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| # | Reference Title | Reference Citation |
| 1. | Protection of telomeres 1 protein levels are associated with telomere length in gastric cancer. | Fujii K, etal., Int J Mol Med. 2008 May;21(5):599-604. |
| 2. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility. | Hosgood HD, etal., Lung Cancer. 2009 Nov;66(2):157-61. doi: 10.1016/j.lungcan.2009.02.005. Epub 2009 Mar 13. |
| 4. | Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. | Ishigaki K, etal., Nat Genet. 2020 Jul;52(7):669-679. doi: 10.1038/s41588-020-0640-3. Epub 2020 Jun 8. |
| 5. | Telomere 1 (POT1) gene expression and its association with telomerase activity in colorectal tumor samples with different pathological features. | Izgi A, etal., Biomed Pharmacother. 2014 Sep;68(7):841-6. doi: 10.1016/j.biopha.2014.08.014. Epub 2014 Aug 20. |
| 6. | Prognostic impact of telomere maintenance gene polymorphisms on hepatocellular carcinoma patients with chronic hepatitis B. | Jung SW, etal., Hepatology. 2014 May;59(5):1912-20. doi: 10.1002/hep.26655. Epub 2014 Mar 27. |
| 7. | Telomere structure and maintenance gene variants and risk of five cancer types. | Karami S, etal., Int J Cancer. 2016 Dec 15;139(12):2655-2670. doi: 10.1002/ijc.30288. Epub 2016 Sep 8. |
| 8. | Telomere length variation and expression analysis of shelterin complex genes during gallbladder carcinogenesis. | Poojary SS, etal., J Cancer Res Ther. 2017 Apr-Jun;13(2):235-239. doi: 10.4103/0973-1482.184512. |
| 9. | GOA pipeline | RGD automated data pipeline |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 12. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 13. | Telomere Maintenance Variants and Survival after Colorectal Cancer: Smoking- and Sex-Specific Associations. | Yin H, etal., Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1817-1824. doi: 10.1158/1055-9965.EPI-19-1507. Epub 2020 Jun 25. |
| PMID:12768206 | PMID:12781132 | PMID:15181449 | PMID:15383534 | PMID:15632080 | PMID:15657433 | PMID:16030011 | PMID:16043710 | PMID:16880378 | PMID:17053789 | PMID:17237767 | PMID:17237768 |
| PMID:17632522 | PMID:19135898 | PMID:19734539 | PMID:19854130 | PMID:21852327 | PMID:22039056 | PMID:22763445 | PMID:23685356 | PMID:24120135 | PMID:24270157 | PMID:25589350 | PMID:26586433 |
| PMID:29227966 |
| Pot1 (Rattus norvegicus - Norway rat) |
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| POT1 (Homo sapiens - human) |
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| Pot1a (Mus musculus - house mouse) |
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| Pot1 (Chinchilla lanigera - long-tailed chinchilla) |
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| POT1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| POT1 (Canis lupus familiaris - dog) |
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| Pot1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| POT1 (Sus scrofa - pig) |
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| POT1 (Chlorocebus sabaeus - green monkey) |
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| Pot1 (Heterocephalus glaber - naked mole-rat) |
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| Pot1 (Rattus rattus - black rat) |
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.
