Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about MCOLN1: 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.
MCOLN1 is a gene implicated in neurodegeneration research. Key relationships include: associated with, activates, regulates. Associated with ALS, Als, Amyotrophic Lateral Sclerosis. Connected to 196 entities in the SciDEX knowledge graph.
| Gene Symbol | MCOLN1 |
| Full Name | Mucolipin TRP Cation Channel 1 |
| Aliases | TRPML1, ML4, MST034 |
| 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 | Ml-Sa5, Mk6-83, ML-SA5, MK6-83, ribociclib, Ribociclib |
| Interactions | CALCINEURIN, ATG12, ATG10, P38, STX17, VAMP8 |
| SciDEX Target | View Target Profile (1 clinical trials) |
| SciDEX Hypotheses | Lysosomal Calcium Channel Modulation Therapy |
| KG Connections | 529 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
MCOLN1["MCOLN1"] -->|"Regulates"| lysosomal_hydrolytic_capacity["lysosomal hydrolytic capacity"]
MCOLN1["MCOLN1"] -->|"Regulates"| autophagy["autophagy"]
MCOLN1["MCOLN1"] -->|"Regulates"| zinc["zinc"]
MCOLN1["MCOLN1"] -->|"Treats"| cancer["cancer"]
MCOLN1["MCOLN1"] -->|"Associated With"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
MCOLN1["MCOLN1"] -->|"Activates"| Neurodegeneration["Neurodegeneration"]
MCOLN1["MCOLN1"] -->|"Associated With"| Ataxia["Ataxia"]
MCOLN1["MCOLN1"] -->|"Associated With"| Als["Als"]
h_8ef34c4c["h-8ef34c4c"] -->|"Targets Gene"| MCOLN1["MCOLN1"]
AMPK["AMPK"] -->|"Activates"| MCOLN1["MCOLN1"]
PIKFYVE["PIKFYVE"] -->|"Regulates"| MCOLN1["MCOLN1"]
TFEB["TFEB"] -->|"Upregulates"| MCOLN1["MCOLN1"]
STIP1["STIP1"] -->|"Associated With"| MCOLN1["MCOLN1"]
style MCOLN1 fill:#8d4900,color:#e0e0e0
style lysosomal_hydrolytic_capacity fill:#607D8B,color:#e0e0e0
style autophagy fill:#9C27B0,color:#e0e0e0
style zinc fill:#0d47a1,color:#e0e0e0
style cancer fill:#b71c1c,color:#e0e0e0
style Amyotrophic_Lateral_Sclerosis fill:#b71c1c,color:#e0e0e0
style Neurodegeneration fill:#b71c1c,color:#e0e0e0
style Ataxia fill:#b71c1c,color:#e0e0e0
style Als fill:#b71c1c,color:#e0e0e0
style h_8ef34c4c fill:#607D8B,color:#e0e0e0
style AMPK fill:#0d47a1,color:#e0e0e0
style PIKFYVE fill:#8d4900,color:#e0e0e0
style TFEB fill:#8d4900,color:#e0e0e0
style STIP1 fill:#8d4900,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Mucolipidosis Type IV | causes | disease | 1.00 |
| Mucolipidosis Type Iv | causes | disease | 1.00 |
| TRPML1 | encodes | protein | 1.00 |
| Oncogenic Autophagy | regulates | process | 0.95 |
| Zinc Influx | mediates | process | 0.95 |
| autophagosome-lysosome fusion | associated_with | process | 0.95 |
| ribociclib-induced lung toxicity | mediates | phenotype | 0.95 |
| lysosomal hydrolytic capacity | regulates | phenotype | 0.90 |
| autophagy | regulates | pathway | 0.90 |
| zinc | regulates | protein | 0.90 |
| Autophagosome-Lysosome Fusion | inhibits | process | 0.90 |
| calcium homeostasis | regulates | process | 0.90 |
| Ribociclib-Induced Pulmonary Toxicity | mediates | phenotype | 0.90 |
| Calcium/Ampk Signaling | regulates | pathway | 0.90 |
| Malignant Melanoma | targets | disease | 0.85 |
| Pancreatic Cancer | targets | disease | 0.85 |
| Breast Cancer | targets | disease | 0.85 |
| Gastric Cancer | targets | disease | 0.85 |
| Glioma | targets | disease | 0.85 |
| cancer | treats | disease | 0.80 |
| Pancreatic Cancer | associated_with | disease | 0.80 |
