InnateDB Protein
|
IDBP-238663.6
|
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
|
ENSP00000379216
|
InnateDB Gene
|
IDBG-12765 (MLC1)
|
Protein Structure
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
|
PFAM |
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q15049
|
PhosphoSite |
PhosphoSite-Q15049
|
TrEMBL |
B7Z2T9
|
UniProt Splice Variant |
|
Entrez Gene |
23209
|
UniGene |
Hs.627639
|
RefSeq |
NP_631941
|
HUGO |
HGNC:17082
|
OMIM |
605908
|
CCDS |
CCDS14083
|
HPRD |
05800
|
IMGT |
|
EMBL |
AF319633
AK124264
AK295106
AL022327
BC028425
CH471138
CR456460
D25217
|
GenPept |
AAH28425
AAK60119
BAA04947
BAG54023
BAH11975
CAG30346
CAI42687
EAW73490
EAW73491
|
|
|