apr;64(2):140-5.
osteosarcoma Issing WJ et al. 1993, An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma., European archives of oto-rhino-laryngology. 1993 ;250(5):277-80.
retinoblastoma Houdayer, C. et al. 2004, Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF., Human mutation. 2004 Feb;23(2):193-202.
This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach. Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.