| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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"; GENE SYNONYMS:MLC1 KIAA0027 WKL1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 377 AA; 41141 MW; 9AF70B87D979F459 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:17082,
urn:biopax:RelationshipXref:NCBI GENE_23209,
urn:biopax:RelationshipXref:REFSEQ_NP_055981,
urn:biopax:RelationshipXref:REFSEQ_NP_631941,
urn:biopax:UnificationXref:UNIPROT_B3KW61,
urn:biopax:UnificationXref:UNIPROT_Q15049,
urn:biopax:UnificationXref:UNIPROT_Q5JZ83,
urn:biopax:UnificationXref:UNIPROT_Q8TAG4,
urn:biopax:UnificationXref:UNIPROT_Q96RP5,
urn:biopax:UnificationXref:UNIPROT_Q9UGY8
|
| biopax3:displayName |
MLC1_HUMAN
|
| biopax3:name |
MLC1
|
| biopax3:organism | |
| biopax3:sequence |
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ
|
| biopax3:standardName |
Membrane protein MLC1
|