MCOLN1 Gene
Mucolipin 1: A Key Regulator of Lysosomal Function and Calcium Homeostasis
Gene Information Card
| Symbol | MCOLN1 |
|---|---|
| Full Name | Mucolipin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 57192 ncbi.nlm.nih.gov/gene/57192 |
| Ensembl ID | ENSG00000090674 |
| UniProt ID | Q9GZU1 |
| OMIM ID | 605248 |
| HGNC ID | 13356 |
| Aliases | ML1, ML4, TRPML1, MSTP080, mucolipin-1 |
Description
The MCOLN1 gene encodes mucolipin 1 (also known as TRPML1), a member of the transient receptor potential (TRP) channel family. This protein functions as a non-selective cation channel primarily localized to late endosomes and lysosomes, where it mediates calcium release from these organelles. Mucolipin 1 is essential for lysosomal trafficking, autophagy, and lipid homeostasis. Mutations in MCOLN1 cause mucolipidosis type IV (MLIV), a severe autosomal recessive lysosomal storage disorder characterized by neurodegeneration, psychomotor retardation, and ophthalmological abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mucolipidosis type IV (MLIV) | Loss-of-function mutations in MCOLN1 impair lysosomal calcium release, disrupting lysosomal trafficking and autophagy, leading to accumulation of lipids and other substrates. | ClinVar, OMIM |
| Neurodegeneration (general) | Dysregulation of lysosomal calcium homeostasis via MCOLN1 mutations contributes to neuronal cell death. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 5.8 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.3 | Medium |
| Lung | 6.5 | Medium |
| Skeletal Muscle | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression |
| HeLa | 9.8 | Medium expression |
| SH-SY5Y | 11.3 | High expression |
| HepG2 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.406C>T (p.Arg136*) | Nonsense | Common in Ashkenazi Jewish population | Loss of function; premature truncation of mucolipin 1 |
| c.1204G>A (p.Gly402Arg) | Missense | Rare | Loss of function; disrupts channel activity |
| c.1610T>C (p.Leu537Pro) | Missense | Rare | Loss of function; impairs protein folding and trafficking |
Mutation functional classification
Loss of Function (LOF)
Most MCOLN1 mutations are loss-of-function, leading to reduced or absent lysosomal calcium channel activity, causing mucolipidosis type IV.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MCOLN1.
Dominant Negative (DN)
No dominant-negative mutations have been described for MCOLN1.
View complete mutation data：
Gene Ontology (GO)
| • Calcium ion transmembrane transport | • Lysosomal transport |
| • Autophagy | • Cellular response to starvation |
| • Endosome to lysosome transport | • Ion channel activity |
| • Calcium channel activity | • Lysosomal membrane |
Pathways
• Lysosomal calcium signaling
• Autophagy pathway
• mTOR signaling
Protein Summary
Mucolipin 1 (TRPML1) is a 580-amino acid protein with six transmembrane domains, forming a non-selective cation channel permeable to Ca2+, Na+, and K+. It is predominantly expressed on lysosomal and late endosomal membranes. The protein regulates lysosomal exocytosis, autophagy, and lipid trafficking. Mutations that disrupt its channel function lead to lysosomal storage and neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCOLN1 Knockout HEK293 Cell Line | EDJ-KQ1622 | Human | 57192 | Details Get a Quote |
| MCOLN1 Knockout HeLa Cell Line | EDJ-KQ18116 | Human | 57192 | Details Get a Quote |
| MCOLN1 Knockout A-549 Cell Line | EDJ-KQ21321 | Human | 57192 | Details Get a Quote |
| MCOLN1 Knockout HCT 116 Cell Line | EDJ-KQ21322 | Human | 57192 | Details Get a Quote |
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