InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MCOLN1

Summary

InnateDB Protein

IDBP-22853.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MCOLN1

Protein Name

mucolipin 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000264079

InnateDB Gene

IDBG-22851 (MCOLN1)

Protein Structure

UniProt Annotation

Function

Cation channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. {ECO:0000269PubMed:12459486, ECO:0000269PubMed:14749347}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Disease Associations

Mucolipidosis type IV (MLIV) [MIM:252650]: 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. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews. {ECO:0000269PubMed:11030752, ECO:0000269PubMed:11317355, ECO:0000269PubMed:12182165, ECO:0000269PubMed:15523648}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in adult and fetal tissues. {ECO:0000269PubMed:10973263, ECO:0000269PubMed:11013137, ECO:0000269PubMed:11030752}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005261	cation channel activity
GO:0072345	NAADP-sensitive calcium-release channel activity

Biological Process

GO:0006812	cation transport
GO:0006879	cellular iron ion homeostasis
GO:0033572	transferrin transport
GO:0034220	ion transmembrane transport
GO:0051209	release of sequestered calcium ion into cytosol
GO:0055085	transmembrane transport
GO:0070588	calcium ion transmembrane transport

Cellular Component

GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0010008	endosome membrane
GO:0016021	integral component of membrane
GO:0031902	late endosome membrane
GO:0043235	receptor complex