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This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protei... See more...
Aliases for ERN1 Gene
Aliases for ERN1 Gene
External Ids for ERN1 Gene
- HGNC: 3449
- Entrez Gene: 2081
- Ensembl: ENSG00000178607
- OMIM: 604033
- UniProtKB: O75460
Previous GeneCards Identifiers for ERN1 Gene
- GC17M061758
- GC17M064547
- GC17M062461
- GC17M062594
- GC17M062582
- GC17M059474
- GC17M062120
- GC17M057488
- GC17M062122
Summaries for ERN1 Gene
-
This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]
GeneCards Summary for ERN1 Gene
ERN1 (Endoplasmic Reticulum To Nucleus Signaling 1) is a Protein Coding gene. Diseases associated with ERN1 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 and Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus. Among its related pathways are Spinocerebellar ataxia and Photodynamic therapy-induced unfolded protein response. Gene Ontology (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 Summary for ERN1 Gene
-
Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11779464, PubMed:11175748, PubMed:12637535, PubMed:9637683, PubMed:21317875). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390, PubMed:21317875). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:24508390, PubMed:21317875). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262).
-
Inositol-requiring enzyme 1 (IRE1) is a resident transmembrane ER protein with 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).
Additional gene information for ERN1 Gene
- HGNC(3449)
- Entrez Gene(2081)
- Ensembl(ENSG00000178607)
- OMIM(604033)
- UniProtKB(O75460)
- Open Targets Platform(ENSG00000178607)
- Monarch Initiative
- Search for ERN1 at DataMed
- Search for ERN1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERN1 Gene
Genomics for ERN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ERN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ERN1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERN1
- Top Transcription factor binding sites by QIAGEN in the ERN1 gene promoter:
-
- ATF6
- HSF1 (long)
- HSF1short
- Nkx2-2
- Pax-2
- Pax-2a
- POU6F1 (c2)
Genomic Locations for ERN1 Gene
Genomic Locations for ERN1 Gene
- chr17:64,039,142-64,132,469
- (GRCh38/hg38)
- Size:
- 93,328 bases
- Orientation:
- Minus strand
- chr17:62,116,502-62,208,179
- (GRCh37/hg19)
- Size:
- 91,678 bases
- Orientation:
- Minus strand
Genomic View for ERN1 Gene
Genes around ERN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.3 by HGNC
- 17q23.3 by Entrez Gene
- 17q23.3 by Ensembl
ERN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• 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
- 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:
-
- Monomer (PubMed:29198525, PubMed:16973740). Homodimer; disulfide-linked; homodimerization takes place in response to endoplasmic reticulum stress and promotes activation of the kinase and endoribonuclease activities (PubMed:12637535, PubMed:24508390, PubMed:16973740, PubMed:21317875). Dimer formation is driven by hydrophobic interactions within the N-terminal luminal domains and stabilized by disulfide bridges (PubMed:12637535). Interacts (via the luminal region) with DNAJB9/ERdj4; interaction takes place in unstressed cells and promotes recruitment of HSPA5/BiP (PubMed:29198525). Interacts (via the luminal region) with HSPA5/BiP; HSPA5/BiP is a negative regulator of the unfolded protein response (UPR) that prevents homodimerization of ERN1/IRE1 and subsequent activation of the protein (PubMed:12637535, PubMed:29198525). Interacts with PDIA6, a negative regulator of the UPR; the interaction is direct and disrupts homodimerization (PubMed:24508390). Interacts with DAB2IP (via PH domain); the interaction occurs in a endoplasmic reticulum stress-induced dependent manner and is required for subsequent recruitment of TRAF2 to ERN1/IRE1 (By similarity). Interacts with TAOK3 and TRAF2 (PubMed:11278723). Interacts with RNF13 (PubMed:23378536). Interacts with LACC1 (PubMed:31875558).
