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EDEM1 Gene

protein-coding   GIFtS: 60
GCID: GC03P005203

ER Degradation Enhancer, Mannosidase Alpha-Like 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ER Degradation Enhancer, Mannosidase Alpha-Like 11 2
EDEM2 3 5
KIAA02123 5
ER Degradation-Enhancing Alpha-Mannosidase-Like 12
ER Degradation-Enhancing Alpha-Mannosidase-Like Protein 12

External Ids:    HGNC: 189671   Entrez Gene: 96952   Ensembl: ENSG000001341097   OMIM: 6076735   UniProtKB: Q926113   

Export aliases for EDEM1 gene to outside databases

Previous GC identifers: GC03P005221 GC03P005204


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for EDEM1 Gene:
EDEM1 (ER degradation enhancer, mannosidase alpha-like 1) is a protein-coding gene. GO annotations related to this gene include misfolded protein binding and calcium ion binding. An important paralog of this gene is EDEM2.

UniProtKB/Swiss-Prot: EDEM1_HUMAN, Q92611
Function: Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin
cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded
glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It
lacks mannosidase activity

Gene Wiki entry for EDEM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EDEM1 gene promoter:
         SRF   Brachyury   SRF (504 AA)   AP-2gamma   Evi-1   GATA-1   FOXL1   POU2F1   POU2F1a   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEDEM1 promoter sequence
   Search Chromatin IP Primers for EDEM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDEM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p26.1   Ensembl cytogenetic band:  3p26.1   HGNC cytogenetic band: 3p26.1

EDEM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDEM1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P005203:  view genomic region     (about GC identifiers)

Start:
5,229,331 bp from pter      End:
5,261,650 bp from pter
Size:
32,320 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EDEM1_HUMAN, Q92611 (See protein sequence)
Recommended Name: ER degradation-enhancing alpha-mannosidase-like protein 1  
Size: 657 amino acids; 73768 Da
Subunit: Interacts with DNAJC10 (By similarity). Interacts with DERL2 and DERL3. Binds to SEL1L
Sequence caution: Sequence=BAA13203.2; Type=Erroneous initiation;
Secondary accessions: A8K9C8

Explore the universe of human proteins at neXtProt for EDEM1: NX_Q92611

Explore proteomics data for EDEM1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys245, Lys279, Lys334, Lys570, Lys596
  • Glycosylation2 at Asn181, Asn198, Asn299, Asn342, Asn624
  • Modification sites at PhosphoSitePlus

  • See EDEM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055489.1  
    ENSEMBL proteins: 
     ENSP00000393659   ENSP00000256497   ENSP00000394615   ENSP00000394099  
    Reactome Protein details: Q92611

    EDEM1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for EDEM1
    OriGene Custom MassSpec
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    Novus Biologicals EDEM1 Protein
    Novus Biologicals EDEM1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EDEM1

     
    Search eBioscience for Proteins for EDEM1 

     
    antibodies-online proteins for EDEM1 (4 products) 

     
    antibodies-online peptides for EDEM1

    EDEM1 Antibody Products:

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    antibodies-online antibodies for EDEM1 (9 products) 

    EDEM1 Assay Products:

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    Cloud-Clone Corp. ELISAs for EDEM1
    Cloud-Clone Corp. CLIAs for EDEM1
    Search eBioscience for ELISAs for EDEM1 
    antibodies-online kits for EDEM1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001382 Glyco_hydro_47

    Graphical View of Domain Structure for InterPro Entry Q92611

    ProtoNet protein and cluster: Q92611

    1 Blocks protein domain: IPB001382 Glycosyl hydrolase family 47 signature

    UniProtKB/Swiss-Prot: EDEM1_HUMAN, Q92611
    Similarity: Belongs to the glycosyl hydrolase 47 family


    Find genes that share domains with EDEM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDEM1_HUMAN, Q92611
    Function: Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin
    cycle. It is directly involved in endoplasmic reticulum-associated degradation (ERAD) and targets misfolded
    glycoproteins for degradation in an N-glycan-independent manner, probably by forming a complex with SEL1L. It
    lacks mannosidase activity

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004571NOT mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IDA12610306
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16449189
    GO:0051787misfolded protein binding IDA19524542
         
    Find genes that share ontologies with EDEM1           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Edem1 (no phenotypes)

    Find genes that share phenotypes with EDEM1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Edem1tm1Lex for EDEM1

       genOway: Develop your customized and physiologically relevant rodent model for EDEM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EDEM1:
    hsa-mir-100-5p (MIRT048443), hsa-mir-335-5p (MIRT018268), hsa-mir-96-5p (MIRT048731), hsa-mir-32-5p (MIRT028385), hsa-mir-204-5p (MIRT005824), hsa-mir-125b-5p (MIRT046054)