Variants in Pot1
350 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 | 16 | 12 | 150 | 249 | 91 | 90 | 65 | 139 | 59 | 22 | 485 | 331 | 11 | 228 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001395151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001395152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008762811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017592783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063286481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010065689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010065690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_353175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | BC085834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC090024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000060459 ⟹ ENSRNOP00000057203 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000079130 ⟹ ENSRNOP00000070115 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000080575 ⟹ ENSRNOP00000070503 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001395151 ⟹ NP_001382080 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001395152 ⟹ NP_001382081 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_008762811 ⟹ XP_008761033 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_063286481 ⟹ XP_063142551 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010065689 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010065690 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001382080 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001382081 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008761033 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063142551 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH85834 | (Get FASTA) | NCBI Sequence Viewer |
| EDM15184 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000057203.2 | ||
| ENSRNOP00000070115 | |||
| ENSRNOP00000070115.1 | |||
| ENSRNOP00000070503.3 |
| RefSeq Acc Id: | XP_008761033 ⟸ XM_008762811 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | A0A0G2JY35 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000070115 ⟸ ENSRNOT00000079130 |
| Ensembl Acc Id: | ENSRNOP00000070503 ⟸ ENSRNOT00000080575 |
| Ensembl Acc Id: | ENSRNOP00000057203 ⟸ ENSRNOT00000060459 |
| RefSeq Acc Id: | NP_001382081 ⟸ NM_001395152 |
| - UniProtKB: | A0A0G2JX31 (UniProtKB/TrEMBL), A6IE97 (UniProtKB/TrEMBL), A0A0G2JY35 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | NP_001382080 ⟸ NM_001395151 |
| - UniProtKB: | A0A0G2JX31 (UniProtKB/TrEMBL), A6IE97 (UniProtKB/TrEMBL), A0A0G2JY35 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063142551 ⟸ XM_063286481 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A0G2JX31 (UniProtKB/TrEMBL), A6IE97 (UniProtKB/TrEMBL), A0A0G2JY35 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2JX31-F1-model_v2 | AlphaFold | A0A0G2JX31 | 1-638 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13692917 | ||||||||
| Promoter ID: | EPDNEW_R3433 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Pot1_1 | ||||||||
| Description: | protection of telomeres 1 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1562696 | AgrOrtholog |
| BioCyc Gene | G2FUF-45462 | BioCyc |
| Ensembl Genes | ENSRNOG00000019986 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| ENSRNOG00000047439 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENSRNOT00000060459.5 | UniProtKB/TrEMBL |
| ENSRNOT00000079130 | ENTREZGENE | |
| ENSRNOT00000079130.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000080575.3 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.40.50.140 | UniProtKB/TrEMBL |
| IMAGE_CLONE | IMAGE:7134840 | IMAGE-MGC_LOAD |
| InterPro | NA-bd_OB-fold | UniProtKB/TrEMBL |
| POT1 | UniProtKB/TrEMBL | |
| POT1_C_insert | UniProtKB/TrEMBL | |
| POT1PC | UniProtKB/TrEMBL | |
| Telomer_end_bd | UniProtKB/TrEMBL | |
| MGC_CLONE | MGC:94460 | IMAGE-MGC_LOAD |
| NCBI Gene | 500054 | ENTREZGENE |
| PANTHER | PROTECTION OF TELOMERES PROTEIN 1 | UniProtKB/TrEMBL |
| PTHR14513 | UniProtKB/TrEMBL | |
| Pfam | POT1_C_insert | UniProtKB/TrEMBL |
| POT1PC | UniProtKB/TrEMBL | |
| Telo_bind | UniProtKB/TrEMBL | |
| PhenoGen | Pot1 | PhenoGen |
| RatGTEx | ENSRNOG00000019986 | RatGTEx |
| ENSRNOG00000047439 | RatGTEx | |
| SMART | Telo_bind | UniProtKB/TrEMBL |
| Superfamily-SCOP | Nucleic_acid_OB | UniProtKB/TrEMBL |
| UniProt | A0A0G2JX31 | ENTREZGENE, UniProtKB/TrEMBL |
| A0A0G2JY35 | ENTREZGENE, UniProtKB/TrEMBL | |
| A6IE97 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q5U2W8_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2013-01-31 | Pot1 | protection of telomeres 1 | Pot1 | protection of telomeres 1 homolog (S. pombe) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-02-02 | Pot1 | protection of telomeres 1 homolog (S. pombe) | Pot1a | protection of telomeres 1A | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2010-05-21 | Pot1a | protection of telomeres 1A | Pot1 | protection of telomeres 1A | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2010-04-21 | Pot1 | protection of telomeres 1A | LOC500054 | similar to POT1-like telomere end-binding protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-02-09 | LOC500054 | similar to POT1-like telomere end-binding protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |