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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.
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
8
Cytoband
q21.11
Chromosome location (bp)
73008856 - 73048123
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and negatively regulates telomere length. Involved in the regulation of the mitotic spindle. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, Mitosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Multiple transcripts of this gene are alternatively spliced products. [provided by RefSeq, Aug 2022]...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.
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001650[fibrillar center] GO:0003677[DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003720[telomerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0007004[telomere maintenance via telomerase] GO:0007049[cell cycle] GO:0008017[microtubule binding] GO:0008022[protein C-terminus binding] GO:0008156[negative regulation of DNA replication] GO:0008301[DNA binding, bending] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032214[negative regulation of telomere maintenance via semi-conservative replication] GO:0042162[telomeric DNA binding] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043229[intracellular organelle] GO:0051301[cell division] GO:0051974[negative regulation of telomerase activity] GO:0060090[molecular adaptor activity] GO:0061820[telomeric D-loop disassembly] GO:0070187[shelterin complex] GO:0071532[ankyrin repeat binding] GO:0090656[t-circle formation] GO:0098505[G-rich strand telomeric DNA binding] GO:1904357[negative regulation of telomere maintenance via telomere lengthening] GO:1904792[positive regulation of shelterin complex assembly] GO:1904850[negative regulation of establishment of protein localization to telomere] GO:1904911[negative regulation of establishment of RNA localization to telomere] GO:1904914[negative regulation of establishment of protein-containing complex localization to telomere] GO:1905778[negative regulation of exonuclease activity] GO:1905839[negative regulation of telomeric D-loop disassembly]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001650[fibrillar center] GO:0003677[DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003720[telomerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005819[spindle] GO:0005856[cytoskeleton] GO:0007004[telomere maintenance via telomerase] GO:0007049[cell cycle] GO:0008017[microtubule binding] GO:0008156[negative regulation of DNA replication] GO:0008301[DNA binding, bending] GO:0009410[response to xenobiotic stimulus] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0032206[positive regulation of telomere maintenance] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032214[negative regulation of telomere maintenance via semi-conservative replication] GO:0042162[telomeric DNA binding] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043229[intracellular organelle] GO:0045141[meiotic telomere clustering] GO:0051301[cell division] GO:0051974[negative regulation of telomerase activity] GO:0060090[molecular adaptor activity] GO:0061820[telomeric D-loop disassembly] GO:0070187[shelterin complex] GO:0071532[ankyrin repeat binding] GO:0090656[t-circle formation] GO:0098505[G-rich strand telomeric DNA binding] GO:1904357[negative regulation of telomere maintenance via telomere lengthening] GO:1904792[positive regulation of shelterin complex assembly] GO:1904850[negative regulation of establishment of protein localization to telomere] GO:1904911[negative regulation of establishment of RNA localization to telomere] GO:1904914[negative regulation of establishment of protein-containing complex localization to telomere] GO:1905778[negative regulation of exonuclease activity] GO:1905839[negative regulation of telomeric D-loop disassembly]
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
