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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 Enzymes Human disease related genes Potential drug targets
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
5
Cytoband
p15.33
Chromosome location (bp)
1253147 - 1295068
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Nucleotidyltransferase, Ribonucleoprotein, RNA-directed DNA polymerase, Transferase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Magnesium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [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.
Enzymes ENZYME proteins Transferases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Other congenital disorders Chromosomal abnormalities Ribosomopathies Respiratory diseases Lung diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000049[tRNA binding] GO:0000333[telomerase catalytic core complex] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001172[RNA-templated transcription] GO:0001223[transcription coactivator binding] GO:0003677[DNA binding] GO:0003720[telomerase activity] GO:0003721[telomerase RNA reverse transcriptase activity] GO:0003723[RNA binding] GO:0003964[RNA-directed DNA polymerase activity] GO:0003968[RNA-directed 5'-3' RNA polymerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006278[RNA-templated DNA biosynthetic process] GO:0007004[telomere maintenance via telomerase] GO:0007005[mitochondrion organization] GO:0008022[protein C-terminus binding] GO:0010629[negative regulation of gene expression] GO:0016605[PML body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0016779[nucleotidyltransferase activity] GO:0022616[DNA strand elongation] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030422[siRNA processing] GO:0031379[RNA-directed RNA polymerase complex] GO:0031647[regulation of protein stability] GO:0032092[positive regulation of protein binding] GO:0042162[telomeric DNA binding] GO:0042635[positive regulation of hair cycle] GO:0042645[mitochondrial nucleoid] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043066[negative regulation of apoptotic process] GO:0043524[negative regulation of neuron apoptotic process] GO:0045766[positive regulation of angiogenesis] GO:0046326[positive regulation of glucose import] GO:0046686[response to cadmium ion] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0051087[chaperone binding] GO:0070034[telomerase RNA binding] GO:0070200[establishment of protein localization to telomere] GO:0071456[cellular response to hypoxia] GO:0071897[DNA biosynthetic process] GO:0090399[replicative senescence] GO:0098680[template-free RNA nucleotidyltransferase] GO:0140745[siRNA transcription] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle] GO:1902895[positive regulation of miRNA transcription] GO:1903620[positive regulation of transdifferentiation] GO:1903799[negative regulation of miRNA maturation] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1904751[positive regulation of protein localization to nucleolus] GO:1904754[positive regulation of vascular associated smooth muscle cell migration] GO:1990572[TERT-RMRP complex] GO:1990904[ribonucleoprotein complex] GO:2000352[negative regulation of endothelial cell apoptotic process] GO:2000648[positive regulation of stem cell proliferation] GO:2000773[negative regulation of cellular senescence] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Enzymes ENZYME proteins Transferases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Skin cancers Cancers of eye, brain, and central nervous system Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Other congenital disorders Chromosomal abnormalities Ribosomopathies Respiratory diseases Lung diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000049[tRNA binding] GO:0000333[telomerase catalytic core complex] GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001172[RNA-templated transcription] GO:0001223[transcription coactivator binding] GO:0003677[DNA binding] GO:0003720[telomerase activity] GO:0003721[telomerase RNA reverse transcriptase activity] GO:0003723[RNA binding] GO:0003964[RNA-directed DNA polymerase activity] GO:0003968[RNA-directed 5'-3' RNA polymerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005697[telomerase holoenzyme complex] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006278[RNA-templated DNA biosynthetic process] GO:0007004[telomere maintenance via telomerase] GO:0007005[mitochondrion organization] GO:0008022[protein C-terminus binding] GO:0010629[negative regulation of gene expression] GO:0016605[PML body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0016779[nucleotidyltransferase activity] GO:0022616[DNA strand elongation] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030422[siRNA processing] GO:0031379[RNA-directed RNA polymerase complex] GO:0031647[regulation of protein stability] GO:0032092[positive regulation of protein binding] GO:0042162[telomeric DNA binding] GO:0042635[positive regulation of hair cycle] GO:0042645[mitochondrial nucleoid] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0051087[chaperone binding] GO:0070034[telomerase RNA binding] GO:0070200[establishment of protein localization to telomere] GO:0071456[cellular response to hypoxia] GO:0071897[DNA biosynthetic process] GO:0090399[replicative senescence] GO:0098680[template-free RNA nucleotidyltransferase] GO:0140745[siRNA transcription] GO:1902895[positive regulation of miRNA transcription] GO:1903799[negative regulation of miRNA maturation] GO:1904751[positive regulation of protein localization to nucleolus] GO:1990572[TERT-RMRP complex] GO:1990904[ribonucleoprotein complex] GO:2000648[positive regulation of stem cell proliferation] GO:2000773[negative regulation of cellular senescence] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
The Human Protein Atlas project is funded
