Edem1 ER degradation enhancer, mannosidase alpha-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Edem1provided by MGI
Official Full Name: ER degradation enhancer, mannosidase alpha-like 1provided by MGI
Primary source: MGI:MGI:2180139
See related: Ensembl:ENSMUSG00000030104 AllianceGenome:MGI:2180139
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: EDEM; mKIAA0212; A130059K23Rik
Summary: Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Involved in positive regulation of retrograde protein transport, ER to cytosol and trimming of terminal mannose on C branch. Acts upstream of or within ubiquitin-dependent ERAD pathway. Is integral component of endoplasmic reticulum membrane. Is expressed in embryo and liver. Orthologous to human EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in thymus adult (RPKM 71.9), liver adult (RPKM 21.5) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E2; 6 49.87 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (108800984..108836317)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (108824045..108859356)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Cleavage and degradation of EDEM1 promotes coxsackievirus B3 replication via ATF6a-mediated unfolded protein response signalling.
Title: Cleavage and degradation of EDEM1 promotes coxsackievirus B3 replication via ATF6a-mediated unfolded protein response signalling.
Japanese encephalitis virus replication is negatively regulated by autophagy and occurs on LC3-I- and EDEM1-containing membranes
Title: Japanese encephalitis virus replication is negatively regulated by autophagy and occurs on LC3-I- and EDEM1-containing membranes.
Data suggest Edem1/Edem2 participate in ricin translocation; overexpression of Edem2, in contrast to Edem1, promotes ricin subunit A transport from endoplasmic reticulum (ER) to cytosol; transport of ricin P250A mutant is Edem1/Edem2-independent.
Title: The role of EDEM2 compared with EDEM1 in ricin transport from the endoplasmic reticulum to the cytosol.
analysis of a shared endoplasmic reticulum-associated degradation pathway involving the EDEM1 protein for glycosylated and nonglycosylated proteins
Title: A shared endoplasmic reticulum-associated degradation pathway involving the EDEM1 protein for glycosylated and nonglycosylated proteins.
Cells with defective EDEM1 turnover contain unphysiologically high levels of EDEM1, show enhanced ER associated degradation activity and are characterized by impaired capacity to efficiently complete maturation of model glycopolypeptides.
Title: Segregation and rapid turnover of EDEM1 by an autophagy-like mechanism modulates standard ERAD and folding activities.
EDEM is involved in retrotranslocation of ricin from the ER to the cytosol.
Title: EDEM is involved in retrotranslocation of ricin from the endoplasmic reticulum to the cytosol.
role of the lectins Htm1p/EDEM in the degradation process of CFTR
Title: Cystic fibrosis transmembrane conductance regulator degradation depends on the lectins Htm1p/EDEM and the Cdc48 protein complex in yeast.
EDEM has a role in maintenance of protein folding efficiency and secretory capacity
Title: EDEM contributes to maintenance of protein folding efficiency and secretory capacity.

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Variation

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Alleles

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

Targeted (4)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124979 (e-PCR)
- UniSTS:161801

RH129325 (e-PCR)
- UniSTS:212632

NoName (e-PCR)
- UniSTS:235515

NoName (e-PCR)
- UniSTS:235516

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
NOT enables alpha-mannosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables misfolded protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within ERAD pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum mannose trimming	IBA Inferred from Biological aspect of Ancestor more info
involved_in mannoprotein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in mannose trimming involved in glycoprotein ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of retrograde protein transport, ER to cytosol	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of retrograde protein transport, ER to cytosol	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to ER	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in trimming of terminal mannose on C branch	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in aggresome	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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum quality control compartment	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ER degradation-enhancing alpha-mannosidase-like protein 1

Names: ER degradation ER degradation enhancer, mannosidase alpha-like 1; ER degradation-enhancing alpha-mannosidase-like 1

NP_619618.1

EC 3.2.1.-

XP_006505809.1

EC 3.2.1.-

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.

mRNA and Protein(s)

NM_138677.2 → NP_619618.1 ER degradation-enhancing alpha-mannosidase-like protein 1

See identical proteins and their annotated locations for NP_619618.1

Status: VALIDATED

Source sequence(s)

AB042828, AC132443, BB619976

Consensus CDS

CCDS20402.1

UniProtKB/Swiss-Prot

Q8CFM1, Q925U4

UniProtKB/TrEMBL

Q3U9S2

Related

ENSMUSP00000086565.4, ENSMUST00000089162.5

Conserved Domains (1) summary

pfam01532
Location:132 → 577

Glyco_hydro_47; Glycosyl hydrolase family 47

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

108800984..108836317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505746.5 → XP_006505809.1 ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006505809.1

UniProtKB/TrEMBL

Q8BYV2

Conserved Domains (1) summary

pfam01532
Location:1 → 387

Glyco_hydro_47; Glycosyl hydrolase family 47