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 Chromosome 6Pter-P24 Deletion Syndrome and Alzheimer Disease. Among its related pathways are Protein processing in endoplasmic reticulum and Unfolded Protein Response (UPR). 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 for ERN1 Gene
-
Senses unfolded proteins in the lumen of the endoplasmic reticulum via its N-terminal domain which leads to enzyme auto-activation (PubMed:9637683, PubMed:11175748, PubMed:12637535). 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 (PubMed:24508390).
-
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
- Monarch Initiative
- Search for ERN1 at DataMed
- Search for ERN1 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERN1 Gene
Genomics for ERN1 Gene
GeneHancer (GH) Regulatory Elements for ERN1 Gene
Promoters and enhancers for ERN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ERN1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ERN1 gene promoter:
Regulatory Element Products
Genomic Locations for ERN1 Gene
Genomic Locations for ERN1 Gene
- chr17:64,039,142-64,130,819
- (GRCh38/hg38)
- Size:
- 91,678 bases
- Orientation:
- Minus strand
- chr17:62,116,502-62,208,179
- (GRCh37/hg19)
Genomic View for ERN1 Gene
Genes around ERN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.3 by Ensembl
- 17q23.3 by Entrez Gene
- 17q23.3 by HGNC
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:
-
- 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 (PubMed:12637535). Dimer formation is driven by hydrophobic interactions within the N-terminal luminal domains and stabilized by disulfide bridges (PubMed:12637535). In response to ER stress, may form dimers and multimers (PubMed:24508390). Also binds HSPA5, a negative regulator of the unfolded protein response (UPR) (PubMed:12637535). Interacts with PDIA6, a negative regulator of the UPR; the interaction is direct (PubMed:24508390). Both interactions with HSPA5 and PDIA6 may disrupt homodimerization and prevent activation of ERN1 (PubMed:12637535, PubMed:24508390). Interacts with TAOK3 and TRAF2 (PubMed:11278723).
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
- ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities.
- Autophosphorylated.
- Glycosylation at posLast=176176
- Modification sites at PhosphoSitePlus
Other Protein References for ERN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ERN1
- Novus Biologicals Antibodies for ERN1
-
Abcam antibodies for ERN1
-
Cloud-Clone Corp. Antibodies for ERN1
- Invitrogen Antibodies for ERN1
- GeneTex ERN1 antibody for ERN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERN1
- Sino Biological Antibodies for ERN1
Protein Products
-
OriGene Purified Proteins for ERN1
- Search Origene for MassSpec and Protein Over-expression Lysates for ERN1
- Origene Custom Protein Services for ERN1
- Sino Biological Cell Lysates for ERN1
- Sino Biological Recombinant Proteins for ERN1
-
Cloud-Clone Corp. Proteins for ERN1
- Search GeneTex for Proteins for ERN1
-
Abcam proteins for ERN1
Assay Products
-
Cloud-Clone Corp. Assay Kits for ERN1
Domains & Families for ERN1 Gene
Gene Families for ERN1 Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for ERN1 Gene
Suggested Antigen Peptide Sequences for ERN1 Gene
- GenScript: Design optimal peptide antigens:
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 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 (PubMed:9637683, PubMed:11175748, PubMed:12637535). 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 (PubMed:24508390).
Phenotypes From GWAS Catalog for ERN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000287 | magnesium ion binding | IDA | 9637683 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004519 | endonuclease activity | IEA | -- |
| GO:0004521 | endoribonuclease activity | TAS | -- |
| GO:0004540 | ribonuclease activity | IEA | -- |
Phenotypes for ERN1 Gene
- MGI mutant phenotypes for ERN1:
-
inferred from 6 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for ERN1:
-
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Decreased viability after Maraba virus infection
- Increased G1 DNA content
- Decreased viability
- Decreased substrate adherent cell growth
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased Salmonella enterica Typhimurium invasion
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Decreased cell migration
- Increased cell death HMECs cells
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased cell viability after pRB stimulation
Animal Models for ERN1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERN1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ERN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ERN1 gene
- Search ViGene Biosciences for ERN1
CRISPR Products
-
OriGene CRISPR knockouts for ERN1
- genomics-online: gRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- Applied Biological Materials CRISPR for ERN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERN1
- GenScript: Design CRISPR guide RNA sequences 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
- Search ViGene Biosciences for ERN1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ERN1
- Browse OriGene Inhibitory RNA Products For ERN1
- genomics-online: shRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ERN1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ERN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ERN1
- Applied Biological Materials Clones for ERN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ERN1
-
ViGene Biosciences adenoviral particle packaged cDNA for ERN1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ERN1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ERN1 gene
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 | 3 |
| nucleus | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| 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,IEA | 23529610 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERN1 Gene
Pathways & Interactions for ERN1 Gene
Pathways by source for ERN1 Gene
2 GeneTex pathways for ERN1 Gene
4 BioSystems pathways for ERN1 Gene
3 Reactome pathways for ERN1 Gene
5 KEGG pathways for ERN1 Gene
1 Cell Signaling Technology pathway for ERN1 Gene
Interacting Proteins for ERN1 Gene
Selected Interacting proteins:
ENSP00000401445
O75460-ERN1_HUMAN
for ERN1 Gene via
STRING
MINT
IID
UniProtKB
| 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 | IEA | -- |
No data available for SIGNOR curated interactions for ERN1 Gene
