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

Gene ID: 192193, updated on 11-Apr-2024

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
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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_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1705 Neighboring gene STARR-seq mESC enhancer starr_16978 Neighboring gene predicted gene, 35359 Neighboring gene STARR-positive B cell enhancer ABC_E8121 Neighboring gene STARR-positive B cell enhancer ABC_E6466 Neighboring gene ADP-ribosylation factor-like 8B Neighboring gene predicted gene, 51409 Neighboring gene predicted gene, 35417 Neighboring gene STARR-positive B cell enhancer mm9_chr6:108775076-108775377 Neighboring gene STARR-positive B cell enhancer ABC_E3668 Neighboring gene STARR-positive B cell enhancer ABC_E3669 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108785919-108786120 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108786185-108786368 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108789575-108789776 Neighboring gene predicted pseudogene 6749 Neighboring gene predicted gene, 53302

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (4) 
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0212

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 
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

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
XP_006505809.1

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)

  1. NM_138677.2NP_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:132577
    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

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    108800984..108836317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505746.5XP_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:1387
    Glyco_hydro_47; Glycosyl hydrolase family 47

RNA

  1. XR_001785109.3 RNA Sequence