Mlc1 - megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) Gene
Also Known as VL; LVM; MLC; WKL1; Kiaa0027-hp
Species: Mus musculus
Summary
Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including caveolin-mediated endocytosis; cellular response to cholesterol; and regulation of response to osmotic stress. Predicted to act upstream of or within ion transport. Located in several cellular components, including apical plasma membrane; astrocyte end-foot; and cell-cell junction. Is expressed in several structures, including central nervous system; eye; gut; and male reproductive gland or organ. Used to study megalencephalic leukoencephalopathy with subcortical cysts 1. Human ortholog(s) of this gene implicated in megalencephalic leukoencephalopathy with subcortical cysts 1. Orthologous to human MLC1 (modulator of VRAC current 1). [provided by Alliance of Genome Resources, Apr 2022]
Mlc1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001364855.1 | NP_001351784.1 | membrane protein MLC1 isoform 2 |
| NM_133241.2 | NP_573504.1 | membrane protein MLC1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| NOT enables monoatomic ion channel activity |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21419380 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| NOT involved in monoatomic ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| located in astrocyte end-foot |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| located in cell-cell junction |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
15367490 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
membrane protein MLC1 |
|