Rer1 retention in endoplasmic reticulum sorting receptor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rer1provided by MGI
Official Full Name: retention in endoplasmic reticulum sorting receptor 1provided by MGI
Primary source: MGI:MGI:1915080
See related: Ensembl:ENSMUSG00000029048 AllianceGenome:MGI:1915080
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: 1110060F11Rik; 5830454N22Rik
Summary: Enables acetylcholine receptor binding activity. Acts upstream of or within positive regulation of protein localization to plasma membrane and skeletal muscle acetylcholine-gated channel clustering. Located in cell surface and endoplasmic reticulum-Golgi intermediate compartment. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and immune system. Orthologous to human RER1 (retention in endoplasmic reticulum sorting receptor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 58.8), bladder adult (RPKM 46.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 86.17 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (155158566..155170840, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (155074109..155086371, complement)

Chromosome 4 - NC_000070.7 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?

Study in knockout mice and genetically modified human HAP1 cell line suggests that Rer1 maintains Notch signaling by maintaining sufficient expression of the gamma-secretase complex on the cell surface and regulating neural stem cell maintenance during cerebral cortex development.
Title: Rer1-mediated quality control system is required for neural stem cell maintenance during cerebral cortex development.
Rer1 controls the assembly and transport of Nav1.1 and 1.6, the principal sodium channels responsible for recurrent firing, in Purkinje cells.
Title: The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.
Rer1 is a functionally important unique factor that controls surface expression of muscle acetylcholine receptors by localizing unassembled alpha-subunits to the early secretory pathway
Title: Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunits.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Gene trapped (3) 1 citation
Targeted (3) 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 acetylcholine receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein retention in ER lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle acetylcholine-gated channel clustering	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein RER1

Names: RER1 retention in endoplasmic reticulum 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.