Three dimensional structures from OCA and Proteopedia for ERN1 Gene
Protein Expression for ERN1 Gene
Selected DME Specific Peptides for ERN1 Gene
- O75460:
-
- VHRDLKP
- IVHRDLK
Post-translational modifications for ERN1 Gene
- Autophosphorylated following homodimerization. Autophosphorylation promotes activation of the endoribonuclease domain.
- ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities.
-
Glycosylation at Asn176
- NX_O75460 (NX_O75460-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ERN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ERN1 / IRE1 Antibody (LS-B680) and ERN1 / IRE1 Antibody (LS-B8029)
- G Biosciences Immunotag™ Phospho-IRE1 (Ser724) Antibody and Immunotag™ IRE1 Antibody
- Creative Diagnostics Anti-ERN1 monoclonal antibody, clone 4E2
- HUABIO Anti-ERN1 Antibody and ERN1 Antibody (ER1902-90)
-
Custom Antibody ServicesOriGene Antibodies for ERN1
- Novus Biologicals Antibodies for ERN1
-
Abcam antibodies for ERN1
- Invitrogen Antibodies for ERN1 (AFLGC-ERN1)
- antibodies-online: Show 50 available ERN1 Antibodies ranked by validation data
- Compare Top ERN1 Antibodies
-
Recommended
- 170 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 1 IHC Antibody (anti-human)
- 99 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 67 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERN1
- Sino Biological Antibodies for ERN1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ERN1
- Origene Custom Protein Services for ERN1
- Novus Biologicals proteins for ERN1
- Sino Biological Cell Lysates for ERN1
- Sino Biological Recombinant Proteins for ERN1
-
Signalway Proteins for ERN1
-
Abcam proteins for ERN1
Assay Products
- antibodies-online: Show 47 available ERN1 Elisa Kits ranked by validation data
- Compare Top ERN1 Elisa Kits
-
Quality Products:
- ABIN814355
- ABIN418156
- ABIN1569632
- ABIN1114733
- ABIN5524486
- ABIN5594547
- ABIN770750
- ABIN5653844
- ABIN2532931
- ABIN2951336
- ABIN1114735
- ABIN5524487
- ABIN5670201
- ABIN510195
- ABIN2947208
- ABIN5072521
- ABIN1157444
- ABIN1114734
- ABIN5524488
- ABIN5696670
- ABIN5670881
- ABIN771762
- ABIN2947209
- ABIN6228256
- ABIN5073652
- ABIN1053258
- ABIN1561721
- ABIN6228253
Domains & Families for ERN1 Gene
Gene Families for ERN1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ERN1 Gene
- InterPro:
- Blocks:
-
- Bacterial quinoprotein
- PUG
- Ribonuclease 2-5A
- ProtoNet:
Suggested Antigen Peptide Sequences for ERN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Ire1-alpha (ERN1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O75460UniProtKB/Swiss-Prot:
ERN1_HUMAN :- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
- Family:
-
- Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Function for ERN1 Gene
Molecular function for ERN1 Gene
- UniProtKB/Swiss-Prot Function:
- Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11779464, PubMed:11175748, PubMed:12637535, PubMed:9637683, PubMed:21317875). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:24508390, PubMed:21317875). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:24508390, PubMed:21317875). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:21317875, ECO:0000269|PubMed:9637683};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:21317875, ECO:0000269|PubMed:9637683};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- The kinase domain is activated by trans-autophosphorylation following homodimerization (PubMed:12637535, PubMed:9637683). Kinase activity is required for activation of the endoribonuclease domain (PubMed:12637535, PubMed:9637683). Endoribonuclease activity is specifically inhibited by hydroxy-aryl-aldehydes (HAA) (By similarity).