    Block miRNA regulation of human, mouse, rat EDEM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EDEM1 (see all 66):
    hsa-miR-549 hsa-miR-323-3p hsa-miR-1224-3p hsa-miR-200a hsa-miR-629* hsa-miR-3613-3p hsa-miR-92b hsa-miR-32
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EDEM1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: EDEM1 (NM_014674)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDEM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDEM1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDEM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EDEM1_HUMAN, Q92611: Endoplasmic reticulum membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol1
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane ISS--

    Find genes that share ontologies with EDEM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EDEM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Calnexin/calreticulin cycle0.00
    Post-translational protein modification0.43
    N-glycan trimming in the ER and Calnexin/Calreticulin cycle0.00
    Metabolism of proteins0.30
    ER Quality Control Compartment (ERQC)0.00
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    3Mechanisms of CFTR activation by S nitrosoglutathione normal and CF
    CFTR folding and maturation norm and CF 0.37
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum


    Find genes that share SuperPaths with EDEM1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for EDEM1
        CFTR folding and maturation (norm and CF)

    2 Reactome Pathways for EDEM1
        XBP1(S) activates chaperone genes
    ER Quality Control Compartment (ERQC)


    1 Kegg Pathway  (Kegg details for EDEM1):
        Protein processing in endoplasmic reticulum

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDEM1: 
              Glycosylation in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EDEM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EDEM1 (Q926111, 2, 3 ENSP000002564974) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SSR1P433072, 3, ENSP000002447634MINT-4546760 I2D: score=1 STRING: ENSP00000244763
    BZW1Q7L1Q61, 3, ENSP000003943164EBI-1056336,EBI-1046727 I2D: score=2 STRING: ENSP00000394316
    HSPA5P110213, ENSP000003241734I2D: score=1 STRING: ENSP00000324173
    CANXP278243, ENSP000002474614I2D: score=3 STRING: ENSP00000247461
    SEL1LQ9UBV23, ENSP000003370534I2D: score=1 STRING: ENSP00000337053
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030433ER-associated ubiquitin-dependent protein catabolic process ISS--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--

    Find genes that share ontologies with EDEM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EDEM1

    1 Novoseek inferred chemical compound relationship for EDEM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 60.7 2 19934218 (1)



    Find genes that share compounds with EDEM1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EDEM1 gene: 
    NM_014674.2  

    Unigene Cluster for EDEM1:

    ER degradation enhancer, mannosidase alpha-like 1
    Hs.224616  [show with all ESTs]
    Unigene Representative Sequence: NM_014674
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434243 ENST00000256497(uc011asz.1 uc003bqi.3) ENST00000465369
    ENST00000443790 ENST00000465187 ENST00000445686(uc021wsl.1) ENST00000492751

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EDEM1 (see all 66):
    hsa-miR-549 hsa-miR-323-3p hsa-miR-1224-3p hsa-miR-200a hsa-miR-629* hsa-miR-3613-3p hsa-miR-92b hsa-miR-32
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EDEM1
      QuantiFast Probe-based Assays in human, mouse, rat EDEM1

    Additional mRNA sequence: 

    AK292643.1 AK298511.1 AK302065.1 BC019088.1 D86967.1 

    11 DOTS entries:

    DT.95370360  DT.120888966  DT.99938746  DT.100785750  DT.120888904  DT.120888929  DT.92045737  DT.95365988 
    DT.120888884  DT.91878434  DT.92462892 

    Selected AceView cDNA sequences (see all 152):

    BF511061 AA290653 AA369222 CR621147 BG255753 BC019088 AA250852 CB135001 
    BX352520 BG057331 BU623214 AA287304 CK904356 AI142424 CD246059 BM542988 
    BU618490 BE046428 BU621704 N32546 AA885205 CR597249 CA431686 AA258630 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EDEM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGACATTCCT
    EDEM1 Expression
    About this image


    EDEM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    EDEM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EDEM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.224616
        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDEM1: 
              Glycosylation in human mouse rat
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for EDEM1
    OriGene qSTAR qPCR primer pairs in human, mouse for EDEM1
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    QuantiFast Probe-based Assays in human, mouse, rat EDEM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDEM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EDEM1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edem11 , 5 ER degradation enhancer, mannosidase alpha-like 11, 5 88.44(n)1
    93.84(a)1
      6 (49.87 cM)5
    1921931  NM_138677.21  NP_619618.11 
     1088286415 
    chicken
    (Gallus gallus)
    Aves EDEM11 ER degradation enhancer, mannosidase alpha-like 1 78.05(n)
    84.07(a)
      416110  NM_001006143.1  NP_001006143.1 
    lizard
    (Anolis carolinensis)
    Reptilia EDEM16
    ER degradation enhancer, mannosidase alpha-like 1
    83(a)
    1 ↔ 1
    2(172871821-172896855)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA972604.12   -- 77.6(n)    CA972604.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558162 similar to ER degradation enhancing alpha mannosidase-like 75.86(n)   394164  BC045461.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C47E12.31 C47E12.3 56.12(n)
    59.72(a)
      177857  NM_069401.4  NP_501802.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MNL1(YHR204W)4 Alpha-1,2-specific exomannosidase of the endoplasmic more   --   8(506319-508709) 856611  NP_012074.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G275201 AT1G27520 51.99(n)
    46.86(a)
      839643  NM_102516.3  NP_564288.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g07413001 Os02g0741300 50.63(n)
    45.19(a)
      4330685  NM_001054615.1  NP_001048080.1 


