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ERN1 Gene

protein-coding   GIFtS: 66
GCID: GC17M062122

Endoplasmic Reticulum To Nucleus Signaling 1

(Previous name: ER to nucleus signalling 1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(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
Endoplasmic Reticulum To Nucleus Signaling 11 2     IRE1P2
IRE12 3 5     Inositol-Requiring 12
ER To Nucleus Signalling 11 2     ire1-alpha2
Inositol-Requiring Enzyme 11 2     Protein Kinase/Endoribonuclease2
Endoplasmic Reticulum-To-Nucleus Signaling 12 3     Serine/Threonine-Protein Kinase/Endoribonuclease IRE12
Inositol-Requiring Protein 12 3     Ire1-alpha3
IRE1a2 3     IRE1A5
hIRE1p2 3     EC 2.7.118

External Ids:    HGNC: 34491   Entrez Gene: 20812   Ensembl: ENSG000001786077   OMIM: 6040335   UniProtKB: O754603   

Export aliases for ERN1 gene to outside databases

Previous GC identifers: GC17M061758 GC17M064547 GC17M062461 GC17M062594 GC17M062582 GC17M059474 GC17M062120 GC17M057488


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERN1 Gene:
The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1
gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is
important in altering gene expression as a response to endoplasmic reticulum-based stress signals. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ERN1 Gene:
ERN1 (endoplasmic reticulum to nucleus signaling 1) is a protein-coding gene. Diseases associated with ERN1 include glucose intolerance, and temporal lobe epilepsy. GO annotations related to this gene include magnesium ion binding and identical protein binding. An important paralog of this gene is ERN2.

UniProtKB/Swiss-Prot: ERN1_HUMAN, O75460
Function: Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads
to enzyme auto-activation. The active endoribonuclease domain splices XBP1 mRNA to generate a new C-terminus,
converting it into a potent unfolded-protein response transcriptional activator and triggering growth arrest and
apoptosis

summary for ERN1 Gene:
IRE1 (also known as endoplasmic reticulum to nucleus signaling (ERN) 1) is a transmembrane resident ER
protein that possesses both kinase and endonuclease domains. Both yeast (IRE1) and mammalian (IRE1alpha)
homologs are involved in the degradation of misfolded proteins, as part of the unfolded protein response
(UPR) pathway. IRE1 (yeast) is involved in the endonucleolytic cleavage of HAC1 mRNA, whereas IRE1alpha
(human) catalyzes the splicing of X-box binding protein (XBP) 1 mRNA. XBP1 mRNA splicing triggers
upregulation of genes involved in the ERAD pathway, induction of XBP1 expression and the synthesis of ER
chaperones.

Gene Wiki entry for ERN1 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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Regulatory elements:
   Regulatory transcription factor binding sites in the ERN1 gene promoter:
         Nkx2-2   HSF1short   Pax-2   HSF1 (long)   POU6F1 (c2)   Pax-2a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ERN1 promoter sequence
   Search Chromatin IP Primers for ERN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERN1


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

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23

ERN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERN1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M062122:  view genomic region     (about GC identifiers)

Start:
62,116,502 bp from pter      End:
62,208,179 bp from pter
Size:
91,678 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERN1_HUMAN, O75460 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase/endoribonuclease IRE1 precursor  
Size: 977 amino acids; 109735 Da
Cofactor: Magnesium
Subunit: Interacts with DAB2IP (via PH domain); the interaction occurs in a ER stress-induced dependent manner and
is required for subsequent recruitment of TRAF2 to ERN1 (By similarity). Homodimer; disulfide-linked. Dimer
formation is driven by hydrophobic interactions within the N-terminal luminal domains and stabilized by disulfide
bridges. Also binds HSPA5, a negative regulator of the unfolded protein response. This interaction may disrupt
homodimerization and prevent activation of ERN1. Interacts with TAOK3 and TRAF2
2 PDB 3D structures from and Proteopedia for ERN1:
2HZ6 (3D)        3P23 (3D)    
Secondary accessions: A1L457 A8K8N8 A8MXS7 Q59EE2
Alternative splicing: 2 isoforms:  O75460-1   O75460-2   

Explore the universe of human proteins at neXtProt for ERN1: NX_O75460

Explore proteomics data for ERN1 at MOPED

Post-translational modifications: 

  • Autophosphorylated1
  • ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities1
  • Glycosylation2 at Asn176
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ERN1 (O75460)
     VHRDLKP  IVHRDLK 


    See ERN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001424.3  
    ENSEMBL proteins: 
     ENSP00000401445   ENSP00000475519  
    Reactome Protein details: O75460

