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    RB1 RB transcriptional corepressor 1 [ Homo sapiens (human) ]

    Gene ID: 5925, updated on 14-Oct-2018

    Summary

    Official Symbol
    RB1provided by HGNC
    Official Full Name
    RB transcriptional corepressor 1provided by HGNC
    Primary source
    HGNC:HGNC:9884
    See related
    Ensembl:ENSG00000139687 MIM:614041; Vega:OTTHUMG00000016900
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RB; pRb; OSRC; pp110; p105-Rb; PPP1R130
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 18.0), thyroid (RPKM 16.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See RB1 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (48303747..48481890)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48877883..49056026)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene integral membrane protein 2B Neighboring gene RB1 divergent transcript Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 1 Neighboring gene PEST containing nuclear protein pseudogene 5 Neighboring gene uncharacterized LOC112268118 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene RCC1 and BTB domain containing protein 2 Neighboring gene uncharacterized LOC105370201

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RB1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Bladder cancer, somatic
    MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
    Compare labs
    Osteosarcoma
    MedGen: C0029463 OMIM: 259500 GeneReviews: Not available
    Compare labs
    Retinoblastoma
    MedGen: C0035335 OMIM: 180200 GeneReviews: Retinoblastoma
    Compare labs
    Small cell lung cancer
    MedGen: C0149925 OMIM: 182280 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed
    env The V3 loop of HIV-1 gp120 induces G1 arrest in IL-2-dependent cell cycle progression by reducing cyclin E expression and phosphorylation of retinoblastoma protein (pRb) PubMed
    Nef nef HIV-1 Nef is implicated in the upregulation of Cyclin D1, and subsequently phospho-pRb (Ser780), in infected podocytes and may be involved in the pathogenesis of HIV-associated nephropathy PubMed
    Tat tat Expression of HIV-1 Tat upregulates the abundance of retinoblastoma 1 (RB1) in the nucleoli of Jurkat T-cells PubMed
    tat Tat-expressing EBV-positive B cells show downregulation of Bcl-2, and in serum starvation conditions display the Retinoblastoma (Rb) hyper-phosphorylated form, progress throughout the cell cycle, and retain the ability to grow in small clumps PubMed
    tat HIV-1 Tat induces a G1 arrest in cells of glial origin, leading to a downregulation of cyclin E-Cdk2 kinase activity and phosphorylation of Rb PubMed
    tat Co-expression of the human retinoblastoma gene in HeLa cells with HIV-1 Tat inhibits the Tat mediated transactivation of the HIV-1 LTR promoter PubMed
    tat The under-phosphorylated form of Rb that is prevalent in HIV-1 Tat treated glial cells activates HIV-1 transcription by a mechanism involving the NFkappaB enhancer in the viral LTR promoter, likely through promoting the interaction of Rb with E2F-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
    • Aryl Hydrocarbon Receptor, organism-specific biosystem (from WikiPathways)
      Aryl Hydrocarbon Receptor, organism-specific biosystemThe Aryl Hydrocarbon receptor (AhR) is ligand activated transcription factor that regulates wide spectrum of gene expression. The main mediator of AhR is 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or...
    • Bladder Cancer, organism-specific biosystem (from WikiPathways)
      Bladder Cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, organism-specific biosystem (from KEGG)
      Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, conserved biosystem (from KEGG)
      Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Breast cancer, organism-specific biosystem (from KEGG)
      Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Breast cancer, conserved biosystem (from KEGG)
      Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
    • Cell Cycle, organism-specific biosystem (from WikiPathways)
      Cell Cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
      Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle - G1/S transition, organism-specific biosystem (from KEGG)
      Cell cycle - G1/S transition, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • Cell cycle - G1/S transition, conserved biosystem (from KEGG)
      Cell cycle - G1/S transition, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Cellular Senescence, organism-specific biosystem (from REACTOME)
      Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Condensation of Prophase Chromosomes, organism-specific biosystem (from REACTOME)
      Condensation of Prophase Chromosomes, organism-specific biosystemIn mitotic prophase, the action of the condensin II complex enables initial chromosome condensation.The condensin II complex subunit NCAPD3 binds monomethylated histone H4 (H4K20me1), thereby associa...
    • Cyclin A:Cdk2-associated events at S phase entry, organism-specific biosystem (from REACTOME)
      Cyclin A:Cdk2-associated events at S phase entry, organism-specific biosystemCyclin A:Cdk2 plays a key role in S phase entry by phosphorylation of proteins including Cdh1, Rb, p21 and p27. During G1 phase of the cell cycle, cyclin A is synthesized and associates with Cdk2. Af...
    • Cyclin D associated events in G1, organism-specific biosystem (from REACTOME)
      Cyclin D associated events in G1, organism-specific biosystemThree D-type cyclins are essential for progression from G1 to S-phase. These D cyclins bind to and activate both CDK4 and CDK6. The formation of all possible complexes between the D-type cyclins and...
    • Cyclin E associated events during G1/S transition, organism-specific biosystem (from REACTOME)
      Cyclin E associated events during G1/S transition, organism-specific biosystemThe transition from the G1 to S phase is controlled by the Cyclin E:Cdk2 complexes. As the Cyclin E:Cdk2 complexes are formed, the Cdk2 is phosphorylated by the Wee1 and Myt1 kinases. This phosphoryl...
    • DNA Damage Response, organism-specific biosystem (from WikiPathways)
      DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
      DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
    • DNA Replication, organism-specific biosystem (from REACTOME)
      DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • E2F mediated regulation of DNA replication, organism-specific biosystem (from REACTOME)
      E2F mediated regulation of DNA replication, organism-specific biosystemProgression through G1 and G1 to S-phase transition that initiates DNA synthesis involve many complexes that are regulated by RB1:E2F pathway. RB1:E2F pathway plays a key role in gene expression regu...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • Endocrine resistance, organism-specific biosystem (from KEGG)
      Endocrine resistance, organism-specific biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • Endocrine resistance, conserved biosystem (from KEGG)
      Endocrine resistance, conserved biosystemEndocrine therapy is a key treatment strategy to control or eradicate hormone-responsive breast cancer. The most commonly used endocrine therapy agents are selective estrogen receptor modulators (SER...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
      Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • FOXM1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXM1 transcription factor network, organism-specific biosystem
      FOXM1 transcription factor network
    • Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystem (from WikiPathways)
      Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
    • Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystem (from REACTOME)
      Formation of Senescence-Associated Heterochromatin Foci (SAHF), organism-specific biosystemThe process of DNA damage/telomere stress induced senescence culminates in the formation of senescence associated heterochromatin foci (SAHF). These foci represent facultative heterochromatin that is...
    • G1 Phase, organism-specific biosystem (from REACTOME)
      G1 Phase, organism-specific biosystemEarly cell cycle progression in G1 is under the control of the D-type cyclins together with Cdk4 and Cdk6. An important target for these CDKs is the Retinoblastoma (Rb) protein, which when phosphoryl...
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • G1/S Transition, organism-specific biosystem (from REACTOME)
      G1/S Transition, organism-specific biosystemCyclin E - Cdk2 complexes control the transition from G1 into S-phase. In this case, the binding of p21Cip1/Waf1 or p27kip1 is inhibitory. Important substrates for Cyclin E - Cdk2 complexes include p...
    • Glioma, organism-specific biosystem (from KEGG)
      Glioma, organism-specific biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
    • Glioma, conserved biosystem (from KEGG)
      Glioma, conserved biosystemGliomas are the most common of the primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (a...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Hepatitis B, organism-specific biosystem (from KEGG)
      Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
    • Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystem (from WikiPathways)
      Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein hormone secreted from the anterior pituitary lobe, which plays an important physiological role in regulation of the hypothalamus-pituitary-th...
    • ID signaling pathway, organism-specific biosystem (from WikiPathways)
      ID signaling pathway, organism-specific biosystemThe Inhibitor of DNA binding (ID) proteins belong to the class V HLH family of transcription factors. Four ID proteins (ID 1-4)are known in humans. Unlike the basic HLH (bHLH) transcription factors, ...
    • Inhibition of replication initiation of damaged DNA by RB1/E2F1, organism-specific biosystem (from REACTOME)
      Inhibition of replication initiation of damaged DNA by RB1/E2F1, organism-specific biosystem
      Inhibition of replication initiation of damaged DNA by RB1/E2F1
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer Pathway, organism-specific biosystem
      Integrated Cancer Pathway
    • M Phase, organism-specific biosystem (from REACTOME)
      M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
    • Melanoma, organism-specific biosystem (from KEGG)
      Melanoma, organism-specific biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
    • Melanoma, conserved biosystem (from KEGG)
      Melanoma, conserved biosystemMelanoma is a form of skin cancer that has a poor prognosis and which is on the rise in Western populations. Melanoma arises from the malignant transformation of pigment-producing cells, melanocytes...
    • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
      Mitotic G1-G1/S phases, organism-specific biosystem
      Mitotic G1-G1/S phases
    • Mitotic Prophase, organism-specific biosystem (from REACTOME)
      Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
    • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
      Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Non-small cell lung cancer, conserved biosystem (from KEGG)
      Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
    • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
      Notch-mediated HES/HEY network, organism-specific biosystem
      Notch-mediated HES/HEY network
    • Orc1 removal from chromatin, organism-specific biosystem (from REACTOME)
      Orc1 removal from chromatin, organism-specific biosystem
      Orc1 removal from chromatin
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes, organism-specific biosystem (from REACTOME)
      Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes, organism-specific biosystemThe G1/S transition is facilitated by Cyclin E:Cdk2-mediated phoshorylation of proteins including Rb and Cyclin Kinase Inhibitors (CKIs).
    • Photodynamic therapy-induced AP-1 survival signaling., organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced AP-1 survival signaling., organism-specific biosystemPhotodynamic therapy may induce an acute stress response mediated by mitogen-activated protein kinase kinase kinase 5 (MAP3K5), its downstream MAPKs that target c-Jun N-terminal kinase (JNK, MAPK8) a...
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Regulation of DNA replication, organism-specific biosystem (from REACTOME)
      Regulation of DNA replication, organism-specific biosystemDNA replication is regulated at various levels via ORC proteins. This pathway includes annotation of individual events that lead to the regulation of replication.
    • Regulation of retinoblastoma protein, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of retinoblastoma protein, organism-specific biosystem
      Regulation of retinoblastoma protein
    • Removal of licensing factors from origins, organism-specific biosystem (from REACTOME)
      Removal of licensing factors from origins, organism-specific biosystemLicensing factors are removed from the origin by various means like biochemical modification (phosphorylation) or by physical association with other proteins. This pathway includes the annotations of...
    • Retinoblastoma (RB) in Cancer, organism-specific biosystem (from WikiPathways)
      Retinoblastoma (RB) in Cancer, organism-specific biosystemDescribes the role of retinoblastoma (RB) gene in cancer.
    • S Phase, organism-specific biosystem (from REACTOME)
      S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
    • Switching of origins to a post-replicative state, organism-specific biosystem (from REACTOME)
      Switching of origins to a post-replicative state, organism-specific biosystem
      Switching of origins to a post-replicative state
    • Synthesis of DNA, organism-specific biosystem (from REACTOME)
      Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
      miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II activating transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II regulatory region DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    androgen receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    disordered domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    importin-alpha family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proximal promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
     