| Breast Cancer | associated_with | disease | 0.80 |
| Gastric Cancer | associated_with | disease | 0.80 |
| neural stem cells | activates | cell_type | 0.80 |
| TRPML1_channel | encodes | protein | 0.80 |
| Autophagy | regulates | pathway | 0.80 |
| ULK1 | interacts_with | gene | 0.70 |
| AMPK signaling | participates_in | pathway | 0.70 |
| AUTOPHAGY | regulates | gene | 0.70 |
| RNA | activates | gene | 0.70 |
| neural stem cells | interacts_with | cell_type | 0.70 |
| ROS | activates | gene | 0.70 |
| Amyotrophic Lateral Sclerosis | associated_with | disease | 0.65 |
| Neurodegeneration | activates | disease | 0.65 |
| Ataxia | associated_with | disease | 0.65 |
| Als | associated_with | disease | 0.65 |
| Parkinson | associated_with | disease | 0.65 |
| Huntington | associated_with | disease | 0.65 |
| Neurodegeneration | associated_with | disease | 0.65 |
| Ms | regulates | disease | 0.65 |
| Als | regulates | disease | 0.65 |
| Ms | activates | disease | 0.65 |
| Tumor | activates | disease | 0.65 |
| Cancer | regulates | disease | 0.65 |
| Tumor | regulates | disease | 0.65 |
| Neuroblastoma | associated_with | disease | 0.65 |
| Glioma | therapeutic_target | disease | 0.65 |
| ALS | associated_with | disease | 0.65 |
| Spinocerebellar Ataxia | associated_with | disease | 0.65 |
| ALS | regulates | disease | 0.65 |
| Source | Relation | Type | Str |
|---|---|---|---|
| CTSB | degrades | protein | 0.90 |
| ribociclib | activates | drug | 0.90 |
| Ribociclib | activates | drug | 0.90 |
| Metformin | downregulates | drug | 0.90 |
| AMPK | activates | protein | 0.90 |
| PIKFYVE | regulates | gene | 0.90 |
| metformin | suppresses | drug | 0.90 |
| h-8ef34c4c | targets_gene | hypothesis | 0.90 |
| TFEB | upregulates | protein | 0.85 |
| Ml-Sa5 | activates | drug | 0.85 |
| Mk6-83 | activates | drug | 0.85 |
| ML-SA5 | activates | drug | 0.85 |
| MK6-83 | activates | drug | 0.85 |
| h-8ef34c4c | targets | hypothesis | 0.80 |
| CTSB | interacts_with | gene | 0.80 |
| LAMP1 | co_mentioned_with | gene | 0.80 |
| GFP | activates | gene | 0.80 |
| LGALS3 | interacts_with | gene | 0.70 |
| ATG5 | activates | gene | 0.70 |
| CTSD | activates | gene | 0.70 |
| CTSD | interacts_with | gene | 0.70 |
| LC3 | interacts_with | gene | 0.70 |
| AUTOPHAGY | regulates | gene | 0.70 |
| rapamycin | targets | drug | 0.70 |
| AMPK | interacts_with | gene | 0.70 |
| GFP | interacts_with | gene | 0.70 |
| STIP1 | associated_with | gene | 0.60 |
| LGALS3 | associated_with | gene | 0.60 |
| HSPA8 | associated_with | gene | 0.60 |
| JUN | regulates | gene | 0.60 |
| VAMP8 | associated_with | gene | 0.60 |
| ULK1 | associated_with | gene | 0.60 |
| LC3 | associated_with | gene | 0.60 |
| PPP3CB | associated_with | gene | 0.60 |
| MAP1LC3B | associated_with | gene | 0.60 |
| TFEB | associated_with | gene | 0.60 |
| MTOR | associated_with | gene | 0.60 |
| LAMP1 | associated_with | gene | 0.60 |
| TARDBP | associated_with | gene | 0.60 |
| SOD1 | associated_with | gene | 0.60 |
| BCL2 | associated_with | gene | 0.60 |
| SQSTM1 | associated_with | gene | 0.60 |
| HSPB8 | associated_with | gene | 0.60 |
| P62 | associated_with | gene | 0.60 |
| LAMP2A | associated_with | gene | 0.60 |
| PPARGC1A | associated_with | gene | 0.60 |
| STUB1 | associated_with | gene | 0.60 |
| CALCINEURIN | activates | gene | 0.60 |
| BAG3 | associated_with | gene | 0.60 |