Phenotypes From GWAS Catalog for ERN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IDA | 9637683 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004519 | endonuclease activity | IEA | -- |
| GO:0004521 | endoribonuclease activity | IBA,IDA | 9637683 |
Phenotypes for ERN1 Gene
- MGI mutant phenotypes for ERN1:
-
inferred from 6 alleles
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- digestive/alimentary phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for ERN1:
-
- no effect
- Increased cell death HMECs cells
- Increased G1 DNA content
- Increased epidermal growth factor (EGF) endocytosis
- Decreased Salmonella enterica Typhimurium invasion
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased cell migration
- Increased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased viability after Maraba virus infection
- Decreased viability
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased substrate adherent cell growth
- Increased cell viability after pRB stimulation
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased cell viability after pRB stimulation
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, decreased FA abundance, increased peripheral FA formation, increased cell elongation
Animal Models for ERN1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ERN1 - Select products 50% OFF >
- * ERN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ERN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERN1
miRNA for ERN1 Gene
- miRTarBase miRNAs that target ERN1
-
- hsa-let-7a-5p (MIRT052484)
- hsa-miR-199a-5p (MIRT053104)
- hsa-miR-1291 (MIRT053105)
- hsa-miR-192-3p (MIRT441504)
- hsa-miR-107 (MIRT441505)
- hsa-miR-103a-3p (MIRT441506)
- hsa-miR-219b-3p (MIRT441507)
- hsa-miR-1184 (MIRT441508)
- hsa-miR-451b (MIRT441509)
- hsa-miR-186-5p (MIRT441510)
- hsa-miR-4539 (MIRT526814)
- hsa-miR-7158-3p (MIRT526815)
- hsa-miR-649 (MIRT526816)
- hsa-miR-490-3p (MIRT526817)
- hsa-miR-6749-3p (MIRT615323)
- hsa-miR-4680-5p (MIRT615324)
- hsa-miR-5193 (MIRT615325)
- hsa-miR-4667-3p (MIRT615326)
- hsa-miR-6887-3p (MIRT615327)
- hsa-miR-7157-5p (MIRT615328)
- hsa-miR-4310 (MIRT615329)
- hsa-miR-665 (MIRT703850)
- hsa-miR-1273e (MIRT703851)
- hsa-miR-6771-5p (MIRT703852)
- hsa-miR-7160-5p (MIRT703853)
- hsa-miR-4722-5p (MIRT703854)
- hsa-miR-6884-5p (MIRT703855)
- hsa-miR-485-5p (MIRT703856)
- hsa-miR-1827 (MIRT703857)
- hsa-miR-4649-3p (MIRT703858)
- hsa-miR-6746-5p (MIRT703859)
- hsa-miR-4768-3p (MIRT703860)
- hsa-miR-4478 (MIRT703861)
- hsa-miR-4419b (MIRT703862)
- hsa-miR-3929 (MIRT703863)
- hsa-miR-940 (MIRT703864)
- hsa-miR-6893-5p (MIRT703865)
- hsa-miR-6808-5p (MIRT703866)
- hsa-miR-302f (MIRT703867)
- hsa-miR-6891-5p (MIRT703868)
- hsa-miR-3173-3p (MIRT703869)
- hsa-let-7a-2-3p (MIRT760963)
- hsa-let-7g-3p (MIRT761038)
- hsa-miR-3612 (MIRT765903)
- hsa-miR-4459 (MIRT769261)
- hsa-miR-4687-3p (MIRT771061)
- hsa-miR-4695-5p (MIRT771182)
- hsa-miR-4700-3p (MIRT771289)
- hsa-miR-5582-5p (MIRT774718)
- hsa-miR-650 (MIRT776661)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERN1
- Browse OriGene Inhibitory RNA Products For ERN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN1
Clone Products
- Applied Biological Materials (abm): Clones for ERN1 - Select products 50% OFF >
- * ERN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for ERN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERN1
Cell Line Products
-
Horizon Cell Lines for ERN1
No data available for Human Phenotype Ontology , 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| mitochondrion | 4 |
| nucleus | 4 |
| plasma membrane | 3 |
| extracellular | 3 |
| cytosol | 3 |