    Ras protein signal transduction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    androgen receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell cycle arrest TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    cell morphogenesis involved in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin remodeling TAS
    Traceable Author Statement
    more info
    PubMed 
    digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    enucleate erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    glial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    hepatocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    maintenance of mitotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cell cycle checkpoint TAS
    Traceable Author Statement
    more info
    PubMed 
    myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of myofibroblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of protein kinase activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein localization to chromosome, centromeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell growth IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of centromere complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cohesin loading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of lipid kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    sister chromatid biorientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rb-E2F complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Rb-E2F complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rb-E2F complex TAS
    Traceable Author Statement
    more info
    PubMed 
    SWI/SNF complex TAS
    Traceable Author Statement
    more info
    PubMed 
    chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    colocalizes_with cyclin/CDK positive transcription elongation factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    colocalizes_with nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    retinoblastoma-associated protein
    Names
    GOS563 exon 17 substitution mutation causes premature stop
    exon 17 tumor GOS561 substitution mutation causes premature stop
    prepro-retinoblastoma-associated protein
    protein phosphatase 1, regulatory subunit 130
    retinoblastoma 1
    retinoblastoma suspectibility protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009009.1 RefSeqGene

      Range
      5001..183144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_517

    mRNA and Protein(s)

    1. NM_000321.2NP_000312.2  retinoblastoma-associated protein

      See identical proteins and their annotated locations for NP_000312.2

      Status: REVIEWED

      Source sequence(s)
      AL392048, BC040540, L41870
      Consensus CDS
      CCDS31973.1
      UniProtKB/Swiss-Prot
      P06400
      UniProtKB/TrEMBL
      A0A024RDV3
      Related
      ENSP00000267163.4, OTTHUMP00000018397, ENST00000267163.5, OTTHUMT00000044884
      Conserved Domains (4) summary
      pfam01857
      Location:646763
      RB_B; Retinoblastoma-associated protein B domain
      pfam01858
      Location:373573
      RB_A; Retinoblastoma-associated protein A domain
      pfam08934
      Location:768924
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:114225
      DUF3452; Domain of unknown function (DUF3452)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      48303747..48481890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535171.2XP_011533473.1  retinoblastoma-associated protein isoform X1

      Conserved Domains (4) summary
      pfam01857
      Location:559676
      RB_B; Retinoblastoma-associated protein B domain
      pfam01858
      Location:286486
      RB_A; Retinoblastoma-associated protein A domain
      pfam08934
      Location:681837
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:27138
      DUF3452; Domain of unknown function (DUF3452)
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