Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ERN1 Gene

Aliases for ERN1 Gene

  • Endoplasmic Reticulum To Nucleus Signaling 1 2 3
  • Endoplasmic Reticulum-To-Nucleus Signaling 1 3 4
  • Inositol-Requiring Protein 1 3 4
  • Inositol-Requiring Enzyme 1 2 3
  • ER To Nucleus Signalling 1 2 3
  • Ire1-Alpha 3 4
  • HIRE1p 3 4
  • IRE1a 3 4
  • IRE1 3 4
  • Protein Kinase/Endoribonuclease 3
  • Inositol-Requiring 1 3
  • EC 2.7.11 63
  • IRE1P 3

External Ids for ERN1 Gene

Previous GeneCards Identifiers for ERN1 Gene

  • GC17M061758
  • GC17M064547
  • GC17M062461
  • GC17M062594
  • GC17M062582
  • GC17M059474
  • GC17M062120
  • GC17M057488
  • GC17M062122

Summaries for ERN1 Gene

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. Among its related pathways are Transport to the Golgi and subsequent modification and Translational Control. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring phosphorus-containing groups. An important paralog of this gene is ERN2.

UniProtKB/Swiss-Prot for ERN1 Gene

  • 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.

Tocris Summary for ERN1 Gene

  • IRE1 is a transmembrane resident ER protein that possesses both kinase and endonuclease domains. Both yeast (IRE) and mammalian (IRE1alpha) homologs are involved in the degradation of misfolded proteins, as part of the unfolded protein response (UPR) pathway.

Gene Wiki entry for ERN1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERN1 Gene

Genomics for ERN1 Gene

Regulatory Elements for ERN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ERN1 Gene

Chromosome:
17
Start:
64,039,142 bp from pter
End:
64,130,819 bp from pter
Size:
91,678 bases
Orientation:
Minus strand

Genomic View for ERN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for ERN1 Gene

Proteins for ERN1 Gene

  • Protein details for ERN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75460-ERN1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase/endoribonuclease IRE1
    Protein Accession:
    O75460
    Secondary Accessions:
    • A1L457
    • A8K8N8
    • A8MXS7
    • Q59EE2

    Protein attributes for ERN1 Gene

    Size:
    977 amino acids
    Molecular mass:
    109735 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for ERN1 Gene

    Alternative splice isoforms for ERN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERN1 Gene

Proteomics data for ERN1 Gene at MOPED

Selected DME Specific Peptides for ERN1 Gene

Post-translational modifications for ERN1 Gene

Other Protein References for ERN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERN1 (IRE1)

Domains & Families for ERN1 Gene

Gene Families for ERN1 Gene

Suggested Antigen Peptide Sequences for ERN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75460

UniProtKB/Swiss-Prot:

ERN1_HUMAN :
  • Contains 1 KEN domain.
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Domain:
  • Contains 1 KEN domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with ERN1: view

Function for ERN1 Gene

Molecular function for ERN1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
The kinase domain is activated by trans-autophosphorylation. Kinase activity is required for activation of the endoribonuclease domain.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ERN1 Gene

Gene Ontology (GO) - Molecular Function for ERN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 9637683
GO:0004519 endonuclease activity --
GO:0004521 endoribonuclease activity TAS --
GO:0004540 ribonuclease activity --
GO:0004672 protein kinase activity --
genes like me logo Genes that share ontologies with ERN1: view
genes like me logo Genes that share phenotypes with ERN1: view

Animal Models for ERN1 Gene

MGI Knock Outs for ERN1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERN1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ERN1 Gene

Localization for ERN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERN1 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERN1 Gene COMPARTMENTS Subcellular localization image for ERN1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ERN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005637 nuclear inner membrane IEA --
GO:0005737 cytoplasm IDA 19622636
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA 23529610
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with ERN1: view

Pathways & Interactions for ERN1 Gene

genes like me logo Genes that share pathways with ERN1: view

Pathways by source for ERN1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ERN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001935 endothelial cell proliferation IDA 23529610
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006379 mRNA cleavage IDA 21317875
GO:0006397 mRNA processing --
genes like me logo Genes that share ontologies with ERN1: view

No data available for SIGNOR curated interactions for ERN1 Gene

Drugs & Compounds for ERN1 Gene

(11) Drugs for ERN1 Gene - From: HMDB, NovoSeek, ApexBio, DrugBank, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
N~2~-1H-benzimidazol-5-yl-N~4~-(3-cyclopropyl-1H-pyrazol-5-yl)pyrimidine-2,4-diamine Experimental Pharma Target 0
Kaempferol Experimental Pharma Apoptosis inducer;antioxidant;flavonoid, Proapoptotic; downregulates PLK1 expression and activates mitochondrial Ca2+ uniporter 0
oleic acid Experimental Pharma Activation, Activator 0
4μ8C Pharma 0

(9) Additional Compounds for ERN1 Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
4mu8C
14003-96-4
APY 29
1216665-49-4
STF 083010
307543-71-1
glucose
genes like me logo Genes that share compounds with ERN1: view

Transcripts for ERN1 Gene

Unigene Clusters for ERN1 Gene

Endoplasmic reticulum to nucleus signaling 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERN1 Gene

No ASD Table

Relevant External Links for ERN1 Gene

GeneLoc Exon Structure for
ERN1
ECgene alternative splicing isoforms for
ERN1

Expression for ERN1 Gene

mRNA expression in normal human tissues for ERN1 Gene

mRNA differential expression in normal tissues according to GTEx for ERN1 Gene

This gene is overexpressed in Pancreas (x4.2) and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for ERN1 Gene

This gene is overexpressed in Plasma (24.9), Heart (15.3), Kidney (13.9), and Adrenal (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERN1 Gene



SOURCE GeneReport for Unigene cluster for ERN1 Gene Hs.700027

mRNA Expression by UniProt/SwissProt for ERN1 Gene

O75460-ERN1_HUMAN
Tissue specificity: Ubiquitously expressed. High levels observed in pancreatic tissue.
genes like me logo Genes that share expression patterns with ERN1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ERN1 Gene

Orthologs for ERN1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERN1 35
  • 88.81 (n)
  • 94.49 (a)
ERN1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERN1 35
  • 90.67 (n)
  • 95.49 (a)
ERN1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ern1 35
  • 89.08 (n)
  • 93.53 (a)
Ern1 16
Ern1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERN1 35
  • 99.49 (n)
  • 99.69 (a)
ERN1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ern1 35
  • 88.67 (n)
  • 93.51 (a)
oppossum
(Monodelphis domestica)
Mammalia ERN1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERN1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC417414 35
  • 76.63 (n)
  • 83.49 (a)
ERN1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERN1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ern2 35
  • 61.83 (n)
  • 59.54 (a)
Str.12018 35
zebrafish
(Danio rerio)
Actinopterygii ern2 35
  • 61.25 (n)
  • 61.85 (a)
ern1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ire-1 37
  • 53 (a)
Ire1 35
  • 56.21 (n)
  • 52.25 (a)
Ire1 36
  • 34 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004176 35
  • 53.63 (n)
  • 49.39 (a)
worm
(Caenorhabditis elegans)
Secernentea ire-1 35
  • 51.29 (n)
  • 48.84 (a)
ire-1 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRE1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5230 36
  • 15 (a)
OneToOne
Species with no ortholog for ERN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERN1 Gene

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

Paralogs for ERN1 Gene

Paralogs for ERN1 Gene

(2) SIMAP similar genes for ERN1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ERN1: view

Variants for ERN1 Gene

Sequence variations from dbSNP and Humsavar for ERN1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs28406 -- 64,067,192(+) CTTTA(A/C)CACTC intron-variant
rs77684 -- 64,049,624(+) TACCC(C/T)CAGGG intron-variant
rs107403 -- 64,066,473(+) TTTAA(G/T)AACTC intron-variant
rs107404 -- 64,066,532(+) ATGAA(A/C/G)CAGTC intron-variant
rs111372 -- 64,062,790(+) CTCCT(C/T)CAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERN1 Gene

Variant ID Type Subtype PubMed ID
nsv833511 CNV Loss 17160897
nsv483108 CNV Loss 15286789

Variation tolerance for ERN1 Gene

Residual Variation Intolerance Score: 47.47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.04; 60.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERN1 Gene

HapMap Linkage Disequilibrium report
ERN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERN1 Gene

Disorders for ERN1 Gene

Relevant External Links for ERN1

Genetic Association Database (GAD)
ERN1
Human Genome Epidemiology (HuGE) Navigator
ERN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERN1
genes like me logo Genes that share disorders with ERN1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERN1 Gene

Publications for ERN1 Gene

  1. A stress response pathway from the endoplasmic reticulum to the nucleus requires a novel bifunctional protein kinase/endoribonuclease (Ire1p) in mammalian cells. (PMID: 9637683) Tirasophon W. … Kaufman R.J. (Genes Dev. 1998) 2 23 67
  2. Oxidative and endoplasmic reticulum stress signaling are involved in dehydrocostuslactone-mediated apoptosis in human non-small cell lung cancer cells. (PMID: 19700217) Hung J.Y. … Huang M.S. (Lung Cancer 2010) 23 67
  3. AlphaScreen-based characterization of the bifunctional kinase/RNase IRE1alpha: a novel and atypical drug target. (PMID: 20237204) Bouchecareilh M. … Chevet E. (J Biomol Screen 2010) 23 67
  4. TLR activation of the transcription factor XBP1 regulates innate immune responses in macrophages. (PMID: 20351694) Martinon F. … Glimcher L.H. (Nat. Immunol. 2010) 23 67
  5. MCP-1 causes cardiomyoblast death via autophagy resulting from ER stress caused by oxidative stress generated by inducing a novel zinc-finger protein, MCPIP. (PMID: 19925454) Younce C.W. … Kolattukudy P.E. (Biochem. J. 2010) 23 67

Products for ERN1 Gene

  • Addgene plasmids for ERN1

Sources for ERN1 Gene

Back to Top

Content