Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mlc1provided by MGI
Official Full Name: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)provided by MGI
Primary source: MGI:MGI:2157910
See related: Ensembl:ENSMUSG00000035805 AllianceGenome:MGI:2157910
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: VL; LVM; MLC; WKL1; Kiaa0027-hp
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. Located in several cellular components, including apical plasma membrane; astrocyte end-foot; and cell-cell junction. Is expressed in several structures, including brain; eye; gut; male reproductive gland or organ; and spinal cord. 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, Oct 2024]
Expression: Biased expression in frontal lobe adult (RPKM 39.9), cortex adult (RPKM 36.9) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 44.46 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (88840087..88863192, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (88955884..88982693, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
Title: Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
A novel role for MLC1 in regulating astrocyte-synapse interactions.
Title: A novel role for MLC1 in regulating astrocyte-synapse interactions.
Mlc1-Expressing Perivascular Astrocytes Promote Blood-Brain Barrier Integrity.
Title: Mlc1-Expressing Perivascular Astrocytes Promote Blood-Brain Barrier Integrity.
The Mlc1 Promoter Directs Muller Cell-specific Gene Expression in the Retina.
Title: The Mlc1 Promoter Directs Müller Cell-specific Gene Expression in the Retina.
MLC1 contributes to restore astrocyte homeostasis after inflammation.
Title: Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
we examined the cerebellum of Mlc1-over-expressing mouse and found that the distribution of Bergmann glia was normally compacted along the Purkinje cell layer until postnatal day 10
Title: Ectopic positioning of Bergmann glia and impaired cerebellar wiring in Mlc1-over-expressing mice.
Disturbed astrocyte regulation of ion and water homeostasis in MLC causes hyperexcitability of neuronal networks and seizures
Title: Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
Mlc1 overexpression reduced activity of the astrocytic sodium pump, which may underlie white matter edema followed by myelin membrane splitting
Title: Astrocyte-mediated infantile-onset leukoencephalopathy mouse model.
we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype.
Title: Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
This study demonistrated that Mlc1-null mice replicate the human with megalencephalic leukoencephalopathy with cysts.
Title: Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
NOT enables monoatomic ion channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in caveolin-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cholesterol	ISO Inferred from Sequence Orthology more info
NOT involved_in monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of intracellular transport	ISO Inferred from Sequence Orthology more info
involved_in protein transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of response to osmotic stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of response to osmotic stress	ISO Inferred from Sequence Orthology more info
involved_in vesicle-mediated transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in astrocyte end-foot	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in caveola	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: membrane protein MLC1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.