| golgi apparatus | 3 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endosome | 2 |
| lysosome | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005637 | nuclear inner membrane | IEA | -- |
| GO:0005737 | cytoplasm | IDA | 19622636 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 23529610 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERN1 Gene
Pathways & Interactions for ERN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Parkinson disease | ||
| 2 | Unfolded Protein Response (UPR) | ||
| 3 | Translational Control | ||
| 4 | Apoptosis Modulation and Signaling |
.31
|
|
| 5 | Autophagy - animal | ||
Pathways by source for ERN1 Gene
4 BioSystems pathways for ERN1 Gene
3 Reactome pathways for ERN1 Gene
8 KEGG pathways for ERN1 Gene
1 Cell Signaling Technology pathway for ERN1 Gene
2 GeneTex pathways for ERN1 Gene
Interacting Proteins for ERN1 Gene
Selected Interacting proteins:
O75460-ERN1_HUMAN
ENSP00000401445
for ERN1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ERN1
SIGNOR curated interactions for ERN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001935 | endothelial cell proliferation | IDA | 23529610 |
| GO:0006379 | mRNA cleavage | ISS | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0006402 | mRNA catabolic process | TAS | 22013210 |
| GO:0006468 | protein phosphorylation | IDA | 9637683 |
Drugs & Compounds for ERN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| N~2~-1H-benzimidazol-5-yl-N~4~-(3-cyclopropyl-1H-pyrazol-5-yl)pyrimidine-2,4-diamine | Experimental | Pharma | Target | 0 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
| APY29 | Pharma | IRE1α inhibitor, Inhibits IRE1alpha autophosphorylation; activates IRE1alpha endoribonuclease activity | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| 4mu8C |
|
14003-96-4 |
|
|
(3) Tocris Compounds for ERN1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 4mu8C | Inhibits IRE1alpha endoribonuclease activity | 14003-96-4 |
| APY 29 | Inhibits IRE1alpha autophosphorylation; activates IRE1alpha endoribonuclease activity | 1216665-49-4 |
| STF 083010 | Inhibits IRE1alpha endonuclease activity | 307543-71-1 |
(3) ApexBio Compounds for ERN1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| 4μ8C | IRE1 Rnase inhibitor, potent and non-toxic | 14003-96-4 |
| APY29 | IRE1α inhibitor | 1216665-49-4 |
| STF 083010 | IRE1α endonuclease inhibitor | 307543-71-1 |
Transcripts for ERN1 Gene
mRNA/cDNA for ERN1 Gene
- 2 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000433197 7895 nts (view in UCSC)
- ENST00000577567 398 nts (view in UCSC)
- ENST00000579249 548 nts (view in UCSC)
- ENST00000583028 523 nts (view in UCSC)
- ENST00000583077 503 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ERN1 - Select products 50% OFF >
- * ERN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ERN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERN1
- Browse OriGene Inhibitory RNA Products For ERN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN1
Clone Products
- Applied Biological Materials (abm): Clones for ERN1 - Select products 50% OFF >
- * ERN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for ERN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERN1
Relevant External Links for ERN1 Gene
- GeneLoc Exon Structure for
- ERN1
Expression 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).
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, MaxQB, and MOPED for ERN1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERN1
SOURCE GeneReport for Unigene cluster for ERN1 Gene:
Hs.700027mRNA Expression by UniProt/SwissProt for ERN1 Gene:
O75460-ERN1_HUMAN
Tissue specificity:
Ubiquitously expressed. High levels observed in pancreatic tissue.
