POT1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| protection of telomeres 1 | MIM:606478 | Ensembl:ENSG00000128513 | HGNC:HGNC:17284 | PA134934904 | 7q31.33 |
Gene Categories:
RNA DIRECTED DNA POLYMERASEGO terms in POT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0010521 | telomerase inhibitor activity |
| MF | IDA | GO:0010521 | telomerase inhibitor activity |
| MF | IPI | GO:0017151 | DEAD/H-box RNA helicase binding |
| MF | IDA | GO:0042162 | telomeric DNA binding |
| MF | IDA | GO:0043047 | single-stranded telomeric DNA binding |
| MF | IMP | GO:0043047 | single-stranded telomeric DNA binding |
| MF | IDA | GO:0061821 | telomeric D-loop binding |
| MF | IDA | GO:0061849 | telomeric G-quadruplex DNA binding |
| MF | IBA | GO:0098505 | G-rich strand telomeric DNA binding |
| MF | IDA | GO:0098505 | G-rich strand telomeric DNA binding |
| MF | IDA | GO:1905773 | 8-hydroxy-2'-deoxyguanosine DNA binding |
| MF | IDA | GO:1990955 | G-rich single-stranded DNA binding |
| BP | IDA | GO:0007004 | telomere maintenance via telomerase |
| BP | IBA | GO:0016233 | telomere capping |
| BP | IGI | GO:0016233 | telomere capping |
| BP | IMP | GO:0016233 | telomere capping |
| BP | TAS | GO:0016233 | telomere capping |
| BP | IDA | GO:0032202 | telomere assembly |
| BP | IBA | GO:0032210 | regulation of telomere maintenance via telomerase |
| BP | IGI | GO:0032210 | regulation of telomere maintenance via telomerase |
| BP | IGI | GO:0032211 | negative regulation of telomere maintenance via telomerase |
| BP | TAS | GO:0032211 | negative regulation of telomere maintenance via telomerase |
| BP | IDA | GO:0032212 | positive regulation of telomere maintenance via telomerase |
| BP | IMP | GO:0032212 | positive regulation of telomere maintenance via telomerase |
| BP | IDA | GO:0032508 | DNA duplex unwinding |
| BP | IDA | GO:0051096 | positive regulation of helicase activity |
| BP | IDA | GO:0051973 | positive regulation of telomerase activity |
| BP | IMP | GO:0051973 | positive regulation of telomerase activity |
| BP | IBA | GO:0051974 | negative regulation of telomerase activity |
| BP | IDA | GO:0051974 | negative regulation of telomerase activity |
| BP | IDA | GO:0060383 | positive regulation of DNA strand elongation |
| BP | IGI | GO:0061820 | telomeric D-loop disassembly |
| BP | IMP | GO:0070200 | establishment of protein localization to telomere |
| BP | IDA | GO:1905774 | regulation of DNA helicase activity |
| BP | IDA | GO:1905776 | positive regulation of DNA helicase activity |
| CC | IDA | GO:0000781 | chromosome, telomeric region |
| CC | IBA | GO:0000783 | nuclear telomere cap complex |
| CC | IDA | GO:0000783 | nuclear telomere cap complex |
| CC | HDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0070187 | shelterin complex |
| CC | IMP | GO:0070187 | shelterin complex |
| CC | TAS | GO:0070187 | shelterin complex |
Gene expression in normal tissue: POT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in POT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | telomerasepathway | Regulation of Telomerase |
| reactome | R-HSA-1221632 | Meiotic synapsis |
| reactome | R-HSA-1474165 | Reproduction |
| reactome | R-HSA-1500620 | Meiosis |
| reactome | R-HSA-157579 | Telomere Maintenance |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-171306 | Packaging Of Telomere Ends |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence |
| reactome | R-HSA-73886 | Chromosome Maintenance |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POT1
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