Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about POT1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
POT1 is a gene implicated in neurodegeneration research. Key relationships include: interacts with, associated with, activates. Associated with Als, Cancer, Melanoma. Connected to 56 entities in the SciDEX knowledge graph.
| Gene Symbol | POT1 |
| Full Name | Protection of Telomeres 1 |
| Chromosome | 7q31.33 |
| Function | is a critical component of the shelterin complex that protects telomeres from inappropriate DNA repair and regulates telomerase access. |
| Primary Expression | Ubiquitous, highest in testis, lymphoid tissues |
| Amino Acids | 634 aa |
| Pathways | Telomere |
| UniProt ID | Q9H2R9 |
| NCBI Gene ID | 54281 |
| Ensembl ID | ENSG00000128513 |
| OMIM | 607713 |
| GeneCards | POT1 |
| Human Protein Atlas | POT1 |
| Associated Diseases | Als, Cancer, Melanoma, Ovarian Cancer, Pancreatic Cancer |
| Interactions | TPP1, MRE11, MUTYH, SAMHD1, NBS1, LMNA |
| KG Connections | 55 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
POT1["<b>POT1</b>"]
Als{"Als"}
POT1 -->|"interacts with"| Als
Senescence{"Senescence"}
POT1 -->|"interacts with"| Senescence
Ms{"Ms"}
POT1 -->|"interacts with"| Ms
TPP1["TPP1"]
POT1 -->|"interacts with"| TPP1
Akt(["Akt"])
POT1 -->|"interacts with"| Akt
MRE11["MRE11"]
POT1 -->|"interacts with"| MRE11
MUTYH["MUTYH"]
POT1 -->|"interacts with"| MUTYH
SAMHD1["SAMHD1"]
POT1 -->|"interacts with"| SAMHD1
NBS1["NBS1"]
POT1 -->|"interacts with"| NBS1
LMNA["LMNA"]
POT1 -->|"interacts with"| LMNA
WRN["WRN"]
POT1 -->|"interacts with"| WRN
MDM2["MDM2"]
POT1 -->|"interacts with"| MDM2
TREX1["TREX1"]
TREX1 -->|"interacts with"| POT1
VCP["VCP"]
VCP -->|"interacts with"| POT1
NEIL1["NEIL1"]
NEIL1 -->|"interacts with"| POT1
COMPLEMENT["COMPLEMENT"]
COMPLEMENT -->|"interacts with"| POT1
POLD1["POLD1"]
POLD1 -->|"interacts with"| POT1
P53["P53"]
P53 -->|"interacts with"| POT1
style POT1 fill:#1a3a4a,stroke:#4fc3f7,stroke-width:3px,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Melanoma | associated_with | disease | 0.75 |
| Als | interacts_with | disease | 0.65 |
| Senescence | interacts_with | disease | 0.65 |
| Ms | interacts_with | disease | 0.65 |
| Ovarian Cancer | associated_with | disease | 0.65 |
| Cancer | associated_with | disease | 0.65 |
| Als | associated_with | disease | 0.65 |
| Pancreatic Cancer | associated_with | disease | 0.65 |
| Tumor | contributes_to | disease | 0.65 |
| Cancer | contributes_to | disease | 0.65 |
| Als | contributes_to | disease | 0.65 |
| Melanoma | activates | disease | 0.65 |
| Cancer | activates | disease | 0.65 |
| Als | activates | disease | 0.65 |
| TPP1 | interacts_with | gene | 0.60 |
| MRE11 | interacts_with | gene | 0.60 |
| MUTYH | interacts_with | gene | 0.60 |
| SAMHD1 | interacts_with | gene | 0.60 |
| NBS1 | interacts_with | gene | 0.60 |
| LMNA | interacts_with | gene | 0.60 |
| WRN | interacts_with | gene | 0.60 |
| MDM2 | interacts_with | gene | 0.60 |
| CTC1 | interacts_with | gene | 0.60 |
| ATM | interacts_with | gene | 0.60 |
| Akt | interacts_with | pathway | 0.60 |
| Complement | interacts_with | pathway | 0.60 |
| Cell Cycle | contributes_to | pathway | 0.60 |
| Epigenetic | contributes_to | pathway | 0.60 |
| Telomere | activates | pathway | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| CDKN2A | associated_with | gene | 0.70 |
| CDK4 | associated_with | gene | 0.70 |
| GENES | associated_with | gene | 0.70 |
| TREX1 | interacts_with | gene | 0.60 |
| VCP | interacts_with | gene | 0.60 |
| NEIL1 | interacts_with | gene | 0.60 |
| POLD1 | interacts_with | gene | 0.60 |
| PTEN | associated_with | gene | 0.60 |
| BRCA1 | associated_with | gene | 0.60 |
| MITF | associated_with | gene | 0.60 |
| BAP1 | associated_with | gene | 0.60 |
| TERT | associated_with | gene | 0.60 |
| MITF | contributes_to | gene | 0.60 |
| TERT | interacts_with | gene | 0.60 |
| BRAF | activates | gene | 0.60 |
| CDKN2A | interacts_with | gene | 0.60 |
| TP53 | activates | gene | 0.60 |
| NF1 | activates | gene | 0.60 |
| CDK4 | interacts_with | gene | 0.60 |
| NRAS | activates | gene | 0.60 |
| COMPLEMENT | interacts_with | gene | 0.60 |
| P53 | interacts_with | gene | 0.60 |
| CANCER | associated_with | gene | 0.60 |
| CANCER | contributes_to | gene | 0.60 |
| CANCER | activates | gene | 0.60 |
| GENES | interacts_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||