MCOLN1 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MCOLN1 at tissue level.

III. Associated gene sets

GO_0071467Biological processcellular response to pH
GO_0019722Biological processcalcium-mediated signaling
GO_0090382Biological processphagosome maturation
GO_0098656Biological processmonoatomic anion transmembrane transport
GO_0034755Biological processiron ion transmembrane transport
GO_0051209Biological processrelease of sequestered calcium ion into cytosol
GO_0071805Biological processpotassium ion transmembrane transport
GO_0071277Biological processcellular response to calcium ion
GO_0002250Biological processadaptive immune response
GO_1901660Biological processcalcium ion export
GO_1905673Biological processpositive regulation of lysosome organization
GO_0070588Biological processcalcium ion transmembrane transport
GO_0033572Biological processtransferrin transport
GO_0006812Biological processmonoatomic cation transport
GO_0097352Biological processautophagosome maturation
GO_0035725Biological processsodium ion transmembrane transport
GO_0051289Biological processprotein homotetramerization
GO_0031902Cellular componentlate endosome membrane
GO_0043235Cellular componentreceptor complex
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005764Cellular componentlysosome
GO_0005654Cellular componentnucleoplasm
GO_0005794Cellular componentGolgi apparatus
GO_0001891Cellular componentphagocytic cup
GO_0005770Cellular componentlate endosome
GO_0030670Cellular componentphagocytic vesicle membrane
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0042995Cellular componentcell projection
GO_0010008Cellular componentendosome membrane
GO_0005765Cellular componentlysosomal membrane
GO_0005272Molecular functionsodium channel activity
GO_0097682Molecular functionintracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity
GO_0008289Molecular functionlipid binding
GO_0072345Molecular functionNAADP-sensitive calcium-release channel activity
GO_0042802Molecular functionidentical protein binding
GO_0005261Molecular functionmonoatomic cation channel activity
GO_0099604Molecular functionligand-gated calcium channel activity
GO_0005381Molecular functioniron ion transmembrane transporter activity
GO_0005267Molecular functionpotassium channel activity
GO_0005253Molecular functionmonoatomic anion channel activity
GO_0005515Molecular functionprotein binding
GO_0005262Molecular functioncalcium channel activity

IV. Literature review

[source]
Gene nameMCOLN1
Protein nameMucolipin TRP cation channel 1
Mucolipin-1 (ML1) (MG-2) (Mucolipidin) (Transient receptor potential channel mucolipin 1) (TRPML1)
SynonymsML4
TRPML1
MSTP080
DescriptionFUNCTION: Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis . 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 . Functions as a Fe(2+) permeable channel in late endosomes and lysosomes . 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). .; FUNCTION: 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. .

AccessionsM0R1X7
ENST00000601003.1
M0QXD0
ENST00000599334.1
ENST00000264079.11
Q9GZU1