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

ERN1 Gene

protein-coding   GIFtS: 64
GCID: GC17M062120

endoplasmic reticulum to nucleus signaling 1

(Previous name: ER to nucleus signalling 1 )
 Explore 28 diseases affiliated with
ERN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERN1    

Aliases
for ERN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Endoplasmic Reticulum To Nucleus Signaling 11 2     Inositol-Requiring 12
IRE11 2 3     Inositol-Requiring Enzyme 12
IRE1P1 2     Ire1-Alpha1
ER To Nucleus Signalling 11 2     Protein Kinase/Endoribonuclease2
Endoplasmic Reticulum-To-Nucleus Signaling 12 3     Serine/Threonine-Protein Kinase/Endoribonuclease IRE12
Inositol-Requiring Protein 12 3     Ire1-Alpha1
IRE1a2 3     EC 2.7.118
HIRE1p1     

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:
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)

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:
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 (IRE1?)
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 IRE1? (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. Under
normal conditions, IRE1 is maintained in an inactive state due to the binding of B-cell immunoglobulin
binding protein (BiP) to its luminal domain. However, the accumulation of unfolded proteins within the ER
induces ER stress, causing BiP to detach from IRE1. Following BiP detachment, IRE1 undergoes dimerization
and autophosphorylation through the actions of IRE1 kinase domains. Activation of IRE1 endonuclease and
kinase domains may also occur by direct binding of unfolded proteins to IRE1.

Gene Wiki entry for ERN1


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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
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:
 62,207,504 bp from pter
Size:
 87,152 bases      Orientation:
 minus strand

Proteins
for ERN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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: 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

Post-translational modifications:

  • Autophosphorylated1
  • ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75460

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

    ERN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001424.3  
    ENSEMBL proteins: 
     ENSP00000401445  
    Reactome Protein details: O75460
    Human Recombinant Protein Products: 
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    Uscn Proteins for ERN1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    ERN1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ERN1

    Protein Domains /
    Families
    for ERN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERN1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     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 families:
    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


    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,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    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
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERN1 (see all 4)
    OriGene shRNA RFP: ERN1
    OriGene siRNA: ERN1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERN1

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERN1 (see all 2)
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    Search LifeMap BioReagents cell lines for ERN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN1

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA9637683
    GO:0004519endonuclease activity ----
    GO:0004521endoribonuclease activity TAS--
    GO:0004674protein serine/threonine kinase activity TAS--
    GO:0005515protein binding IPI16645094


    ERN1 for ontologies           About GeneDecksing


    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 

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


    Pathways & Interactions
    for ERN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperones by IRE1alpha0.94
    		Unfolded Protein Response0.71
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Alzheimer's disease0.43
    		Alzheimers Disease0.00
    3Cleavage of Xbp1 mRNA by IRE1alpha and Splicing of Cleaved Xbp1 mRNA
    		Cleavage of Xbp1 mRNA by IRE1alpha and Splicing of Cleaved Xbp1 mRNA1.00
    4Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    5Translational Control
    		Translational Control1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    1 BioSystems Pathway for ERN1 
        Alzheimers Disease

    4        Reactome Pathways for ERN1
        Cleavage of Xbp1 mRNA by IRE1alpha and Splicing of Cleaved Xbp1 mRNA
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    2         Kegg Pathways  (Kegg details for ERN1):
        Protein processing in endoplasmic reticulum
    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-1046651 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, 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 IRE1a endonuclease activity[307543-71-1]
    4u8CInhibits IRE-1a 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 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000433197(uc002jdz.2) ENST00000583077 ENST00000583896 ENST00000579249
    ENST00000577567 ENST00000584041 ENST00000583028

    miRNA
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    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
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    Clone
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    Primer
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    Additional cDNA 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):

    BX099892 BX117163 AA973421 Z38435 CA311378 BE893085 BQ446956 AI734969 
    AI792619 AI972997 AI799794 D82734 AI733809 CK904766 AA345460 NM_152461 
    AI081269 CB990834 AI734961 AA687888 AI222941 AW451601 AI765908 AK055561 

    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
    CGAP TAG: CTGGCAGGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERN1

    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 eukaryotes.

    Orthologs for ERN1 gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343326.1(476491-513079)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G118706
    IRE1A6
    (see all 3)    		 endoribonuclease/protein kinase IRE1-like protein
    (see all 3)    		 25(a)
    23(a)
    (see all 3)    		 many ↔ many
    many ↔ many
    (see all 3)    		 3(3746998-3749093)
    2(7617210-7621109)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 ribonuclease 2-5A family protein, expressed
    		 22(a)
    		 1 → many
    		 7(16869475-16874362)


    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, UniProtKB, 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

    10/1513 NCBI SNPs in ERN1 are shown (see all 1513)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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
    		--62120050(+) AAAAA-/TATGGT 1 -- ds50010--------
    rs1488560771,2
    		--62120064(+) AACAAA/TTTAGA 1 -- ds50010--------
    rs1378982731,2
    		--62120114(+) TTGCT-/ATAATG 1 -- ds50010--------
    rs1119905591,2
    		C,--62120147(+) TTCTACT/-TACAT 1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1870677631,2
    		--62120148(+) TGTTCC/TATACA 1 -- ds50010--------
    rs1918430111,2
    		--62120165(+) CTCTTC/GAGGGG 1 -- ds50010--------
    rs1434735181,2
    		--62120313(+) GCCAAG/TAAAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ERN1 (62120353 - 62207504 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ERN1
         1 CNV: 0210

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERN1
    DNA2.0 Custom Variant and Variant Library Synthesis for ERN1

    Disorders / Diseases
    for ERN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ERN1 for disorders           About GeneDecksing

    OMIM gene information: 604033    OMIM disorders: --

    20/28 diseases for ERN1 (see all 28):    About MalaCards
    temporal lobe epilepsy    glucose intolerance    cytomegalovirus infection    insulin resistance
    malignant glioma    hepatitis b    cataract    liver cancer
    homocysteine    alzheimer's disease    neurodegeneration    lung cancer
    ischemia    myeloma    hepatitis    obesity
    sarcoma    cerebritis    cholesterol    hypoxia

    3 Novoseek 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)

    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 157):
    (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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Tranlational control by the ER transmembrane kinase/ribonuclease IRE1 under ER stress. (PubMed id 11175748)1, 2 Iwawaki T.... Kohno K. (2001)
    7. USP14 inhibits ER-associated degradation via interaction with IRE1alpha. (PubMed id 19135427)1, 9 Nagai A.... Ichijo H. (2009)
    8. Endoplasmic reticulum stress increases the expression of methylenetetrahydrofolate reductase through the IRE1 transducer. (PubMed id 18065414)1, 9 Leclerc D. and Rozen R. (2008)
    9. Site-specific cleavage of CD59 mRNA by endoplasmic reticulum-localized ribonuclease, IRE1. (PubMed id 17585877)1, 9 Oikawa D....Iwawaki T. (2007)
    10. The crystal structure of human IRE1 luminal domain reveals a conserved dimerization interface required for activation of the unfolded protein response. (PubMed id 16973740)2, 9 Zhou J....Kaufman R.J. (2006)

    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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