Mreg melanoregulin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mregprovided by MGI
Official Full Name: melanoregulinprovided by MGI
Primary source: MGI:MGI:2151839
See related: Ensembl:ENSMUSG00000039395 AllianceGenome:MGI:2151839
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: dsu; Wdt2; Gm974
Summary: Enables phosphatidylinositol binding activity. Involved in melanosome localization; minus-end-directed organelle transport along microtubule; and phagosome maturation. Acts upstream of or within melanocyte differentiation and melanosome transport. Located in late endosome membrane and melanosome membrane. Part of protein-containing complex. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system; inner ear; and liver. Orthologous to human MREG (melanoregulin). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in liver adult (RPKM 12.4), placenta adult (RPKM 7.2) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C3; 1 36.39 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (72198392..72251418, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (72159233..72212314, complement)

Chromosome 1 - NC_000067.7 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
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?

Mreg contains six alpha helices forming a fishhook-like fold in which positive and negative charges occupy opposite sides of the protein's surface and sandwich a putative, cholesterol recognition sequence (CRAC motif). Mreg containing a point mutation within its CRAC motif still targets to late endosomes/lysosomes, but no longer promotes their microtubule minus end-directed transport.
Title: The Structure of Melanoregulin Reveals a Role for Cholesterol Recognition in the Protein's Ability to Promote Dynein Function.
Single membrane POS containing phagosomes recruit endogenous LC3 in an ATG5-dependent manner that is dependent on MREG. In the Mregdsu/dsu RPE, Atg5/12 and LC3 were increased relative to levels in the Mreg+/+ at all time points relative to light onset.
Title: The Contribution of Melanoregulin to Microtubule-Associated Protein 1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment Epithelium.
This study demonistrated that Loss of melanoregulin (MREG) enhances cathepsin-D secretion by the retinal pigment epithelium.
Title: Loss of melanoregulin (MREG) enhances cathepsin-D secretion by the retinal pigment epithelium.
The product of the Mreg(dsu) locus, melanoregulin (MREG), interacts both with members of BLOC-2 complex and with ocular albinism in regulating melanosome size.
Title: Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Mreg regulates microtubule-dependent retrograde melanosome transport through the dynein-dynactin motor complex.
Title: Melanoregulin regulates retrograde melanosome transport through interaction with the RILP-p150Glued complex in melanocytes.
multiple palmitoylation serves to stably anchor melanoregulin in the melanosome membrane.
Title: Melanoregulin is stably targeted to the melanosome membrane by palmitoylation.
Melanoregulin regulates a shedding mechanism that drives melanosome transfer from melanocytes to keratinocytes.
Title: Melanoregulin regulates a shedding mechanism that drives melanosome transfer from melanocytes to keratinocytes.
Results suggest that melanoregulin (MREG) is required for lysosome maturation and support a role for MREG in intracellular trafficking.
Title: Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells.
dsu identifies a unique protein involved in pigmentation of the mammalian hair
Title: dsu functions in a MYO5A-independent pathway to suppress the coat color of dilute mice.
melanoregulin regulates peripherin-2 function
Title: The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator.

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Variation

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Alleles

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

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

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within anagen	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in minus-end-directed organelle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in organelle membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: melanoregulin

Names: dilute suppressor protein; whn-dependent transcript 2

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.