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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
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
7
Cytoband
q31.33
Chromosome location (bp)
124822386 - 124929983
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG 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. Binds to two or more telomeric single-stranded 5'- TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [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.
Q9NUX5 [Direct mapping] Protection of telomeres protein 1
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A0A024R739 [Target identity:100%; Query identity:100%] Protection of telomeres protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system 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:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0007004[telomere maintenance via telomerase] GO:0010521[telomerase inhibitor activity] GO:0016233[telomere capping] GO:0017151[DEAD/H-box RNA helicase binding] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0032508[DNA duplex unwinding] GO:0042162[telomeric DNA binding] GO:0043047[single-stranded telomeric DNA binding] GO:0051096[positive regulation of helicase activity] GO:0051973[positive regulation of telomerase activity] GO:0051974[negative regulation of telomerase activity] GO:0060383[positive regulation of DNA strand elongation] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0070187[shelterin complex] GO:0070200[establishment of protein localization to telomere] GO:0098505[G-rich strand telomeric DNA binding] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1905774[regulation of DNA helicase activity] GO:1905776[positive regulation of DNA helicase activity] GO:1990955[G-rich single-stranded DNA binding] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
A8MTK3 [Direct mapping] POT1 protection of telomeres 1 homolog (S. pombe), isoform CRA_a; Protection of telomeres protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
C9JPG9 [Direct mapping] Protection of telomeres protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Protein evidence (Ezkurdia et al 2014)
V9GZ00 [Direct mapping] Protection of telomeres protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Protein evidence (Ezkurdia et al 2014)
Q9NUX5 [Direct mapping] Protection of telomeres protein 1
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A0A024R739 [Target identity:100%; Query identity:100%] Protection of telomeres protein 1
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level 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:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0007004[telomere maintenance via telomerase] GO:0010521[telomerase inhibitor activity] GO:0016233[telomere capping] GO:0017151[DEAD/H-box RNA helicase binding] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0032508[DNA duplex unwinding] GO:0042162[telomeric DNA binding] GO:0043047[single-stranded telomeric DNA binding] GO:0051096[positive regulation of helicase activity] GO:0051973[positive regulation of telomerase activity] GO:0051974[negative regulation of telomerase activity] GO:0060383[positive regulation of DNA strand elongation] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0070187[shelterin complex] GO:0070200[establishment of protein localization to telomere] GO:0098505[G-rich strand telomeric DNA binding] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1905774[regulation of DNA helicase activity] GO:1905776[positive regulation of DNA helicase activity] GO:1990955[G-rich single-stranded DNA binding] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
A0A590UJF7 [Direct mapping] Protection of telomeres protein 1
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MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Protein evidence (Ezkurdia et al 2014)
Q9NUX5 [Direct mapping] Protection of telomeres protein 1
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A0A024R739 [Target identity:100%; Query identity:100%] Protection of telomeres protein 1
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MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level 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:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0007004[telomere maintenance via telomerase] GO:0010521[telomerase inhibitor activity] GO:0016233[telomere capping] GO:0017151[DEAD/H-box RNA helicase binding] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0032508[DNA duplex unwinding] GO:0042162[telomeric DNA binding] GO:0043047[single-stranded telomeric DNA binding] GO:0051096[positive regulation of helicase activity] GO:0051973[positive regulation of telomerase activity] GO:0051974[negative regulation of telomerase activity] GO:0060383[positive regulation of DNA strand elongation] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0070187[shelterin complex] GO:0070200[establishment of protein localization to telomere] GO:0098505[G-rich strand telomeric DNA binding] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1905774[regulation of DNA helicase activity] GO:1905776[positive regulation of DNA helicase activity] GO:1990955[G-rich single-stranded DNA binding] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
Q9NUX5 [Direct mapping] Protection of telomeres protein 1
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A0A024R739 [Target identity:100%; Query identity:100%] Protection of telomeres protein 1
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level 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:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0007004[telomere maintenance via telomerase] GO:0010521[telomerase inhibitor activity] GO:0016233[telomere capping] GO:0017151[DEAD/H-box RNA helicase binding] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0032508[DNA duplex unwinding] GO:0042162[telomeric DNA binding] GO:0043047[single-stranded telomeric DNA binding] GO:0051096[positive regulation of helicase activity] GO:0051973[positive regulation of telomerase activity] GO:0051974[negative regulation of telomerase activity] GO:0060383[positive regulation of DNA strand elongation] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0070187[shelterin complex] GO:0070200[establishment of protein localization to telomere] GO:0098505[G-rich strand telomeric DNA binding] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1905774[regulation of DNA helicase activity] GO:1905776[positive regulation of DNA helicase activity] GO:1990955[G-rich single-stranded DNA binding] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
Q9NUX5 [Direct mapping] Protection of telomeres protein 1
Show all
A0A024R739 [Target identity:100%; Query identity:100%] Protection of telomeres protein 1
Show all
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes Human disease related genes Cancers Skin cancers Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0007004[telomere maintenance via telomerase] GO:0010521[telomerase inhibitor activity] GO:0016233[telomere capping] GO:0017151[DEAD/H-box RNA helicase binding] GO:0032202[telomere assembly] GO:0032206[positive regulation of telomere maintenance] GO:0032210[regulation of telomere maintenance via telomerase] GO:0032211[negative regulation of telomere maintenance via telomerase] GO:0032212[positive regulation of telomere maintenance via telomerase] GO:0032508[DNA duplex unwinding] GO:0042162[telomeric DNA binding] GO:0043047[single-stranded telomeric DNA binding] GO:0051096[positive regulation of helicase activity] GO:0051973[positive regulation of telomerase activity] GO:0051974[negative regulation of telomerase activity] GO:0060383[positive regulation of DNA strand elongation] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0070187[shelterin complex] GO:0070200[establishment of protein localization to telomere] GO:0098505[G-rich strand telomeric DNA binding] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1905774[regulation of DNA helicase activity] GO:1905776[positive regulation of DNA helicase activity] GO:1990955[G-rich single-stranded DNA binding] GO:2001032[regulation of double-strand break repair via nonhomologous end joining]
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