MLC1
entrez
23209
canonical
uniprot
Q15049
canonical
ensembl
ENSG00000100427
resolver
ensp
ENSP00000310375
resolver
ensp
ENSP00000379216
resolver
ensp
ENSP00000549321
resolver
ensp
ENSP00000549322
resolver
ensp
ENSP00000549324
resolver
ensp
ENSP00000549330
resolver
ensp
ENSP00000549331
resolver
ensp
ENSP00000549332
resolver
ensp
ENSP00000549333
resolver
genesymbol
MLC1
resolver
genesymbol_syn
KIAA0027
resolver
genesymbol_syn
WKL1
resolver
hgnc
HGNC:17082
resolver
uniprot
B3KW61
resolver
uniprot
B7Z2T9
resolver
uniprot
B7Z659
resolver
uniprot
Q5JZ83
resolver
uniprot
Q8TAG4
resolver
uniprot
Q96RP5
resolver
uniprot
Q9UGY8
resolver
uniprot_entry
B7Z2T9_HUMAN
resolver
uniprot_entry
MLC1_HUMAN
resolver
uniprot_sec
B3KW61
resolver
uniprot_sec
B7Z659
resolver
uniprot_sec
Q5JZ83
resolver
uniprot_sec
Q8TAG4
resolver
uniprot_sec
Q96RP5
resolver
uniprot_sec
Q9UGY8
resolver
amino_acid_sequence
MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLPPCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSRRNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATVIIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALNVDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSARLQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ
uniprot
proteins
disease_involvement
DISEASE: Megalencephalic leukoencephalopathy 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 intellectual disability. 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:0000269|PubMed:11254442, ECO:0000269|PubMed:11935341, ECO:0000269|PubMed:12189496, ECO:0000269|PubMed:16652334, ECO:0000269|PubMed:22328087}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transmembrane protein mainly expressed in brain astrocytes that may play a role in transport across the blood-brain and brain-cerebrospinal fluid barriers (PubMed:22328087). Regulates the response of astrocytes to hypo-osmosis by promoting calcium influx (PubMed:22328087). May function as regulatory protein of membrane protein complexes such as ion channels (Probable). {ECO:0000269|PubMed:22328087, ECO:0000305|PubMed:22328087}.
uniprot
proteins
mass_dalton
41141
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
11254442
uniprot
proteins
pubmed
11326298
uniprot
proteins
pubmed
11935341
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12189496
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16652334
uniprot
proteins
pubmed
22328087
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
377
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:22328087}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:22328087}. Endoplasmic reticulum {ECO:0000269|PubMed:22328087}.
uniprot
proteins
transmembrane_region
TRANSMEM 52..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 82..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 111..131; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 144..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 230..250; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 257..277; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 304..324; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins