gene

MCOLN1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

530Connections
1Hypotheses
1Analyses
50Outgoing
50Incoming

Summary

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.

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🧬 Gene Info
Gene SymbolMCOLN1
Full NameMucolipin TRP Cation Channel 1
AliasesTRPML1, ML4, MST034
Chromosome19p13.2
Protein TypeIon Channel
Target ClassIon Channel
FunctionLysosomal 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 ActionSmall molecule agonists or modulators of lysosomal calcium channel activity
DruggabilityLow (0.41)
Clinical StagePhase I
Exons14
PathwaysAutophagy, Calcium Signaling, Glycolysis, Immune Response, Oxidative Phosphorylation
UniProt IDM0QXD0
NCBI Gene ID57192
Ensembl IDENSG00000090674
OMIM605248
GeneCardsMCOLN1
Human Protein AtlasMCOLN1
Associated DiseasesALS, ALZHEIMER, Amyotrophic Lateral Sclerosis, Ataxia, BREAST CANCER
Known Drugs/CompoundsMl-Sa5, Mk6-83, ML-SA5, MK6-83, ribociclib, Ribociclib
InteractionsCALCINEURIN, ATG12, ATG10, P38, STX17, VAMP8
SciDEX TargetView Target Profile (1 clinical trials)
SciDEX HypothesesLysosomal Calcium Channel Modulation Therapy
KG Connections529 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: MCOLN1 — AlphaFold M0QXD0 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

MCOLN1 — Mucolipin-1 (TRPML1)

gene · 817 words

Autophagy Mechanisms

mechanism · 4866 words

autophagy-lysosomal-alzheimers

mechanism · 3555 words

Mitochondria-Lysosome Contact Site Dysfunction in Parkinson's Disease

mechanism · 3314 words

Autophagy-Lysosomal Pathway in Parkinson's Disease

mechanism · 3178 words

autophagy-lysosome-dysfunction

mechanism · 3147 words

Pathway Diagram

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

Outgoing (333)

TargetRelationTypeStr
Mucolipidosis Type IVcausesdisease1.00
Mucolipidosis Type Ivcausesdisease1.00
TRPML1encodesprotein1.00
Oncogenic Autophagyregulatesprocess0.95
Zinc Influxmediatesprocess0.95

Incoming (197)

SourceRelationTypeStr
CTSBdegradesprotein0.90
ribociclibactivatesdrug0.90
Ribociclibactivatesdrug0.90
Metformindownregulatesdrug0.90
AMPKactivatesprotein0.90

Targeting Hypotheses (1)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
Lysosomal Calcium Channel Modulation Therapy 0.489 neurodegeneration Autophagy-lysosome pathway convergence a

Mentioning Analyses (1)

Scientific analyses that reference this entity

Autophagy-lysosome pathway convergence across neurodegenerative diseases

neurodegeneration | 2026-04-01 | 7 hypotheses Top: 0.665

Related Papers (18)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
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