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]

Tumor type associations:

  • Bladder
  • Breast
  • Cervical
  • Colorectal
  • Endometrial
  • Esophageal
  • Gastric
  • Kidney
  • Liver
  • Melanoma
  • Ovarian
  • Prostate
  • Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding
  • Molecular function
  • DNA binding
  • Enables transcription corepressor activity
  • Enables protein binding
  • Is active in chromatin
  • Cellular component
  • Located in nucleus
  • Located in nucleoplasm
  • Part of transcription regulator complex
  • G1/S transition of mitotic cell cycle
  • Involved in negative regulation of transcription by RNA polymerase II
  • Regulation of cell growth
  • Involved in tissue homeostasis
  • Involved in chondrocyte differentiation
  • Bladder cancer, somatic
  • Osteosarcoma, somatic
  • Retinoblastoma
  • Retinoblastoma, trilateral
  • Small cell cancer of the lung, somatic

RB1 localizations – Subcellular Localization Database

EmwStructure of the RB1 protein. Based on PyMOL rendering of PDB 1ad6.

Gene Location