MCOLN3 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of MCOLN3 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MCOLN3 at tissue level.

III. Associated gene sets

GO_0042491Biological processinner ear auditory receptor cell differentiation
GO_0070588Biological processcalcium ion transmembrane transport
GO_0035725Biological processsodium ion transmembrane transport
GO_0019722Biological processcalcium-mediated signaling
GO_0098656Biological processmonoatomic anion transmembrane transport
GO_0007626Biological processlocomotory behavior
GO_0071805Biological processpotassium ion transmembrane transport
GO_0031901Cellular componentearly endosome membrane
GO_0000421Cellular componentautophagosome membrane
GO_0031902Cellular componentlate endosome membrane
GO_0005886Cellular componentplasma membrane
GO_0005765Cellular componentlysosomal membrane
GO_0005267Molecular functionpotassium channel activity
GO_0005272Molecular functionsodium channel activity
GO_0005253Molecular functionmonoatomic anion channel activity
GO_0072345Molecular functionNAADP-sensitive calcium-release channel activity
GO_0005262Molecular functioncalcium channel activity
GO_0008289Molecular functionlipid binding

IV. Literature review

[source]
Gene nameMCOLN3
Protein nameMucolipin-3 (Transient receptor potential channel mucolipin 3) (TRPML3)
Mucolipin 3, isoform CRA_d (Mucolipin TRP cation channel 3)
Mucolipin TRP cation channel 3
MCOLN3 protein
SynonymshCG_1775160
DescriptionFUNCTION: Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as a 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 (By similarity). Involved in the regulation of autophagy . 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 . Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 . .

AccessionsB1ANB7
ENST00000370589.7 [Q8TDD5-1]
Q8TDD5
ENST00000370587.5
ENST00000490600.6
ENST00000341115.8 [Q8TDD5-2]
S4R386
Q6P9H1