AlphaFold predicted structure
RB1 · P06400
Mean pLDDT
76.1/ 100
Confident
928 residues
Confidence breakdown
- Very high(≥ 90)51%
- Confident(70–90)14%
- Low(50–70)14%
- Very low(< 50)22%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RB1
Chr 13q14.2RB transcriptional corepressor 1
- Aliases:
- RB, PPP1R130
- MANE:
- ENST00000267163.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult solid tumours for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownChildhood solid tumours cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial rhabdomyosarcoma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRetinoblastoma
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSarcoma of possible germline origin
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSarcoma cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Disease associations (Open Targets)
retinoblastoma
0.85hereditary retinoblastoma
0.85urinary bladder cancer
0.75urinary bladder carcinoma
0.74small cell lung carcinoma
0.72non-hereditary retinoblastoma
0.68hepatocellular carcinoma
0.62lung adenocarcinoma
0.61trilateral retinoblastoma
0.59osteosarcoma
0.58
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinoblastoma-associated protein
Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:10499802). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes (PubMed:10499802). Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription (PubMed:10499802). Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase (PubMed:10499802). RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C (PubMed:15084261). Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity)
Diseases associated with RB1
Curated MONDO disease pages that list RB1 among their top associated genes.