    ERN1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant ERN1 Protein
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    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for ERN1
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    Novus Biologicals ERN1 Proteins
    Sino Biological Recombinant Protein for ERN1
    Sino Biological Cell Lysate for ERN1
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    Cloud-Clone Corp. Proteins for ERN1

    ERN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ERN1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for ERN1  (IRE1)
    OriGene Antibodies for ERN1
    OriGene Custom Antibody Services for ERN1
    Novus Biologicals ERN1 Antibodies
    Abcam antibodies for ERN1 (Q76MJ5, O75460)
    Cloud-Clone Corp. Antibodies for ERN1
    ThermoFisher Antibody for ERN1
    LSBio Antibodies in human, mouse, rat for ERN1

    ERN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ERN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ERN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ERN1
    Cloud-Clone Corp. CLIAs for ERN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: endoplasmic reticulum to nucleus signaling 1
    IRE family

    Selected InterPro protein domains (see all 8):
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom
     IPR006567 PUG-dom
     IPR011047 Quinonprotein_ADH-like_supfam

    Graphical View of Domain Structure for InterPro Entry O75460

    ProtoNet protein and cluster: O75460

    3 Blocks protein domains:
    IPB002372 Bacterial quinoprotein
    IPB006567 PUG
    IPB010513 Ribonuclease 2-5A


    UniProtKB/Swiss-Prot: ERN1_HUMAN, O75460
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 KEN domain
    Similarity: Contains 1 protein kinase domain


    ERN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERN1_HUMAN, O75460
    Function: Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads
    to enzyme auto-activation. The active endoribonuclease domain splices XBP1 mRNA to generate a new C-terminus,
    converting it into a potent unfolded-protein response transcriptional activator and triggering growth arrest and
    apoptosis
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: The kinase domain is activated by trans-autophosphorylation. Kinase activity is required for
    activation of the endoribonuclease domain

         Enzyme Number (IUBMB): EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA9637683
    GO:0004519endonuclease activity ----
    GO:0004521endoribonuclease activity TAS--
    GO:0004540ribonuclease activity ----
    GO:0004672protein kinase activity ----
         
    ERN1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for ERN1:
     Decreased Salmonella enterica   Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased G1 DNA content 
     Increased cell death HMECs cel 

         11 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ern1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     normal 

    ERN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ERN1: Ern1tm1Rjk Ern1tm1Tiw Ern1tm1Dron Ern1tm2.2Tiw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ERN1:
    hsa-let-7a-5p (MIRT052484)

    Block miRNA regulation of human, mouse, rat ERN1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate ERN1:
    hsa-miR-146a* hsa-miR-124 hsa-miR-3166 hsa-miR-532-3p hsa-miR-506 hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidERN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERN1
    Predesigned siRNA for gene silencing in human, mouse, rat ERN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERN1

    Clone
    Products:
         
    OriGene clones in human, mouse for ERN1 (see all 6)
    OriGene ORF clones in mouse, rat for ERN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERN1 (NM_001433)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERN1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ERN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ERN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN1


    (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
    ERN1_HUMAN, O75460: Endoplasmic reticulum membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus2
    plasma membrane2
    cytosol1
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005637nuclear inner membrane IEA--
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0030176integral component of endoplasmic reticulum membrane IDA9637683

    ERN1 for ontologies           About GeneDecksing


    (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 ERN1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperones by IRE1alpha0.61
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ERN1
        Translational Control

    2 BioSystems Pathways for ERN1
        Corticotropin-releasing hormone
    Alzheimers Disease


    1 Reactome Pathway for ERN1
        IRE1alpha activates chaperones


    3 Kegg Pathways  (Kegg details for ERN1):
        Protein processing in endoplasmic reticulum
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease


    ERN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERN1: 
              Alzheimer's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERN1

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

    Selected Interacting proteins for ERN1 (O754601, 2, 3 ENSP000004014454) via UniProtKB, MINT, STRING, and/or I2D (see all 199)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAOK3Q9H2K81, 3, ENSP000003763174EBI-371750,EBI-1384100 I2D: score=2 STRING: ENSP00000376317
    BAXQ078121, 3, ENSP000002932884EBI-371750,EBI-516580 I2D: score=1 STRING: ENSP00000293288
    SYVN1Q86TM61, 2, 3, ENSP000003663954EBI-371750,EBI-947849 MINT-6543145 MINT-6543119 I2D: score=3 STRING: ENSP00000366395
    TRAF2Q129331, 3, ENSP000002476684EBI-371750,EBI-355744 I2D: score=3 STRING: ENSP00000247668
    UBCP0CG482, 3, ENSP000003448184MINT-6543131 I2D: score=2 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006397mRNA processing ----
    GO:0006468protein phosphorylation IDA9637683
    GO:0006915apoptotic process ----