| BECN1 | associated_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| Lysosomal Calcium Channel Modulation Therapy | 0.489 | neurodegeneration | Autophagy-lysosome pathway convergence a |
Scientific analyses that reference this entity
neurodegeneration | 2026-04-01 | 7 hypotheses Top: 0.665
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of [PMID:30335591] | Rusmini P, Cortese K, Crippa V, Cristofa | Autophagy | 2019 | 2 |
| MCOLN1/TRPML1 finely controls oncogenic autophagy in cancer by mediating zinc in [PMID:33890549] | Qi J, Xing Y, Liu Y, Wang MM, Wei X, Sui | Autophagy | 2021 | 1 |
| Mitochondria-lysosome contacts regulate mitochondrial Ca(2+) dynamics via lysoso [PMID:32703809] | Peng W, Wong YC, Krainc D | Proc Natl Acad Sci U S A | 2020 | 1 |
| Chloroquine modulates antitumor immune response by resetting tumor-associated ma [PMID:29491374] | Chen D, Xie J, Fiskesund R, Dong W, Lian | Nat Commun | 2018 | 1 |
| TRPML1: The Ca((2+))retaker of the lysosome. [PMID:28689729] | Di Paola S, Scotto-Rosato A, Medina DL | Cell Calcium | 2018 | 1 |
| TRPML1 suppresses pulmonary fibrosis by limiting collagen and elastin deposition [PMID:41714729] | Weiden EM, Serianz Z, Klingl Y, Jörs S, | The EMBO journal | 2026 | 0 |
| PAC regulates endo-, and exocytosis, and lysosomal-mitochondrial stress signalin [PMID:41559803] | Melek K, Steiner P, Kappel S, Gottschalk | Cell communication and signali | 2026 | 0 |
| A perilysosomal feedforward mechanism regulates starvation-induced calcium signa [PMID:41542926] | Giles J, Sesker A, Gonzalez M, Ferow A, | The FEBS journal | 2026 | 0 |
| Inhibition of Cathepsin B protects against vandetanib-induced hepato-cardiotoxic [PMID:41694587] | ["Wu W", "Du J", "Li J", "Zhang S", "Kan | International journal of biolo | 2026 | 0 |
| MCOLN1-mediated PPP3CB activation alleviates neuronal damage by promoting TFEB-d [PMID:41876744] | Liu SQ, Liu YY, Fu XX, Cui PR, Wang X, W | Acta pharmacologica Sinica | 2026 | 0 |
| Metformin alleviates ribociclib-induced lung injury by restoring impaired autoph [PMID:41207516] | ["Qiu Y", "Chen J", "Zhang Y", "Shu C", | Toxicology and applied pharmac | 2026 | 0 |
| The synthetic TRPML1 agonist ML-SA1 rescues Alzheimer-related alterations of the [PMID:36825945] | ["Somogyi A", "Kirkham E", "Lloyd-Evans | Journal of cell science | 2023 | 0 |
| Melatonin ameliorates cognitive deficits through improving mitophagy in a mouse [PMID:34617321] | ["Chen C", "Yang C", "Wang J", "Huang X" | Journal of pineal research | 2021 | 0 |
| Sulforaphane Activates a lysosome-dependent transcriptional program to mitigate [PMID:32138578] | ["Li D", "Shao R", "Wang N", "Zhou N", " | Autophagy | 2021 | 0 |
| ATM loss disrupts the autophagy-lysosomal pathway. [PMID:32757690] | ["Cheng A", "Tse K", "Chow H", "Gan Y", | Autophagy | 2021 | 0 |
| Pathophysiological Role of Transient Receptor Potential Mucolipin Channel 1 in C [PMID:32265740] | ["Santoni G", "Maggi F", "Amantini C", " | Frontiers in physiology | 2020 | 0 |
| Acute exercise enhances the consolidation of fear extinction memory and reduces [PMID:28716955] | ["Bouchet C", "Lloyd B", "Loetz E", "Far | Learning & memory (Cold Spring | 2017 | 0 |
| Large-scale proteomics and phosphoproteomics of urinary exosomes. [PMID:19056867] | ["Gonzales P", "Pisitkun T", "Hoffert J" | Journal of the American Societ | 2009 | 0 |