Evidence on tissue expression from TISSUES for ERN1 Gene
- Nervous system(4.7)
- Heart(4.6)
- Blood(4.5)
- Liver(3.5)
- Pancreas(3.3)
- Intestine(3.1)
- Lymph node(2.8)
- Lung(2.8)
- Muscle(2.8)
- Bone marrow(2.7)
- Kidney(2.7)
- Spleen(2.6)
- Skin(2.6)
- Adrenal gland(2.6)
- Stomach(2.5)
- Thyroid gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for ERN1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ERN1 Gene
Orthologs for ERN1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ERN1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ERN1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ern1 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ERN1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ern1 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ERN1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ERN1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ERN1 31 |
|
OneToOne | |
| LOC417414 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | ERN1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ern2 30 |
|
||
| Str.12018 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ern1 31 |
|
OneToOne | |
| ern2 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ire1 30 31 |
|
OneToMany | |
| ire-1 32 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004176 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ire-1 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRE1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5230 31 |
|
OneToOne |
- Species where no ortholog for ERN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ERN1: view image
Paralogs for ERN1 Gene
Variants for ERN1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERN1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711661 | Benign: not provided | 64,049,098(-) | G/A | SYNONYMOUS_VARIANT | |
| 711689 | Benign: not provided | 64,055,698(-) | G/C | MISSENSE_VARIANT | |
| 735286 | Likely Benign: not provided | 64,055,784(-) | C/T | SYNONYMOUS_VARIANT | |
| 740269 | Likely Benign: not provided | 64,072,063(-) | G/A | SYNONYMOUS_VARIANT | |
| rs1279653488 | An ovarian serous carcinoma sample | p.Pro830Leu |
Residual Variation Intolerance Score:
47.5% 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)
Additional Variant Information for ERN1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ERN1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERN1 Gene
Disorders for ERN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| arrhythmogenic right ventricular dysplasia, familial, 5 |
|
|
| epiphyseal dysplasia, multiple, with early-onset diabetes mellitus |
|
|
| non-alcoholic fatty liver disease |
|
|
| arrhythmogenic right ventricular dysplasia, familial, 9 |
|
|
| alzheimer disease |
|
|
Search ERN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ERN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ERN1 Gene
Publications for ERN1 Gene
- 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 RJ (Genes & development 1998) 2 3 4 23
- Structure and intermolecular interactions of the luminal dimerization domain of human IRE1alpha. (PMID: 12637535) Liu CY … Kaufman RJ (The Journal of biological chemistry 2003) 3 4 23
- 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. (PMID: 11278723) Yoneda T … Tohyama M (The Journal of biological chemistry 2001) 3 4 23
- A J-Protein Co-chaperone Recruits BiP to Monomerize IRE1 and Repress the Unfolded Protein Response. (PMID: 29198525) Amin-Wetzel N … Ron D (Cell 2017) 3 4
- RNF13, a RING finger protein, mediates endoplasmic reticulum stress-induced apoptosis through the inositol-requiring enzyme (IRE1α)/c-Jun NH2-terminal kinase pathway. (PMID: 23378536) Arshad M … Li P (The Journal of biological chemistry 2013) 3 4
ExternalLinks
Products for ERN1 Gene
- Custom Antibody ServicesOriGene Antibodies for ERN1
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- High-throughput Antibody Production Service
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- Invitrogen Antibodies for ERN1 (AFLGC-ERN1)
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- Addgene plasmids for ERN1
- antibodies-online: Show 50 available ERN1 Antibodies ranked by validation data
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- 170 WB Antibodies (anti-human)
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- 1 IHC Antibody (anti-human)
- 99 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 67 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
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- ABIN2532931
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- ABIN510195
- ABIN2947208
- ABIN5072521
- ABIN1157444
- ABIN1114734
- ABIN5524488
- ABIN5696670
- ABIN5670881
- ABIN771762
- ABIN2947209
- ABIN6228256
- ABIN5073652
- ABIN1053258
- ABIN1561721
- ABIN6228253
- antibodies-online: Show 17 available ERN1 Proteins ranked by validation data
- Compare Top ERN1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for ERN1
- Search Santa Cruz Biotechnology (SCBT) for ERN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ERN1
- Horizon Cell Lines for ERN1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERN1
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN1
Sources for ERN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (84) COMPARTMENTS
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