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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ERN1 Gene

protein-coding   GIFtS: 67
GCID: GC17M062120

Endoplasmic Reticulum To Nucleus Signaling 1

(Previous name: ER to nucleus signalling 1)
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Aliases
for ERN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Endoplasmic Reticulum To Nucleus Signaling 11 2     IRE1P2
ER To Nucleus Signalling 11 2     Inositol-Requiring 12
Inositol-Requiring Enzyme 11 2     ire1-alpha2
Endoplasmic Reticulum-To-Nucleus Signaling 12 3     Protein Kinase/Endoribonuclease2
Inositol-Requiring Protein 12 3     Serine/Threonine-Protein Kinase/Endoribonuclease IRE12
IRE12 3     Ire1-alpha3
IRE1a2 3     EC 2.7.118
hIRE1p2 3     

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 GC17M057488


Summaries
for ERN1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 cytomegalovirus infection, and among its related super-pathways are Parkinson's disease and Activation of Chaperone Genes by XBP1(S). GO annotations related to this gene include endoribonuclease activity and protein serine/threonine kinase activity. 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


Genomic Views
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ERN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17M062120:  view genomic region     (about GC identifiers)

Start:
 62,120,353 bp from pter      End:
 62,208,179 bp from pter
Size:
 87,827 bases      Orientation:
 minus strand

Proteins
for ERN1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
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
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein
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:

  • UniProtKB: Autophosphorylated
  • UniProtKB: ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75460

    • 2 DME Specific Peptides for ERN1 (O75460)
     VHRDLKP  IVHRDLK 

    ERN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ERN1 Protein Expression
    REFSEQ proteins: NP_001424.3  
    ENSEMBL proteins: 
     ENSP00000401445   ENSP00000475519  
    Reactome Protein details: O75460
    Human Recombinant Protein Products 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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ERN1 for ontologies           About GeneDecksing



    ERN1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for ERN1 
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    Protein Domains /
    Families
    for ERN1 gene

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

    5/8 InterPro protein domains (see all 8):
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_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


    Function
    for ERN1 gene

    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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  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 - Custom generated mouse model solutions for ERN1 
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       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
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    6 QIAGEN miScript miRNA 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 plasmid: ERN1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ERN1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ERN1

    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of ERN1 

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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for ERN1 gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ERN1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Alzheimer's disease0.46
    		Non-alcoholic fatty liver disease (NAFLD)0.41
    		Alzheimers Disease0.44
    2Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperones by IRE1alpha0.94
    		Unfolded Protein Response0.76
    3Asparagine N-linked glycosylation
    		Metabolism of proteins0.35
    4Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum
    5Translational Control
    		Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 BioSystems Pathway for ERN1
        Alzheimers Disease


    3        Reactome Pathways for ERN1
        Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERN1

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

    5/120 Interacting proteins for ERN1 (O754601, 2, 3 ENSP000004014454) via UniProtKB, MINT, STRING, and/or I2D (see all 120)
    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
    SYVN1Q86TM62, 3, ENSP000003663954MINT-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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    ERN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ERN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ERN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/11 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)

    Search CenterWatch for drugs/clinical trials and news about ERN1

    Transcripts
    for ERN1 gene

    (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,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for ERN1 gene (2 alternative transcripts): 
    NM_001433.3  NM_152461.2  

    Unigene Cluster for ERN1:

    Endoplasmic reticulum to nucleus signaling 1
    Hs.700027  [show with all ESTs]
    Unigene Representative Sequence: AB209869
    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

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERN1

    Additional mRNA sequence: 

    AB209869.1 AF059198.1 AK292403.1 BC130405.1 BC130407.1 

    5 DOTS entries:

    DT.91785066  DT.70100412  DT.65286901  DT.40127703  DT.91746645 

    24/97 AceView cDNA sequences (see all 97):

    AI734969 AA345460 AI792619 CK904766 AI799794 AI081269 AA973421 BX117163 
    CB990834 BX099892 AI734961 CA311378 AA687888 NM_152461 AW451601 AI972997 
    AI222941 BE893085 AI733809 D82734 BQ446956 Z38435 AA677373 BI911980 

    GeneLoc Exon Structure


    Expression
    for ERN1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    See ERN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERN1

    SOURCE GeneReport for Unigene cluster: Hs.700027

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ERN1: 
              Alzheimer's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat
              Unfolded Protein Response in human mouse rat

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    In Situ
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    Orthologs
    for ERN1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ERN1 gene from 8/17 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 89.09(n)1
    93.33(a)1    		   11 (69.14 cM)5
    789431  NM_023913.21  NP_076402.11 
     1063946505 
    chicken
    (Gallus gallus)    		 Aves ERN11 endoplasmic reticulum to nucleus signaling 1 64.16(n)
    61.55(a)    		   771230  XM_001234522.2  XP_001234523.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ERN16
    		 endoplasmic reticulum to nucleus signaling 1
    		 79(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 60.81(n)
    61.07(a)    		   567021  XM_001919315.2  XP_001919350.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta ire-13
    Ire11    		 protein amino acid phosphorylation
    protein kinase3
    Inositol-requiring enzyme-11    		 53(a)3
    55.08(n)1
    49.93(a)1    		   92B33
    423581  NM_001104369.11  NP_001097839.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ire-11 Protein IRE-1 51.37(n)
    48.91(a)    		   174305  NM_063300.5  NP_495701.2 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes IRE16
    		 Serine-threonine kinase and endoribonuclease; tran...
    		 23(a)
    		 1 → many
    		 VIII(258244-261591)


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

    Paralogs
    for ERN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for ERN1 gene

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1827 SNPs in ERN1 are shown (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
    ----------
    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--------
    rs1863051181,2,4
    		CA lung adenocarcinoma sample4 --62133286(+) GCTGGA/CGCTGC 2 R L mis10--------
    VAR_0404924
    		----see VAR_0404922 N S 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--------

    HapMap Linkage Disequilibrium report for ERN1 (62120353 - 62208179 bp)

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

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    Disorders / Diseases
    for ERN1 gene

    (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.)
    About This Section
    		 OMIM gene information: 604033    OMIM disorders: --

    20/26 diseases for ERN1 (see all 26):    About MalaCards
    glucose intolerance    cytomegalovirus infection    temporal lobe epilepsy    cataract
    malignant glioma    insulin resistance    ischemia    influenza
    myeloma    alzheimer's disease    obesity    hepatitis b
    neuroblastoma    sarcoma    hypoxia    cerebritis
    hepatitis    arthritis    melanoma    thyroiditis


    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

    Publications
    for ERN1 gene

    (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)
    About This Section

    PubMed articles for ERN1 gene, integrated from 9 sources (see all 166):
    (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. (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. (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. (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. (2012)
    5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (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. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Tranlational control by the ER transmembrane kinase/ribonuclease IRE1 under ER stress. (PubMed id 11175748)1, 2 Iwawaki T.... Kohno K. (2001)
    10. USP14 inhibits ER-associated degradation via interaction with IRE1alpha. (PubMed id 19135427)1, 9 Nagai A.... Ichijo H. (2009)

    External Searches for ERN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ERN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2081 HGNC: 3449 AceView: ERN1 Ensembl:ENSG00000178607 euGenes: HUgn2081
    ECgene: ERN1 Kegg: 2081 H-InvDB: ERN1

    Other Databases showing ERN1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ERN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ERN1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ERN1 gene

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



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    About This Section

     
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