Entity Details

Primary name MCLN1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9GZU1
EntryNameMCLN1_HUMAN
FullNameMucolipin-1
TaxID9606
Evidenceevidence at protein level
Length580
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesMCOLN1

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

Subcellular Location

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Subcellular Location
Cell membrane
Cell projection
Cytoplasmic vesicle
Cytoplasmic vesicle membrane
Late endosome membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR013122 Polycystin cation channel, PKD1/PKD2DomainDomain
IPR039031 MucolipinFamilyFamily

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

6 interactions