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: 23.18   (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: 23.18   (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: 158

Tclin

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

Active Drug: 0