    ERN1 for ontologies           About GeneDecksing



    (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 

    Compounds for ERN1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    STF 083010Inhibits IRE1alpha endonuclease activity[307543-71-1]
    4mu8CInhibits IRE1alpha endoribonuclease activity[14003-96-4]

    3 HMDB Compounds for ERN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    1 DrugBank Compound for ERN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N~2~-1H-benzimidazol-5-yl-N~4~-(3-cyclopropyl-1H-pyrazol-5-yl)pyrimidine-2,4-diamine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ERN1 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tunicamycin 77.5 1 17525289 (1)
    thapsigargin 71.9 5 19428936 (1), 17525289 (1), 19139269 (1)
    inositol 40.5 5 17349291 (1), 20146926 (1), 15799970 (1), 18052927 (1) (see all 5)
    palmitate 28 3 18559892 (1)
    oleic acid 24.6 3 18559892 (1)
    glucose 15 11 16950141 (4), 18286202 (3), 17608719 (1), 17526500 (1)
    calcium 9.99 1 19700217 (1)
    glutamine 8.99 1 20232225 (1)
    oxygen 0 1 19925454 (1)
    threonine 0 2 11333017 (1), 10835430 (1)



    ERN1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERN1 gene (2 alternative transcripts): 
    NM_001433.3  NM_152461.2  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433197(uc002jdz.2) ENST00000583077 ENST00000583896 ENST00000579249
    ENST00000577567 ENST00000584041 ENST00000583028 ENST00000606895
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ERN1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate ERN1:
    hsa-miR-146a* hsa-miR-124 hsa-miR-3166 hsa-miR-532-3p hsa-miR-506 hsa-miR-488
    SwitchGear 3'UTR luciferase reporter plasmidERN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ERN1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERN1 (NM_001433)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ERN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERN1
      QuantiTect SYBR Green Assays in human, mouse, rat ERN1
      QuantiFast Probe-based Assays in human, mouse, rat ERN1

    Selected AceView cDNA sequences (see all 97):

    AI734961 NM_152461 AI734969 CK904766 CB990834 AA973421 D82734 AW451601 
    BQ446956 AI799794 AI222941 BX099892 BE893085 AI792619 CA311378 AA345460 
    AI733809 AI972997 BX117163 AA687888 Z38435 AI081269 BM559806 BV191080 

    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)
    About This Section

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    ERN1 expression in normal human tissues (normalized intensities)      ERN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGCAGGTG
    ERN1 Expression
    About this image


    ERN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    ERN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERN1 Protein Expression

    UniProtKB/Swiss-Prot: ERN1_HUMAN, O75460
    Tissue specificity: Ubiquitously expressed. High levels observed in pancreatic tissue

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERN1: 
              Alzheimer's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ERN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERN1
    QuantiTect SYBR Green Assays in human, mouse, rat ERN1
    QuantiFast Probe-based Assays in human, mouse, rat ERN1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN1

    (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 animals and fungi.

    Orthologs for ERN1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ern11 , 5 endoplasmic reticulum (ER) to nucleus signalling 11, 5 89.08(n)1
    93.53(a)1
      11 (69.14 cM)5
    789431  NM_023913.21  NP_076402.11 
     1063946505 
    chicken
    (Gallus gallus)
    Aves LOC4174141 serine/threonine-protein kinase/endoribonuclease IRE1 76.63(n)
    83.49(a)
      417414  XM_004946183.1  XP_004946240.1 
    lizard
    (Anolis carolinensis)
    Reptilia ERN16
    endoplasmic reticulum to nucleus signaling 1
    78(a)
    1 ↔ 1
    GL343326.1(424086-513103)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ065023.12   -- 74.39(n)    BJ065023.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ern21 endoplasmic reticulum to nucleus signaling 2 61.25(n)
    61.85(a)
      567021  XM_001919315.3  XP_001919350.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta ire-13
    Ire11
    protein amino acid phosphorylation
    protein kinase3
    Inositol-requiring enzyme-11
    53(a)3
    56.21(n)1
    52.25(a)1
      92B33
    423581  NM_001104369.21  NP_001097839.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ire-11 ire-1 51.29(n)
    48.84(a)
      174305  NM_001267206.1  NP_001254135.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRE16
    Serine-threonine kinase and endoribonuclease; tran...
    22(a)
    1 → many
    VIII(258244-261591) YHR079C


    ENSEMBL Gene Tree for ERN1 (if available)
    TreeFam Gene Tree for ERN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERN1 gene
    ERN22  
    2 SIMAP similar genes for ERN1 using alignment to 1 protein entry:     ERN1_HUMAN:
    ERN2    CDK4

    ERN1 for paralogs           About GeneDecksing



    (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 ERN1 (see all 1827)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1863051181,2,,4
    CA lung adenocarcinoma sample4 --62133286(+) GCTGGA/CGCTGC 2 R L mis10--------
    VAR_0404884
    A renal clear cell carcinoma sample4--see VAR_0404882 N S mis40--------
    VAR_0404944
    An ovarian serous carcinoma sample4--see VAR_0404942 P L mis40--------
    VAR_0404934
    A glioblastoma multiforme sample4--see VAR_0404932 S F mis40--------
    VAR_0404914
    A gastric adenocarcinoma sample4--see VAR_0404912 R W mis40--------
    rs1837924711,2
    --62119905(+) GATCCC/TCCAAC 1 -- ds50010--------
    rs1969071,2
    C,F,O,A,H--62120045(+) GAAAAG/AAAAAT 1 -- ds500119Minor allele frequency- A:0.28NA NS EA WA CSA 816
    rs99098931,2
    C,F--62120050(+) AAAAAT/AATGGT 1 -- ds50014Minor allele frequency- A:0.14WA NA 242
    rs1999706301,2
    C--62120050(+) AAAAA-/TATGGT 1 -- ds50010--------
    rs1488560771,2
    --62120064(+) AACAAA/TTTAGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ERN1 (62116502 - 62208179 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ERN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483108CNV Loss15286789
    nsv833511CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ERN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604033    OMIM disorders: --

    Selected diseases for ERN1 (see all 30):    About MalaCards
    glucose intolerance    temporal lobe epilepsy    cytomegalovirus infection    burns
    malignant glioma    cataract    fatty liver disease    insulin resistance
    influenza    ischemia    hypoxia    myeloma
    hepatitis b    liver disease    alzheimer's disease    obesity
    neuroblastoma    cerebritis    sarcoma    hepatitis


    ERN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for ERN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 16.9 3 12843613 (1), 16581782 (1), 11278723 (1)
    tumors 5.06 6 19252749 (1), 12843613 (1), 16581782 (1), 11278723 (1) (see all 5)
    cancer 4.59 3 1962622 (2)

    Genetic Association Database (GAD): ERN1
    Human Genome Epidemiology (HuGE) Navigator: ERN1 (6 documents)

    Export disorders for ERN1 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 ERN1 gene, integrated from 10 sources (see all 174):
    (articles sorted by number of sources associating them with ERN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A stress response pathway from the endoplasmic reticulum to the nucleus requires a novel bifunctional protein kinase/endoribonuclease (Ire1p) in mammalian cells. (PubMed id 9637683)1, 2, 3, 9 Tirasophon W.... Kaufman R.J. (Genes Dev. 1998)
    2. Structure and intermolecular interactions of the luminal dimerization domain of human IRE1alpha. (PubMed id 12637535)1, 2, 9 Liu C.Y.... Kaufman R.J. (J. Biol. Chem. 2003)
    3. Activation of caspase-12, an endoplastic reticulum (ER) resident caspase, through tumor necrosis factor receptor-associated factor 2- dependent mechanism in response to the ER stress. (PubMed id 11278723)1, 2, 9 Yoneda T....Tohyama M. (J. Biol. Chem. 2001)
    4. PARP16 is a tail-anchored endoplasmic reticulum protein required for the PERK-and IRE1alpha-mediated unfolded protein response. (PubMed id 23103912)1, 2 Jwa M. and Chang P. (Nat. Cell Biol. 2012)
    5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Translational control by the ER transmembrane kinase/ribonuclease IRE1 under ER stress. (PubMed id 11175748)1, 2 Iwawaki T.... Kohno K. (Nat. Cell Biol. 2001)
    10. USP14 inhibits ER-associated degradation via interaction with IRE1alpha. (PubMed id 19135427)1, 9 Nagai A.... Ichijo H. (Biochem. Biophys. Res. Commun. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2081 HGNC: 3449 AceView: ERN1 Ensembl:ENSG00000178607 euGenes: HUgn2081
    ECgene: ERN1 Kegg: 2081 H-InvDB: ERN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ERN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ERN1 gene:
    Search GeneIP for patents involving ERN1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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