Drugs & Compounds for ERN1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Magnesium | 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 | ||
| ATP | Investigational | Nutra | Agonist | 0 | ||
| APY29 | Pharma | IRE1α inhibitor, Inhibits IRE1alpha autophosphorylation; activates IRE1alpha endoribonuclease activity | 0 | |||
| STF 083010 | Pharma | IRE1α endonuclease inhibitor, Inhibits IRE1alpha endonuclease activity | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 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
- (4) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (97) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ERN1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ERN1
- genomics-online: gRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- Applied Biological Materials CRISPR for ERN1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERN1
- GenScript: Design CRISPR guide RNA sequences for ERN1
miRNA Products
- Search ViGene Biosciences for ERN1
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for ERN1
- Browse OriGene Inhibitory RNA Products For ERN1
- genomics-online: shRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ERN1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for ERN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERN1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ERN1
- Applied Biological Materials Clones for ERN1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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, PaxDb, MaxQB, and MOPED for ERN1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ERN1 Gene:
ERN1SOURCE 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(4.5)
- Heart(4.4)
- Blood(4.2)
- Liver(2.7)
- Pancreas(2.3)
- Intestine(2.1)
Primer Products
-
OriGene qPCR primer pairs for ERN1
- genomics-online: primer clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ERN1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ern1 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ERN1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ern1 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ERN1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ERN1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ERN1 34 |
|
OneToOne | |
| LOC417414 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | ERN1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ern2 33 |
|
||
| Str.12018 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | ern1 34 |
|
OneToOne | |
| ern2 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Ire1 33 34 |
|
||
| ire-1 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004176 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ire-1 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IRE1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5230 34 |
|
OneToOne |
- Species where no ortholog for ERN1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for ERN1 Gene
Variants for ERN1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146710304 | A gastric adenocarcinoma sample | 64,054,300(-) | G/A/T | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs186305118 | A lung adenocarcinoma sample | 64,055,926(-) | A/C | coding_sequence_variant, missense_variant | |
| VAR_040488 | A renal clear cell carcinoma sample | p.Asn244Ser | |||
| VAR_040493 | A glioblastoma multiforme sample | p.Ser769Phe | |||
| VAR_040494 | 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 |
|---|---|---|
| chromosome 6pter-p24 deletion syndrome |
|
|
| alzheimer disease |
|
|
| usher syndrome, type iic |
|
|
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
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 22 58
- 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 22 58
- 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 22 58
- PARP16 is a tail-anchored endoplasmic reticulum protein required for the PERK- and IRE1α-mediated unfolded protein response. (PMID: 23103912) Jwa M … Chang P (Nature cell biology 2012) 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
Products for ERN1 Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody ServicesOriGene Antibodies for ERN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ERN1
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- GenScript: Next-day shipping of latest version cDNA ORF clones for ERN1 in any vector
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for ERN1
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- Cloud-Clone Corp. Antibodies for ERN1
- Cloud-Clone Corp. Proteins for ERN1
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- Browse Knockouts at Cloud-Clone Corp.
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- ApexBio compounds for ERN1
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERN1
- VectorBuilder custom plasmid, inducible vectors for ERN1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERN1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for ERN1
- antibodies-online: Search results for 210 available ERN1 Antibodies ranked by validation data
- Compare Top ERN1 Antibodies
- antibodies-online: Search results for 36 available ERN1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 15 available ERN1 Proteins ranked by validation data
- Compare Top ERN1 Proteins
- GeneTex ERN1 antibody for ERN1
- Search GeneTex for Proteins for ERN1
- ViGene Biosciences adenoviral particle packaged cDNA for ERN1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ERN1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ERN1 gene
- Search ViGene Biosciences for ERN1
- 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
- genomics-online: cdna clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- orf clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- genomics-online: gRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- genomics-online: primer clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
- genomics-online: shRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
Sources for ERN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
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- (119) Disease Ontology
- (120) Genetics Home Reference
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- (123) CDC
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- (125) NCBI Bookshelf
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- (128) ViGene Biosciences
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems