SCUBA

MCOLN1 — Mucolipin TRP cation channel 1

MCOLN1 belongs to a gene co-expression module in 2 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.

MCOLN1's module in each cell type

Cell typeModuleShares the module with
MacrophagesGolgi-Endosome Trafficking
Vesicular traficking
ACSL4, ADPGK, ARRDC3, ATXN7L3B, CLN8, DDB1, DNAJC2, ETS2 +26 moreView in SCUBA
MonocytesTissue-destructive Macrophage
Lysosomal & pahgocytosis
ACP5, ANKH, BCAT1, ENG, FABP5, ID3, IL10, KIFC3 +7 moreView in SCUBA

About the gene

SynonymsML4, MLIV, MST080, MSTP080, TRPM-L1, TRPML1
Chromosome19: 7522624-7534009
Predicted locationMembrane
Essential geneNo
Protein classDisease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Molecular functionIon channel
Biological processAdaptive immunity, Calcium transport, Immunity, Ion transport, Transport

Function

Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis. Acts as a Ca(2+)-permeable cation channel with inwardly rectifying activity. Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (By similarity). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events. By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels. Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS-induced TFEB activation and autophagy. Also functions as a Fe(2+) permeable channel in late endosomes and lysosomes. Also permeable to Mg(2+), Na(+). K(+) and Cs(+) (By similarity). Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (By similarity). May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase

Human Protein Atlas · Open Targets · UniProt

Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.