RB1 RB transcriptional corepressor 1

Gene ID: 5925, updated on 29-Mar-2023
Gene type: protein coding
Also known as: RB; pRb; OSRC; pp110; p105-Rb; PPP1R130; p110-RB1

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Bone osteosarcoma MedGen: C0585442OMIM: 259500GeneReviews: Not available	See labs
Malignant tumor of urinary bladder MedGen: C0005684OMIM: 109800GeneReviews: Not available	See labs
Retinoblastoma MedGen: C0035335OMIM: 180200GeneReviews: Retinoblastoma	See labs
Small cell lung carcinoma MedGen: C0149925OMIM: 182280GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-03-09) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 13q14.2

Sequence:: Chromosome: 13; NC_000013.11 (48303751..48481890)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for RB1 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RB1 database
rb1-lsdb
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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