Entity Details

Primary name MCOLN1
Entity type gene
Source Source Link

Details

PrimaryID57192
RefseqGeneNG_015806
SymbolMCOLN1
Namemucolipin TRP cation channel 1
Chromosome19
Location19p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-04
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMCLN1_HUMAN

GO terms

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GOName
GO:0001891 phagocytic cup
GO:0002250 adaptive immune response
GO:0005261 cation channel activity
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006812 cation transport
GO:0008289 lipid binding
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0031902 late endosome membrane
GO:0033572 transferrin transport
GO:0042995 cell projection
GO:0043231 intracellular membrane-bounded organelle
GO:0043235 receptor complex
GO:0051289 protein homotetramerization
GO:0070588 calcium ion transmembrane transport
GO:0071277 cellular response to calcium ion
GO:0071467 cellular response to pH
GO:0072345 NAADP-sensitive calcium-release channel activity
GO:0090382 phagosome maturation
GO:0097352 autophagosome maturation
GO:0097682 intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity
GO:0099604 ligand-gated calcium channel activity

Diseases

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Disease IDSourceNameDescription
252650 OMIMMucolipidosis 4 (ML4)An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
MCOLN1TRIM27BioGRID, HPRD, IntAct16169070 details
MCOLN1SLC35E1BioGRID, HPRD, IntAct16169070 details
MCOLN1APPBP2BioGRID, IntAct32296183 details
MCOLN1SEC22ABioGRID, IntAct32296183 details
MCOLN1GPR35BioGRID, MINT28298427 details
MCOLN1MCOLN1DIP29019983 30305615 details
MCOLN1MCOLN3BioGRID, IntAct26186194 28514442 details
MCOLN1CSGALNACT2BioGRID, IntAct28514442 details
MCOLN1VDAC2BioGRID31536960 details