| Gene Symbol | MCOLN1 |
| Full Name | Mucolipin-1 (TRPML1) |
| Aliases | TRPML1 |
| Chromosome | 19p13.2 |
| Protein Type | Ion Channel |
| Target Class | Ion Channel |
| Function | Lysosomal calcium concentration (~0.5 mM) is maintained by H+/Ca2+ exchangers, and TRPML1 activation generates local calcium microdomains essential for lysosomal fusion events (calcium-dependent SNARE |
| Mechanism of Action | Small molecule agonists or modulators of lysosomal calcium channel activity |
| Druggability | Low (0.41) |
| Clinical Stage | Phase I |
| Exons | 14 |
| Pathways | Autophagy, Calcium Signaling, Glycolysis, Immune Response, Oxidative Phosphorylation |
| UniProt ID | M0QXD0 |
| NCBI Gene ID | 57192 |
| Ensembl ID | ENSG00000090674 |
| OMIM | 605248 |
| GeneCards | MCOLN1 |
| Human Protein Atlas | MCOLN1 |
| Associated Diseases | Als, ALZHEIMER, Amyotrophic Lateral Sclerosis, Ataxia, Breast Cancer |
| Known Drugs/Compounds | Mk6-83, MK6-83, Ml-Sa5, ML-SA5, rapamycin, ribociclib |
| Interactions | ACTB, ALS, AMPK, amyotrophic lateral sclerosis, AND, AR |
| SciDEX Target | View Target Profile (1 clinical trials) |
| SciDEX Hypotheses | Lysosomal Calcium Channel Modulation Therapy |
| KG Connections | 513 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
No AI portrait yet
No comments yet. Be the first to comment!