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. 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. 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. Involved in the regulation of autophagy. Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca(2+) for the fusion process. Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events. Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: Channel, cation; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 3 H2|3 71.03 cM
Cellular Component:  cell projection; cytoplasm; cytoplasmic vesicle; endosome; integral component of membrane; lysosomal membrane; membrane; plasma membrane
Molecular Function:  cation channel activity; lipid binding; NAADP-sensitive calcium-release channel activity
Biological Process:  inner ear auditory receptor cell differentiation; ion transport; locomotory behavior; sensory perception of sound
Reference #:  Q8R4F0 (UniProtKB)
Alt. Names/Synonyms: 6720490O21Rik; MCLN3; Mcoln3; MGC124245; MGC124246; mucolipin 3; Mucolipin-3; TRPML3; Va; varitint-waddler
Gene Symbols: Mcoln3
Molecular weight: 63,748 Da
Basal Isoelectric point: 6.37  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene