1. Gene Aliases

Mlc1, KIAA0027, MLC, LVM, VL, Megalencephalic Leukoencephalopathy With Subcortical Cysts 1, Membrane Protein MLC1, WKL1

[https://www.genecards.org/cgi-bin/carddisp.pl?gene=MLC1&keywords=Mlc1].

2. Association with Toxicity and/or Disease at a Transcriptional Level

3. Summary of Protein Family and Structure

4. Proteins Known to Interact with Gene Product

Interactions with experimental support

Interactions with text mining support

5. Links to Gene Databases

6. GO Terms, MSigDB Signatures, Pathways Containing Gene with Descriptions of Gene Sets

Pathways:

GO terms:

caveolin-mediated endocytosis [An endocytosis process that begins when material is taken up into plasma membrane caveolae, which then pinch off to form endocytic caveolar carriers. GO:0072584]

cellular response to cholesterol [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus. GO:0071397]

monoatomic ion transmembrane transport [A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom.|Note that this term is not intended for use in annotating lateral movement within membranes. GO:0034220]

positive regulation of intracellular transport [Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. GO:0032388]

protein transport [The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0015031]

regulation of response to osmotic stress [Any process that modulates the rate or extent of the response to osmotic stress. GO:0047484]

vesicle-mediated transport [A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. GO:0016192]

GO terms:

caveolin-mediated endocytosis [An endocytosis process that begins when material is taken up into plasma membrane caveolae, which then pinch off to form endocytic caveolar carriers. GO:0072584]

cellular response to cholesterol [Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholesterol stimulus. GO:0071397]

monoatomic ion transmembrane transport [A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom.|Note that this term is not intended for use in annotating lateral movement within membranes. GO:0034220]

positive regulation of intracellular transport [Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. GO:0032388]

protein transport [The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0015031]

regulation of response to osmotic stress [Any process that modulates the rate or extent of the response to osmotic stress. GO:0047484]

vesicle-mediated transport [A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. GO:0016192]

MSigDB Signatures:

CAFFAREL_RESPONSE_TO_THC_24HR_5_DN: Genes down-regulated in EVSA-T cells (breast cancer) treated with 5 micromolar THC (delta-9-tetrahydrocannabinol) [PubChem=6610319] for 24 h. [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/CAFFAREL_RESPONSE_TO_THC_24HR_5_DN.html]

KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_DN: Genes down-regulated in HL-60 cells (acute promyelocytic leukemia, APL) after treatment with the aminopeptidase inhibitor tosedostat (CHR-2797) [PubChem=15547703] for 24 h. [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_DN.html]

KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN: Genes down-regulated in HL-60 cells (acute promyelocytic leukemia, APL) after treatment with the aminopeptidase inhibitor tosedostat (CHR-2797) [PubChem=15547703] for 6 h. [https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN.html]

7. Gene Descriptions

8. Cellular Location of Gene Product

Expression in astrocytes in CNS. Localized to the cytosol. Predicted location: Membrane [https://www.proteinatlas.org/ENSG00000100427/subcellular]

9. Mechanistic Information

Summary

The MLC1 gene, encoding a membrane protein involved in cellular responses to hypo-osmosis and volume regulation, is upregulated in hepatocellular carcinoma tissues [CS: 7]. The MLC1 protein's role in regulating astrocytic response to hypo-osmosis and promoting calcium influx suggests that its increased expression in liver disease may be a cellular response to counteract osmotic imbalances caused by toxicity [CS: 5]. Moreover, MLC1's association with the Na, K-ATPase enzyme, crucial for osmotic control and volume regulation, further supports its relevance in conditions of hepatic stress [CS: 6].

10. Upstream Regulators

11. Tissues/Cell Type Where Genes are Overexpressed

12. Role of Gene in Other Tissues

13. Chemicals Known to Elicit Transcriptional Response of Biomarker in Tissue of Interest

Compounds that increase expression of the gene:

Compounds that decrease expression of the gene:

14. DisGeNet Biomarker Associations to Disease in Organ of Interest

Most relevant biomarkers with lower score or lower probability of association with disease or organ of interest: