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 |
|---|---|---|---|---|---|
OMIM IDMIM:606478 Ensembl IDEnsembl:ENSG00000128513 HGNC IDHGNC:HGNC:17284 PHARMGKB IDPA134934904 Map Location7q31.33 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in POT1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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