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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
13
Cytoband
q14.2
Chromosome location (bp)
48303744 - 48599436
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle 1. The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes 2. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription 3. Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase 4. RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C 5. 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, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the urinary system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000082[G1/S transition of mitotic cell cycle] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0001558[regulation of cell growth] GO:0001894[tissue homeostasis] GO:0002062[chondrocyte differentiation] GO:0003180[aortic valve morphogenesis] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005819[spindle] GO:0005829[cytosol] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0006469[negative regulation of protein kinase activity] GO:0006915[apoptotic process] GO:0007049[cell cycle] GO:0007224[smoothened signaling pathway] GO:0007265[Ras protein signal transduction] GO:0007283[spermatogenesis] GO:0007346[regulation of mitotic cell cycle] GO:0008024[cyclin/CDK positive transcription elongation factor complex] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0010629[negative regulation of gene expression] GO:0014009[glial cell proliferation] GO:0016514[SWI/SNF complex] GO:0016605[PML body] GO:0019899[enzyme binding] GO:0019900[kinase binding] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030308[negative regulation of cell growth] GO:0031134[sister chromatid biorientation] GO:0031175[neuron projection development] GO:0031507[heterochromatin formation] GO:0031625[ubiquitin protein ligase binding] GO:0032869[cellular response to insulin stimulus] GO:0034088[maintenance of mitotic sister chromatid cohesion] GO:0034349[glial cell apoptotic process] GO:0035189[Rb-E2F complex] GO:0035914[skeletal muscle cell differentiation] GO:0042551[neuron maturation] GO:0042802[identical protein binding] GO:0043229[intracellular organelle] GO:0043353[enucleate erythrocyte differentiation] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043550[regulation of lipid kinase activity] GO:0045445[myoblast differentiation] GO:0045651[positive regulation of macrophage differentiation] GO:0045786[negative regulation of cell cycle] GO:0045842[positive regulation of mitotic metaphase/anaphase transition] GO:0045879[negative regulation of smoothened signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0045930[negative regulation of mitotic cell cycle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048565[digestive tract development] GO:0048667[cell morphogenesis involved in neuron differentiation] GO:0050673[epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050728[negative regulation of inflammatory response] GO:0051146[striated muscle cell differentiation] GO:0051219[phosphoprotein binding] GO:0051276[chromosome organization] GO:0051301[cell division] GO:0051402[neuron apoptotic process] GO:0051726[regulation of cell cycle] GO:0060090[molecular adaptor activity] GO:0060253[negative regulation of glial cell proliferation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061676[importin-alpha family protein binding] GO:0061793[chromatin lock complex] GO:0071459[protein localization to chromosome, centromeric region] GO:0071466[cellular response to xenobiotic stimulus] GO:0071901[negative regulation of protein serine/threonine kinase activity] GO:0071930[negative regulation of transcription involved in G1/S transition of mitotic cell cycle] GO:0090230[regulation of centromere complex assembly] GO:0097284[hepatocyte apoptotic process] GO:0097718[disordered domain specific binding] GO:0120163[negative regulation of cold-induced thermogenesis] GO:0140297[DNA-binding transcription factor binding] GO:1902948[negative regulation of tau-protein kinase activity] GO:1903055[positive regulation of extracellular matrix organization] GO:1903944[negative regulation of hepatocyte apoptotic process] GO:1904028[positive regulation of collagen fibril organization] GO:1904761[negative regulation of myofibroblast differentiation] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle] GO:2000679[positive regulation of transcription regulatory region DNA binding] GO:2001234[negative regulation of apoptotic signaling pathway]
A0A2R8Y743 [Direct mapping] Retinoblastoma-associated protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the urinary system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
A0A2R8YFL6 [Direct mapping] Retinoblastoma-associated protein
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the urinary system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
A0A3B3IS71 [Direct mapping] Retinoblastoma-associated protein
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MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cancers of the lung and pleura Cancers of soft tissues and bone Cancers of the urinary system Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
