Protein detail

MCLN1

Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)

Entry name MCLN1	UniProt ID Q9GZU1	EVMP confidence score 0.50
Supporting publications (n) 3	Transmembrane count 6	Protein classification Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransportersVoltage-gated ion channels

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information13

Protein Names

Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)

Protein Class (6)

Disease related genesHuman disease related genesPotential drug targetsPredicted membrane proteinsTransportersVoltage-gated ion channels

Protein Function (6)

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

Ensembl

ENSG00000090674

Entrez Gene Symbol

MCOLN1

Gene Synonym (6)

ML4MLIVMST080MSTP080TRPM-L1TRPML1

Gene Description

Mucolipin TRP cation channel 1

Chromosome

Position

7522624-7534009

Supporting publications (n)

EVMP confidence score

0.50

Fluorescence & Localization4

Tissue SpecificbrainCell SpecificAstrocytesBlood Cell SpecificbasophilBlood Lineage Specificgranulocytes

Function & Pathway7

Protein Function (6)

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 (14)

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Molecular Function (12)

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Biological Process (3)

KEGG (2)

Reactome (6)

Mediation Categories (3)

Fusion and delivery mediationMetabolism mediationReceptor-signaling mediation

Relations & Evidence41

Enzyme-Mediated Modification (3)

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:17988215 ProtMapper:17988215
MCOLN1	PRKACA	P17612	S	557	phosphorylation	PhosphoSite_MIMPMIMPSIGNORProtMapperSIGNOR_ProtMapperPhosphoSitePhosphoSite_ProtMapper	SIGNOR:17988215 ProtMapper:17988215
MCOLN1	MAPK10	P53779	T	34	phosphorylation	KEA	KEA:17570479

Ligand-Receptor Signaling (34)

34 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
ion_channel	ion_channel	Almen2009	No	Yes	No	Yes	No
transient_receptor_potential_cation	ion_channel	Almen2009	No	Yes	No	Yes	No
voltage_gated	ion_channel	Almen2009	No	Yes	No	Yes	No
voltage_gated	ion_channel	Surfaceome	No	Yes	No	Yes	No
transporter	transporter	OmniPath	No	Yes	No	Yes	No
ion_channel	ion_channel	OmniPath	No	Yes	No	Yes	No
transmembrane	transmembrane	UniProt_location	No	No	No	Yes	No
transmembrane	transmembrane	UniProt_topology	No	No	No	Yes	No
transmembrane	transmembrane	UniProt_keyword	No	No	No	Yes	No
transmembrane	transmembrane	OPM	No	No	No	Yes	No

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Regulatory Interaction Network (1)

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:17988215 ProtMapper:17988215 TRIP:17988215 PhosphoSite:17988215

Protein Complex Composition (2)

2 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
	DAGLA MCOLN1 MCOLN2 MCOLN3	Q8IZK6 Q8TDD5 Q9GZU1 Q9Y4D2	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

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationDensity Gradient CentrifugationSize Exclusion Chromatography	Mass spectrometry	4	34817906 28986585 27894104 40089067

Sequence, Structure & Domains12

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 (3)

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.

Clinical Relevance6

Disease Involvement (3)

Corneal dystrophyDisease variantMucolipidosis

Drugs

NULL

Antibody (2)

HPA031763 CAB032637

Interaction Protein

ENSG00000153898

Interaction Count

Interaction Dataset

biogrid_opencell

Supporting Publications3

PMID	Title	Abstract
24393738	Oxalate content of foods and its effect on humans.	No abstract available
33709510	Unbiased proteomic profiling of host cell extracellular vesicle composition and dynamics upon HIV-1 infection.	No abstract available
39478498	Proteomic analysis of plasma total exosomes and placenta-derived exosomes in patients with gestational diabetes mellitus in the first and second trimesters.	No abstract available