Tchem MCOLN3 Mucolipin-3

Protein Summary

Description

Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca(2+) from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151). This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Uniprot Accession IDs

• Q8TDD5
• Q5T4H5
• Q5T4H6
• Q9NV09

Gene Name

• MCOLN3

Ensembl ID

• ENST00000341115
• ENSP00000342698
• ENSG00000055732
• ENST00000370589
• ENSP00000359621

Symbol

• TRPML3
• TRP-ML3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.74
histone modification site profile	0.61
PubMedID	0.61
tissue sample	0.56
transcription factor perturbation	0.54

Protein Classes

PANTHER Classes

Protein / Transporter / Ion Channel / Mucolipin-3

DTO Classes

Protein / Ion Channel / Transient Receptor Potential Calcium Channel (Trp-cc) Family / Polycystin Subfamily / Mcoln3 Sub-subfamily / Mucolipin-3

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 30.94   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 129   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 30.94   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 129   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 153

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

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No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (153)

Explore Active Ligands

1 – 10 of 153

butaclamol

MCOLN3Tchem IC

pKi : 8.37

Gd³⁺

MCOLN3Tchem IC

pEC50 : 7

arecoline

MCOLN3Tchem IC

pKi : 7.4

SID17414375

MCOLN3Tchem IC

pIC50 : 7.05

SF-22

MCOLN3Tchem IC

-log(-) : 6.3

SF-51

MCOLN3Tchem IC

pEC50 : 5.84

SID17410437

MCOLN3Tchem IC

pAC50 : 6.3

SID17387610

MCOLN3Tchem IC

pAC50 : 6.2

SF-11

MCOLN3Tchem IC

pEC50 : 6.6

SF-21

MCOLN3Tchem IC

pEC50 : 6.35

Protein-Protein Interactions (87)

Explore Interacting Targets

1 – 10 of 87

• See Interactions on String-DB

MCOLN1

Tchem

Family:  IC

Novelty:  0.00442768

p_int:  0.999999167

p_ni:  7.87e-7

p_wrong:  4.6e-8

Score:  0.22

Data Source:  BioPlex,STRINGDB

KCNQ5

Tclin

Family:  IC

Novelty:  0.01271842

p_int:  0.99984049

p_ni:  0.000110584

p_wrong:  0.000048926

Score:  0.184

Data Source:  BioPlex,STRINGDB

ATP13A2

Tbio

Family:  Transporter

Novelty:  0.00623191

p_int:  0.999695385

p_ni:  0.000304615

Data Source:  BioPlex

DAGLA

Tchem

Family:  Enzyme

Novelty:  0.00959313

p_int:  0.999638721

p_ni:  0.00000454

p_wrong:  0.000356739

Score:  0.188

Data Source:  BioPlex,STRINGDB

GABRB3

Tclin

Family:  IC

Novelty:  0.00485997

p_int:  0.999536364

p_ni:  0.000454116

p_wrong:  0.000009519

Score:  0.177

Data Source:  BioPlex,STRINGDB

TMEM59L

Tbio

Novelty:  0.22745646

p_int:  0.999398756

p_ni:  0.000576239

p_wrong:  0.000025005

Data Source:  BioPlex

TUSC3

Tbio

Novelty:  0.01388722

p_int:  0.999361562

p_ni:  0.000638435

p_wrong:  3e-9

Data Source:  BioPlex

COA1

Tbio

Family:  Enzyme

Novelty:  0.49194068

p_int:  0.999062471

p_ni:  0.000937513

p_wrong:  1.6e-8

Data Source:  BioPlex

ATP2A3

Tchem

Family:  Transporter

Novelty:  0.0090982

p_int:  0.998287534

p_ni:  0.001712466

Data Source:  BioPlex

ABHD16A

Tchem

Family:  Enzyme

Novelty:  0.04797219

p_int:  0.996462887

p_ni:  0.000220048

p_wrong:  0.003317065

Score:  0.177

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (4)

Reactome (4)

Ion channel transport (R-HSA-983712)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Ion channel transport	179 targets	R-HSA-983712
Reactome	Stimuli-sensing channels	102 targets	R-HSA-2672351
Reactome	TRP channels	25 targets	R-HSA-3295583
Reactome	Transport of small molecules	725 targets	R-HSA-382551

Name	Explore in Pharos	Explore in Source
Ion channel transport	179 targets	R-HSA-983712
Stimuli-sensing channels	102 targets	R-HSA-2672351
TRP channels	25 targets	R-HSA-3295583
Transport of small molecules	725 targets	R-HSA-382551

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (12)

Functions (3)

Components (6)

Processes (3)

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Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
NAADP-sensitive calcium-release channel activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
calcium channel activity	Traceable Author Statement (TAS)	Reactome
lipid binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations (null)

No disease associations found

GWAS Traits (1)

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5

1 – 1 of 1

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
hair color	EFO_0003924	1	1	0	1.1	40.7

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 1 of 1

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
hair color	EFO_0003924	0	1.1	40.7

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Cell membrane
Complete proteome
Cytoplasmic vesicle
Disulfide bond
Endosome
Glycoprotein
Ion channel
Ion transport

GWAS Trait Find Similar Targets

No Header	No Header
hair color

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
integument phenotype
limbs/digits/tail phenotype
mortality/aging
nervous system phenotype
pigmentation phenotype
reproductive system phenotype

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	mucolipin 3		710987
Mouse	mucolipin 3	MGI:1890500	171166
Rat	mucolipin 3	RGD:1308420	308022
Horse	mucolipin 3	VGNC:20043	100064441
Cow	mucolipin 3	VGNC:31320	514345

Species	Name	OMA	EggNOG	Inparanoid
Macaque	mucolipin 3
Mouse	mucolipin 3
Rat	mucolipin 3
Horse	mucolipin 3
Cow	mucolipin 3

Publication Statistics

PubMed Score 30.94

PubMed score by year

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PubTator Score 19.46

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Patents

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Related Publications

Text Mined References (22)

GeneRif Annotations (13)

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PMID	Year	Title