Identity
HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
MG-2,ML1,ML4,MLIV,MST080,MSTP080,TRP-ML1,TRPM-L1,TRPML1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57192
MIM: 605248
HGNC: 13356
Ensembl: ENSG00000090674
Variants:
dbSNP: 57192
ClinVar: 57192
TCGA: ENSG00000090674
COSMIC: MCOLN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000090674 | ENST00000264079 | Q9GZU1 |
| ENSG00000090674 | ENST00000599334 | M0R1X7 |
| ENSG00000090674 | ENST00000601003 | M0QXD0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA446199 | Overdose | Disease | ClinicalAnnotation | associated | PD | 31362332 | |
| PA452618 | opioids | Chemical | ClinicalAnnotation | associated | PD | 31362332 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37972748 | 2024 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | 0 |
| 38141765 | 2024 | Endolysosomal TRPML1 channel regulates cancer cell migration by altering intracellular trafficking of E-cadherin and β(1)-integrin. | 2 |
| 38142951 | 2024 | Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury. | 0 |
| 38247807 | 2024 | Modulation of Cisplatin Sensitivity through TRPML1-Mediated Lysosomal Exocytosis in Ovarian Cancer Cells: A Comprehensive Metabolomic Approach. | 4 |
| 38474091 | 2024 | UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells. | 0 |
| 38899729 | 2024 | Transient receptor potential mucolipin 1 circumvents oxidative stress in primary human melanocytes. | 0 |
| 38924427 | 2024 | TRPML1 triggers ferroptosis defense and is a potential therapeutic target in AKT-hyperactivated cancer. | 1 |
| 37972748 | 2024 | Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1. | 0 |
| 38141765 | 2024 | Endolysosomal TRPML1 channel regulates cancer cell migration by altering intracellular trafficking of E-cadherin and β(1)-integrin. | 2 |
| 38142951 | 2024 | Ezrin inhibition alleviates oxidative stress and pyroptosis via regulating TRPML1-calcineurin axis mediated enhancement of autophagy in spinal cord injury. | 0 |
| 38247807 | 2024 | Modulation of Cisplatin Sensitivity through TRPML1-Mediated Lysosomal Exocytosis in Ovarian Cancer Cells: A Comprehensive Metabolomic Approach. | 4 |
| 38474091 | 2024 | UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells. | 0 |
| 38899729 | 2024 | Transient receptor potential mucolipin 1 circumvents oxidative stress in primary human melanocytes. | 0 |
| 38924427 | 2024 | TRPML1 triggers ferroptosis defense and is a potential therapeutic target in AKT-hyperactivated cancer. | 1 |
| 35879577 | 2023 | A Structural Overview of TRPML1 and the TRPML Family. | 1 |
Citation
Dessen P
MCOLN1 (mucolipin TRP cation channel 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-06-01
Online version: http://atlasgeneticsoncology.org/gene/53390/mcoln1-(mucolipin-trp-cation-channel-1)
