ID:MLC1_HUMAN DESCRIPTION: RecName: Full=Membrane protein MLC1; FUNCTION: Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx. SUBUNIT: Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum. TISSUE SPECIFICITY: Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus. DISEASE: Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts type 1 (MLC1) [MIM:604004]. MLC1 is 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. SEQUENCE CAUTION: Sequence=BAA04947.3; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLC1"; WEB RESOURCE: Name=Mendelian genes megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/MLC1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q15049
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0008565 protein transporter activity GO:0044877 macromolecular complex binding
Biological Process: 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
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
