Protein detail
MCLN1
Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
Protein symbol MCLN1 | UniProt ID | EVMP score 0.50 |
Frequency 3 | Transmembrane count 6 | Protein classification Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransportersVoltage-gated ion channels |
Basic Information
Protein Names
Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
Protein Class
Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransportersVoltage-gated ion channels
Protein Function
- Voltage-gated ion channels:Transient Receptor Potential Channels
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of lipid/glycolipid metabolism
- Potential drug targets
- Transporters:Transporter channels and pores
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases
Transmembrane
66..86; Helical; Name=1; 299..321; Helical; Name=2; 351..371; Helical; Name=3; 383..405; Helical; Name=4; 428..448; Helical; Name=5; 492..513; Helical; Name=6
Transmembrane Count
6
Ensembl
Entrez Gene Symbol
Gene Synonym
ML4MLIVMST080MSTP080TRPM-L1TRPML1
Gene Description
Mucolipin TRP cation channel 1
Chromosome
19
Position
7522624-7534009
Frequency
3
EVMP Score
0.50
Fluorescence & Localization
Tissue SpecificbrainCell SpecificAstrocytesBlood Cell SpecificbasophilBlood Lineage Specificgranulocytes
Function & Pathway
Protein Function
- Voltage-gated ion channels:Transient Receptor Potential Channels
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of lipid/glycolipid metabolism
- Potential drug targets
- Transporters:Transporter channels and pores
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Lysosomal storage diseases
Cellular Component
- GO:0001891 phagocytic cup
- GO:0005654 nucleoplasm
- GO:0005764 lysosome
- GO:0005765 lysosomal membrane
- GO:0005770 late endosome
- GO:0005794 Golgi apparatus
- GO:0005886 plasma membrane
- GO:0010008 endosome membrane
- GO:0016020 membrane
- GO:0030670 phagocytic vesicle membrane
- GO:0031902 late endosome membrane
- GO:0042995 cell projection
- GO:0043231 intracellular membrane-bounded organelle
- GO:0043235 receptor complex
Molecular Function
- GO:0005253 monoatomic anion channel activity
- GO:0005261 monoatomic cation channel activity
- GO:0005262 calcium channel activity
- GO:0005267 potassium channel activity
- GO:0005272 sodium channel activity
- GO:0005381 iron ion transmembrane transporter activity
- GO:0005515 protein binding
- GO:0008289 lipid binding
- GO:0042802 identical protein binding
- GO:0072345 NAADP-sensitive calcium-release channel activity
- GO:0097682 intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity
- GO:0099604 ligand-gated calcium channel activity
Biological Process
Reactome
Mediation Categories
Fusion and delivery mediationMetabolism mediationReceptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
3 records.
| Substrate Gene Symbol | Enzyme Gene Symbol | Enzyme UniProt ID | Residue Type | Residue Offset | Modification | Database | References |
|---|---|---|---|---|---|---|---|
| MCOLN1 | PRKACA | P17612 | S | 559 | phosphorylation | PhosphoSite_MIMPMIMPSIGNORProtMapperSIGNOR_ProtMapperPhosphoSitePhosphoSite_ProtMapper | SIGNOR:17988215ProtMapper:17988215 |
| MCOLN1 | PRKACA | P17612 | S | 557 | phosphorylation | PhosphoSite_MIMPMIMPSIGNORProtMapperSIGNOR_ProtMapperPhosphoSitePhosphoSite_ProtMapper | SIGNOR:17988215ProtMapper:17988215 |
| MCOLN1 | MAPK10 | P53779 | T | 34 | phosphorylation | KEA | KEA:17570479 |
Ligand-Receptor Signaling
34 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| receptor | receptor | OmniPath | No | Yes | No | Yes | No |
| extracellular | extracellular | OmniPath | No | No | No | Yes | No |
| intracellular | intracellular | LOCATE | No | No | No | Yes | No |
| intracellular | intracellular | ComPPI | No | No | No | Yes | No |
| intracellular | intracellular | GO_Intercell | No | No | No | Yes | No |
| intracellular | intracellular | UniProt_location | No | No | No | Yes | No |
| intracellular | intracellular | OmniPath | No | No | No | Yes | No |
| trp_channels | transporter | Surfaceome | No | Yes | No | Yes | No |
| channels | transporter | Surfaceome | No | Yes | No | Yes | No |
| ion_channel | ion_channel | DGIdb | No | Yes | No | Yes | No |
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Regulatory Interaction Network
1 record.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| KAPCA | P17612 | MCLN1 | Q9GZU1 | Yes | No | Yes | PhosphoSite_MIMPMIMPPhosphoSite_norefSIGNORTRIPProtMapperiPTMnetSIGNOR_ProtMapperPhosphoSitePhosphoSite_ProtMapper | SIGNOR:17988215ProtMapper:17988215TRIP:17988215PhosphoSite:17988215 |
Protein Complex Composition
2 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| DAGLAMCOLN1MCOLN2MCOLN3 | Q8IZK6Q8TDD5Q9GZU1Q9Y4D2 | 0:0:0:0 | hu.MAP | |||
| MCOLN1 | Q9GZU1 | 4 | PDB | PDB:9hl8PDB:6e7zPDB:6e7pPDB:9hl4PDB:9hj6PDB:9ektPDB:9eksPDB:9hlcPDB:9hlbPDB:9ekvPDB:9hj8PDB:9hl6PDB:9hlaPDB:7mglPDB:5wj9PDB:9hldPDB:9hl3PDB:6e7yPDB:5wj5PDB:9eku |
Sequence, Structure & Domains
Sequences
Length
580
Mass
65,022
Sequence
MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN
3D Structural Models
Turn
114..116; 448..450; 468..470; 482..486
Helix
41..49; 52..58; 84..105; 122..137; 139..142; 177..179; 218..220; 225..227; 242..247; 291..293; 295..337; 346..349; 353..377; 383..399; 402..405; 409..447; 452..454; 457..467; 473..481; 488..507; 510..524
Beta Strand
143..145; 148..151; 154..156; 162..176; 181..195; 228..241; 252..263; 271..282
3D Structure
Electron microscopy (16); X-ray crystallography (3)
Domain & Motif Annotations
Motif
11..16; Dileucine motif; mediates targeting to lysosomes; 469..474; Selectivity filter; 573..578; Dileucine internalization motif; mediates AP2 complex-dependent internalization
Domain (CC)
The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.
Region
1..38; Disordered; 42..62; Interaction with phosphoinositides; 107..121; Extracellular/lumenal pore loop; 565..567; Required for palmitoylation and association with membranes
Protein Families
- Transient receptor (TC 1.A.4) family
- Polycystin subfamily
- MCOLN1 sub-subfamily
Sequence Similarities
Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily.