InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MLC1

Summary

InnateDB Protein

IDBP-12767.6

Last Modified

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

Gene Symbol

MLC1

Protein Name

megalencephalic leukoencephalopathy with subcortical cysts 1

Synonyms

LVM; MLC; VL;

Species

Homo sapiens

Ensembl Protein

ENSP00000310375

InnateDB Gene

IDBG-12765 (MLC1)

Protein Structure

UniProt Annotation

Function

Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. {ECO:0000269PubMed:22328087}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell membrane {ECO:0000269PubMed:22328087}. Cytoplasm, perinuclear region {ECO:0000269PubMed:22328087}. Endoplasmic reticulum {ECO:0000269PubMed:22328087}.

Disease Associations

Leukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1) [MIM:604004]: A syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes. {ECO:0000269PubMed:11254442, ECO:0000269PubMed:11935341, ECO:0000269PubMed:12189496, ECO:0000269PubMed:16652334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. {ECO:0000269PubMed:11326298}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005515	protein binding
GO:0008565	protein transporter activity
GO:0032403	protein complex binding

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0015031	protein transport
GO:0016192	vesicle-mediated transport
GO:0032388	positive regulation of intracellular transport
GO:0047484	regulation of response to osmotic stress
GO:0051259	protein oligomerization
GO:0071397	cellular response to cholesterol
GO:0072584	caveolin-mediated endocytosis

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005768	endosome
GO:0005769	early endosome
GO:0005783	endoplasmic reticulum
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0005911	cell-cell junction
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0031410	cytoplasmic vesicle
GO:0045121	membrane raft
GO:0048471	perinuclear region of cytoplasm
GO:0055037	recycling endosome