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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).
Disease related genes Enzymes Human disease related genes Plasma proteins 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
20
Cytoband
q13.33
Chromosome location (bp)
63657810 - 63696253
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Helicase, Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]...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.
Q9NZ71 [Direct mapping] Regulator of telomere elongation helicase 1
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Enzymes ENZYME proteins Hydrolases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000166[nucleotide binding] GO:0000723[telomere maintenance] GO:0000732[strand displacement] GO:0000781[chromosome, telomeric region] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006139[nucleobase-containing compound metabolic process] GO:0006259[DNA metabolic process] GO:0006260[DNA replication] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0016043[cellular component organization] GO:0016787[hydrolase activity] GO:0016818[hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887[ATP hydrolysis activity] GO:0031297[replication fork processing] GO:0032206[positive regulation of telomere maintenance] GO:0032508[DNA duplex unwinding] GO:0043247[telomere maintenance in response to DNA damage] GO:0045910[negative regulation of DNA recombination] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0070182[DNA polymerase binding] GO:0090657[telomeric loop disassembly] GO:1902990[mitotic telomere maintenance via semi-conservative replication] GO:1904355[positive regulation of telomere capping] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904430[negative regulation of t-circle formation] GO:1904506[negative regulation of telomere maintenance in response to DNA damage] GO:1904535[positive regulation of telomeric loop disassembly]
Q9NZ71 [Direct mapping] Regulator of telomere elongation helicase 1
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Enzymes ENZYME proteins Hydrolases MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Cardiovascular diseases Hematologic diseases Other congenital disorders Ribosomopathies Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000166[nucleotide binding] GO:0000723[telomere maintenance] GO:0000732[strand displacement] GO:0000781[chromosome, telomeric region] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006139[nucleobase-containing compound metabolic process] GO:0006259[DNA metabolic process] GO:0006260[DNA replication] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0016043[cellular component organization] GO:0016787[hydrolase activity] GO:0016818[hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887[ATP hydrolysis activity] GO:0031297[replication fork processing] GO:0032206[positive regulation of telomere maintenance] GO:0032508[DNA duplex unwinding] GO:0043247[telomere maintenance in response to DNA damage] GO:0045910[negative regulation of DNA recombination] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0070182[DNA polymerase binding] GO:0090657[telomeric loop disassembly] GO:1902990[mitotic telomere maintenance via semi-conservative replication] GO:1904355[positive regulation of telomere capping] GO:1904358[positive regulation of telomere maintenance via telomere lengthening] GO:1904430[negative regulation of t-circle formation] GO:1904506[negative regulation of telomere maintenance in response to DNA damage] GO:1904535[positive regulation of telomeric loop disassembly]
A0A2R8YD56 [Direct mapping] Regulator of telomere elongation helicase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Cardiovascular diseases Hematologic diseases Other congenital disorders Ribosomopathies
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