    ENSEMBL Gene Tree for EDEM1 (if available)
    TreeFam Gene Tree for EDEM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EDEM1 gene
    EDEM22  EDEM32  
    3 SIMAP similar genes for EDEM1 using alignment to 4 protein entries:     EDEM1_HUMAN (see all proteins):
    EDEM3    EDEM2    MAN1B1

    Find genes that share paralogs with EDEM1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for EDEM1
    PGOHUM00000248769


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EDEM1 (see all 905)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006918051,2
    C--5227496(+) GGCTTG/TTGGAA 1 -- us2k10--------
    rs1155785541,2
    F--5227522(+) TCTATG/AAAGAT 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs67658981,2
    C,F,A,H--5227663(+) GACAGG/AAGCTG 1 -- us2k121Minor allele frequency- A:0.43NS EA NA WA CSA 2342
    rs1482087851,2
    --5227786(+) GTTCCA/TGGAAG 1 -- us2k10--------
    rs752146601,2
    F--5227880(+) GTGTAG/ATCTAA 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1412663781,2
    --5227909(+) TCTTCA/GTAATC 1 -- us2k10--------
    rs795601621,2
    C,F--5228029(+) TTTCTT/CAGTTC 1 -- us2k12Minor allele frequency- C:0.05NA WA 122
    rs1507637191,2
    --5228542(+) CCCCCC/TCTTTT 1 -- us2k10--------
    rs1147988301,2
    F--5228607(+) AAACTT/ACCAGT 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1391371541,2
    --5228691(+) GGATCA/TGGGGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for EDEM1 (5229331 - 5261650 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for EDEM1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EDEM1
    DNA2.0 Custom Variant and Variant Library Synthesis for EDEM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607673    OMIM disorders: --


    Find genes that share disorders with EDEM1           About GenesLikeMe

    Genetic Association Database (GAD): EDEM1
    Human Genome Epidemiology (HuGE) Navigator: EDEM1 (2 documents)

    Export disorders for EDEM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EDEM1 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with EDEM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of EDEM in the release of misfolded glycoproteins from the calnexin cycle. (PubMed id 12610306)1, 2, 3 Molinari M.... Paganetti P. (Science 2003)
    2. A dual role for EDEM1 in the processing of rod opsin. (PubMed id 19934218)1, 2, 9 Kosmaoglou M.... Cheetham M.E. (J. Cell Sci. 2009)
    3. EDEM1 recognition and delivery of misfolded proteins to the SEL1L- containing ERAD complex. (PubMed id 19524542)1, 2 Cormier J.H.... Hebert D.N. (Mol. Cell 2009)
    4. Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation. (PubMed id 16449189)1, 2 Oda Y.... Mori K. (J. Cell Biol. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T.... Nomura N. (DNA Res. 1996)
    7. EDEM accelerates ERAD by preventing aberrant dimer formation of misfolded alpha1-antitrypsin. (PubMed id 16629899)1, 9 Hosokawa N....Nagata K. (amp 2006)
    8. A novel ER alpha-mannosidase-like protein accelerates ER-associated degradation. (PubMed id 11375934)1, 9 Hosokawa N....Nagata K. (EMBO Rep. 2001)
    9. A shared endoplasmic reticulum-associated degradation pathway involving the EDEM1 protein for glycosylated and nonglycosylated proteins. (PubMed id 23233672)1 Shenkman M....Lederkremer G.Z. (J. Biol. Chem. 2013)
    10. Tyrosinase degradation is prevented when EDEM1 lacks the intrinsically disordered region. (PubMed id 22905195)1 Marin M.B....Petrescu S.M. (PLoS ONE 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9695 HGNC: 18967 AceView: EDEM1 Ensembl:ENSG00000134109 euGenes: HUgn9695
    ECgene: EDEM1 Kegg: 9695 H-InvDB: EDEM1

    (According to HUGE)
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    HUGE: KIAA0212

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EDEM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EDEM1 gene:
    Search GeneIP for patents involving EDEM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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