Mlc1 modulator of VRAC current 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mlc1provided by RGD
Official Full Name: modulator of VRAC current 1provided by RGD
Primary source: RGD:1308552
See related: EnsemblRapid:ENSRNOG00000032871 AllianceGenome:RGD:1308552
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable identical protein binding activity. Involved in caveolin-mediated endocytosis; cellular response to cholesterol; and protein transport. Located in several cellular components, including caveola; endosome; and perinuclear region of cytoplasm. 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, Dec 2024]
Expression: Biased expression in Brain (RPKM 503.1) and Liver (RPKM 102.7) See more
Orthologs: human mouse all
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Genomic context

Location:: 7q34

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (121926356..121949484, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (120046705..120067049, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (129949984..129970314, complement)

Chromosome 7 - NC_086025.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.
Title: Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.
In astrocytes with reduced or increased levels of MLC1 we observe changes in the phosphorylation state of the VRAC subunit LRRC8C.
Title: GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Study discloses an important role for MLC1 in the control of astrocyte growth and in the regulation of pathways that trigger quiescent astrocytes into reactive ones in response to brain injury. It also shows that MLC1 pathological mutations cause loss of its function.
Title: Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
findings show that the membrane-associated component of MLC1 (60-64 kDa) localizes in astrocytic lipid rafts together with dystroglycan, syntrophin and caveolin-1, and co-fractionates with the dystrophin-glycoprotein complex in whole rat brain tissue
Title: Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
NOT enables monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in caveolin-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cholesterol	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in monoatomic ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in astrocyte end-foot	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
NOT located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
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 endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity 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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: membrane protein MLC1

Names: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog

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.