RB1

Retinoblastoma-associated protein ;
p105-Rb ;
pRb ;
Rb ;
pp110 ;

disease:Defects in RB1 are a cause of bladder cancer [MIM:109800]. ,disease:Defects in RB1 are a cause of osteogenic sarcoma [MIM:259500]. ,disease:Defects in RB1 are the cause of childhood cancer retinoblastoma (RB) [MIM:180200]. RB is a congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically , about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ("cat eye") is investigated. ,function:Key regulator of entry into cell division that acts as a tumor suppressor. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated , active form of RB1 interacts with E2F1 and represses its transcription activity , leading to cell cycle arrest. 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 , SUV420H1 and SUV420H2 , leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. In case of viral infections , interactions with SV40 large T antigen , HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity. ,online information:RB1 mutation db ,online information:Retinoblastoma protein entry ,PTM:Phosphorylated in G1 , thereby releasing E2F1 which is then able to activate cell growth. Dephosphorylated at the late M phase. SV40 large T antigen , HPV E7 and adenovirus E1A bind to the underphosphorylated , active form of pRb. ,similarity:Belongs to the retinoblastoma protein (RB) family. ,subunit:Interacts with ATAD5 (By similarity) . The hypophosphorylated form interacts with and sequesters the E2F1 transcription factor. The unphosphorylated form interacts with ARID3B , KDM5A , SUV39H1 , MJD2A/JHDM3A and THOC1. Interacts with the N-terminal domain of TAF1. Interacts with AATF , DNMT1 , LIN9 , LMNA , SUV420H1 , SUV420H2 , PELP1 and TMPO-alpha. May interact with NDC80. Interacts with EID1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1. Interacts with adenovirus E1A protein , HPV E7 protein and SV40 large T antigen. ,tissue specificity:Expressed in the retina. ,

cell cycle checkpoint , G1/S transition of mitotic cell cycle , regulation of transcription of G1/S-phase of mitotic cell cycle ,negative regulation of transcription from RNA polymerase II promoter , mitotic cell cycle , M phase , regulation of cell growth , immune system development , regulation of myeloid leukocyte differentiation , positive regulation of myeloid leukocyte differentiation , chromatin organization , chromatin remodeling , transcription , regulation of transcription , DNA-dependent , regulation of transcription from RNA polymerase II promoter , negative regulation of protein kinase activity ,cell cycle , cell cycle arrest , regulation of S phase of mitotic cell cycle , intracellular signaling cascade , regulation of mitotic cell cycle , negative regulation of cell proliferation , regulation of cell size , negative regulation of biosynthetic process , positive regulation of biosynthetic process , positive regulation of macromolecule biosynthetic process ,negative regulation of macromolecule biosynthetic process , regulation of cell cycle process , positive regulation of macromolecule metabolic process , negative regulation of macromolecule metabolic process , positive regulation of gene expression , negative regulation of gene expression , negative regulation of cell cycle process , negative regulation of transcription , chromatin modification , regulation of lipid metabolic process , regulation of phosphate metabolic process ,cell cycle process , cell cycle phase , hemopoiesis , myeloid cell differentiation , erythrocyte differentiation , negative regulation of cell growth , steroid hormone receptor signaling pathway , androgen receptor signaling pathway ,intracellular receptor-mediated signaling pathway , negative regulation of cellular biosynthetic process , positive regulation of cellular biosynthetic process , regulation of cellular component size , regulation of S phase , negative regulation of kinase activity , erythrocyte homeostasis , regulation of growth , regulation of cell proliferation , regulation of phosphorylation , homeostatic process , muscle cell differentiation , negative regulation of catalytic activity , enucleate erythrocyte differentiation , regulation of kinase activity , regulation of lipid kinase activity , negative regulation of molecular function , myoblast differentiation , regulation of transcription , positive regulation of cell differentiation ,regulation of myeloid cell differentiation , positive regulation of myeloid cell differentiation , regulation of macrophage differentiation , positive regulation of macrophage differentiation , negative regulation of S phase of mitotic cell cycle ,negative regulation of cell cycle , negative regulation of cell size , regulation of protein kinase activity , negative regulation of transcription , DNA-dependent , positive regulation of transcription , DNA-dependent , negative regulation of growth , negative regulation of mitotic cell cycle , negative regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of nucleobase , nucleoside , nucleotide and nucleic acid metabolic process , positive regulation of transcription , positive regulation of transcription from RNA polymerase II promoter ,hemopoietic or lymphoid organ development , homeostasis of number of cells , positive regulation of developmental process , striated muscle cell differentiation , negative regulation of nitrogen compound metabolic process , positive regulation of nitrogen compound metabolic process , regulation of phosphorus metabolic process , regulation of RNA metabolic process , negative regulation of RNA metabolic process , positive regulation of RNA metabolic process ,chromosome organization , cell division , G1 phase , interphase , interphase of mitotic cell cycle , regulation of transferase activity , negative regulation of transferase activity , regulation of cell cycle ,

Nucleus . During keratinocyte differentiation , acetylation by KAT2B/PCAF is required for nuclear localization. .