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Symbol RB1 contributors: mct/shn - updated : 01-03-2017
HGNC name retinoblastoma 1
HGNC id 9884
corresponding disease(s) RB , DEL13Q14
related resource Retinoblastoma, RB1 Mutation Database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral       loss of function
in malignant fibrous histiocytoma
tumoral     --low  
promoting breast-tumor aggressiveness and rapid cell tumor proliferation
tumoral   deletion    
in pituitary tumor (somatotrophinoma)
tumoral   LOH    
in esophageal squamous cell carcinoma (concomitant loss of CDKN2A or not) and in hepatocellular carcinoma
tumoral       loss of function
in small cell lung carcinoma, in eye tumor
tumoral       loss of function
in developing retina induces genomic instability, but senescence can block transformation at the stage of retinoma
constitutional       loss of function
leads to the rapid degeneration of most retinal cells except horizontal cells, which persist as giant cells with aberrant centrosome content, DNA damage, and polyploidy/aneuploidy
Susceptibility to ovarian carcinoma
Variant & Polymorphism other associations of rs2854344 and rs4151620 with ovarian cancer risk
Candidate gene
Therapy target
phosphorylated RB1 can be a molecular target for cancer therapy aimed at inducing apoptosis of ABL-dependent tumor cells, such as BCR/ABL-positive CML
  • expression of a viral oncogene, the simian virus 40 T antigen, in the retina of transgenic mice produces heritable ocular tumours with histological, ultrastructural and immunohistochemical features identical to those of human retinoblastoma
  • mice with an insertional mutation in exon 20 of the Rb-1 locus die before the 16th embryonic day with multiple defects
  • mice with Rb1 conditionnaly deleted in the central nervous system show an increase in neuronal number due to aberrant S phase entry without apoptosis
  • disruption of the retinoblastoma gene in mice leads to embryonic lethality in midgestation accompanied by defective erythropoiesis, inappropriate cell cycle activity and apoptosis in the central nervous system, peripheral nervous system and ocular lens
  • adult pRb(-/-) mice exhibit profound hearing loss due to progressive degeneration of the organ of Corti
  • mouse embryonic fibroblasts lacking the retinoblastoma genes RB1 display genomic instability
  • defective mitotic chromosome structure caused by mutant pRB accelerates loss of heterozygosity lead to earlier tumor formation in Trp53(+/-) mice