RB1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | RB1 |
| Official Name | RB transcriptional corepressor 1 [Source:HGNC Symbol;Acc:HGNC:9884] |
| Ensembl ID | ENSG00000139687 |
| Bio databases IDs | |
| Aliases | RB transcriptional corepressor 1, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130 |
| Synonyms | OSRC, p105, p105-Rb, p110 RB, p110-RB1, pp105, pp110, PPP1R130, pRb, RB, RB-ASSOCIATED, RB transcriptional corepressor 1, Retinoblastome tumor-suppression protein rb |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- A-box
- C pocket domain
- transcription regulator
- A-B domain
- Cyclin box fold superfamily
- A/B region
- C-box domain
- transcription co-repressor
- caspase cleavage site
- phosphoprotein binding
- transcription factor binding
- cdk phosphorylation site
- Domain of unknown function (DUF3452)
- LXCXE binding site
- inserted domain
- domain present in cyclins, TFIIB and Retinoblastoma
- identical protein binding
- pocket domain
- Trip230 binding domain
- SV40 large T-antigen binding domain
- Rb C-terminal domain
- Retinoblastoma-associated protein A domain
- a/b binding pocket
- A domain
- ubiquitin protein ligase binding
- enzyme binding
- central domain
- linker domain
- protein domain specific binding
- protein binding
- M89 structural motif
- cyclin dependent kinase site
- phosphorylation site
- kinase binding
- E2F protein-binding domain
- Cdk4 docking motif
- spacer domain
- Retinoblastoma-associated protein B domain
- Box B domain
- cyclin-binding domain
- B subdomain from retinoblastoma
Pathways
Biological processes and signaling networks where the RB1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Adipogenesis pathway
- Antiproliferative Role of TOB in T Cell Signaling
- Aryl Hydrocarbon Receptor Signaling
- Bladder Cancer Signaling
- Cell Cycle Regulation by BTG Family Proteins
- Cyclins and Cell Cycle Regulation
- DNA Methylation and Transcriptional Repression Signaling
- Estrogen-mediated S-phase Entry
- Glioblastoma Multiforme Signaling
- Glioma Signaling
- Hereditary Breast Cancer Signaling
- Melanoma Signaling
- Non-Small Cell Lung Cancer Signaling
- p53 Signaling
- Pancreatic Adenocarcinoma Signaling
- Prostate Cancer Signaling
- Role of BRCA1 in DNA Damage Response
- Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
- Role of p14/p19ARF in Tumor Suppression
- Role of Tissue Factor in Cancer
- Serotonin Receptor Signaling
- Small Cell Lung Cancer Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastatic breast cancer
- breast cancer
- breast adenocarcinoma
- alcoholism
- major depression
- small cell lung cancer
- small cell lung carcinoma
- non-small cell lung cancer
- lymphomagenesis
role in cell
- maturation
- cell death
- formation
- expression in
- survival
- induction in
- growth
- differentiation
- apoptosis
- stabilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- spindle apparatus
- Cytoplasm
- nucleolar region
- Mitochondria
- cytosol
- connecting cilia
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear bodies
- nuclear rim
- interchromatin granule clusters
- nuclear matrix
- nuclear lamina
- photoreceptor inner segments
- PML nuclear bodies
- rod outer segments
- rod inner segments
- cone inner segments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myoblast differentiation
- positive regulation of mitotic metaphase/anaphase transition
- transcription from RNA polymerase II promoter
- epithelial cell proliferation
- positive regulation of transcription regulatory region DNA binding
- negative regulation of transcription, DNA-dependent
- skeletal muscle cell differentiation
- negative regulation of cell growth
- positive regulation of macrophage differentiation
- digestive tract development
- regulation of lipid kinase activity
- regulation of cell cycle
- glial cell apoptotic process
- neuron apoptotic process
- protein localization to chromosome, centromeric region
- aortic valve morphogenesis
- negative regulation of inflammatory response
- enucleate erythrocyte differentiation
- smoothened signaling pathway
- Ras protein signal transduction
- negative regulation of sequence-specific DNA binding transcription factor activity
- regulation of mitotic cell cycle
- negative regulation of gene expression
- heterochromatin assembly
- negative regulation of epithelial cell proliferation
- regulation of centromere complex assembly
- negative regulation of cell cycle
- chondrocyte differentiation
- neuron maturation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of protein kinase activity
- cell division
- cellular response to insulin stimulus
- negative regulation of transcription from RNA polymerase II promoter
- chromatin remodeling
- striated muscle cell differentiation
- G1/S transition of mitotic cell cycle
- sister chromatid biorientation
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of glial cell proliferation
- neuron projection development
- maintenance of mitotic sister chromatid cohesion
- spermatogenesis
- regulation of transcription, DNA-dependent
- cell morphogenesis involved in neuron differentiation
- negative regulation of smoothened signaling pathway
- hepatocyte apoptotic process
- tissue homeostasis
- chromosome organization
- cell differentiation
- cellular response to xenobiotic stimulus
- glial cell proliferation
- negative regulation of protein serine/threonine kinase activity
- negative regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- SWI/SNF complex
- Rb-E2F complex
- PML body
- spindle
- cytosol
- positive transcription elongation factor complex b
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- ubiquitin protein ligase binding
- transcription corepressor activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- phosphoprotein binding
- kinase binding
- binding, bridging