Basic Information

Symbol
RB1
RNA class
mRNA
Alias
RB Transcriptional Corepressor 1 PPP1R130 RB Protein Phosphatase 1, Regulatory Subunit 130 Prepro-Retinoblastoma-Associated Protein Retinoblastoma-Associated Protein Retinoblastoma 1 P110-RB1 P105-Rb Pp110 OSRC PRb Retinoblastoma Suspectibility Protein Osteosarcoma Rb
Location (GRCh38)
13:48303735-48599436
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000321.3
Sequence length
4768.0 nt
GC content
0.3708

Transcripts

ID Sequence Length GC content
NM_000321.3 NCBI
AGUUGCCGGGCGGGGGAGGGCGCGUCCGGUUUUUCUCAGGGGACGUUGA… 4768 nt 0.3708
NM_001407165.1 NCBI
AGUUGCCGGGCGGGGGAGGGCGCGUCCGGUUUUUCUCAGGGGACGUUGA… 4787 nt 0.3708
NM_001407166.1 NCBI
AGUUGCCGGGCGGGGGAGGGCGCGUCCGGUUUUUCUCAGGGGACGUUGA… 6581 nt 0.3679
NM_001407167.1 NCBI
AGUUGCCGGGCGGGGGAGGGCGCGUCCGGUUUUUCUCAGGGGACGUUGA… 2322 nt 0.4048
NM_001407168.1 NCBI
GAAGAAUGUGAGCUGCAUGGGAAAAGACAGGAGGAUUUACAAAGAGUGG… 2159 nt 0.3284
Summary

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] CIViC Summary for RB1 Gene

Forensic Context

No relevant information is available at the moment.