Molecular Target Synopsis
Overview
Domains and Structures
Drugs and Clinical Candidates
Druggability
Chemistry
Ligand Efficiency Plot
Pathways
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
RNAi
Mutations
Germline Genetics

MCOLN3 (Q8TDD5) - Overview - Molecular Target Synopsis

Protein


MCOLN3, Mucolipin-3
UniProt Q8TDD5

Also Known as MCLN3_HUMAN, MCOLN3

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). Homotetramer (PubMed:29106414). Can heterooligomerize with MCOLN1; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific (PubMed:19885840). May heterooligomerize with TRPV5 to form a functional distinct ion channel (PubMed:23469151). Interacts with GABARAPL2 (By similarity).

6AYE
HUMAN APO-TRPML3 CHANNEL AT PH 7.4
RCSB/PDB
Inspect Structure
See all 3D Structures for MCOLN3

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: MCOLN3 is active in the following subcellular-locations: autophagosome membrane, cell membrane, cytoplasmic vesicle, early endosome membrane, late endosome membrane, lysosome membrane.
GO terms: MCOLN3 is active in the following subcellular-locations: autophagosome membrane, early endosome membrane, integral component of membrane, late endosome membrane, lysosomal membrane, plasma membrane.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project MCOLN3 has gain in 5 cell-lines, loss in 1 cell-lines and no signal in 999 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are: M14, SK_MEL_28, MDA_N

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: COLO-783, RERF-LC-KJ, NCI-H345

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: MCF-7, SK-N-SH, HSMM

(see details)

3D Structures


For MCOLN3 there are:
3 structures (12 chains) solved
1 are solved in complex with at least one small molecule ligand



(see details)
Molecular Target 3D Synopsis

Screening and Chemistry


MCOLN3 has been screened with 264 compounds (270 bioactivities), 4 compounds have bioactivities that show binding affinity of <= 500nM (5 bioactivities). (see details)