MLC1

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.^[5][6]

MLC1
Identifiers
Aliases	MLC1, LVM, MLC, VL, megalencephalic leukoencephalopathy with subcortical cysts 1, modulator of VRAC current 1
External IDs	OMIM: 605908; MGI: 2157910; HomoloGene: 15775; GeneCards: MLC1; OMA:MLC1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.33 Start 50,059,391 bp[1] End 50,085,902 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E3 Start 88,840,087 bp[2] End 88,863,210 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nucleus accumbens ventricular zone caudate nucleus amygdala putamen right frontal lobe paraflocculus of cerebellum Brodmann area 9 anterior cingulate cortex hypothalamus Top expressed in optic nerve arcuate nucleus median eminence deep cerebellar nuclei globus pallidus paraventricular nucleus of hypothalamus dentate gyrus of hippocampal formation granule cell spermatocyte mammillary body nucleus of stria terminalis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding protein-containing complex binding Cellular component cytoplasm integral component of membrane recycling endosome endosome membrane cell-cell junction plasma membrane basolateral plasma membrane early endosome apical plasma membrane endoplasmic reticulum perinuclear region of cytoplasm caveola membrane raft lysosome cytoplasmic vesicle clathrin-coated vesicle Biological process caveolin-mediated endocytosis positive regulation of intracellular transport ion transport cellular response to cholesterol regulation of response to osmotic stress protein complex oligomerization protein transport vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23209 170790 Ensembl ENSG00000100427 ENSMUSG00000035805 UniProt Q15049 Q8VHK5 RefSeq (mRNA) NM_015166 NM_139202 NM_133241 NM_001364855 RefSeq (protein) NP_055981 NP_631941 NP_001363401 NP_001363402 NP_001363403 NP_001363404 NP_001363405 NP_001363406 NP_001363407 NP_001363408 NP_001363409 NP_001363410 NP_001363411 NP_001363412 NP_001363413 NP_573504 NP_001351784 Location (UCSC) Chr 22: 50.06 – 50.09 Mb Chr 15: 88.84 – 88.86 Mb PubMed search [3] [4]
Wikidata
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MLC1 (also called WKL1^[7][8]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).^[9] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.

Function

The function of this gene product is not known; however, homology to other proteins suggests that it may be an integral membrane transport protein.^[7] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.^[9]

The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6. Furthermore, MLC1 has highest homology with the KCNA1 shaker-related voltage-gated potassium channel (K_v1.1). This analysis suggests that MLC1 may be a cation channel.^[7]