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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Protein processing in endoplasmic reticulum. 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
-
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).
-
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:
-
- ATF6
- Nkx2-2
- HSF1 (long)
- Pax-2
- Pax-2a
- HSF1short
- POU6F1 (c2)
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)
- 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 Entrez Gene
- 17q23.3 by HGNC
- 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).
Three dimensional structures from OCA and Proteopedia for ERN1 Gene
Protein Expression for ERN1 Gene
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 isoforms=176
- 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
- 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 Recombinant Proteins for ERN1
- Sino Biological Cell Lysates for ERN1
- Search GeneTex for Proteins for ERN1
-
Abcam proteins for ERN1
Assay Products
No data available for DME Specific Peptides for ERN1 Gene
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 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).
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + a protein = ADP + a phosphoprotein.
- 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: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
- cardiovascular system phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- integument phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- embryo phenotype
- normal phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ERN1:
-
- Decreased substrate adherent cell growth
- Increased G1 DNA content
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Increased cell death HMECs cells
- Decreased Salmonella enterica Typhimurium invasion
- Decreased cell migration
- Increased cell viability after pRB stimulation
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability after Maraba virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
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
-
CRISPR Products
-
OriGene CRISPR knockouts for ERN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
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
- genomics-online: shRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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
No data available for Enzyme Numbers (IUBMB) , 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 | IEA,IDA | 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:
O75460-ERN1_HUMAN
ENSP00000401445
for ERN1 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for ERN1
| 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:0006397 | mRNA processing | IEA | -- |
| GO:0006402 | mRNA catabolic process | TAS | 22013210 |
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 |
|---|---|---|---|---|---|---|
| fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
| 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, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 | ||
| APY29 | Pharma | IRE1α inhibitor, Inhibits IRE1alpha autophosphorylation; activates IRE1alpha endoribonuclease activity | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 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 :
-
- ENST00000433197 7876 bps (uc002jdz.3)
- ENST00000583077 503 bps (uc060iue.1)
- ENST00000583896 571 bps (uc060iuf.1)
- ENST00000579249 548 bps (uc060iug.1)
- ENST00000577567 398 bps (uc060iuh.1)
Unigene Clusters for ERN1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ERN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
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
- genomics-online: shRNA clones - Search results for 79 available ERN1 gene related products
- Overview of 79 available ERN1 gene related products
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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, 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(2.2)
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ERN1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ern1 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | ERN1 34 33 |
|
OneToOne | |
| 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 34 33 |
|
OneToMany | |
| ire-1 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004176 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | ire-1 34 33 |
|
OneToMany | |
| 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)
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
| 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
- 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 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
Products for ERN1 Gene
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- Custom Antibody ServicesOriGene Antibodies for ERN1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ERN1
- GenScript: Next-day shipping of latest version cDNA ORF clones for ERN1 in any vector
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- GenScript: Design CRISPR guide RNA sequences for ERN1
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- CloneReady with Over 120,000 Genes
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- Gene Mutant Library, Variants up to 10^11
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- 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
- Compare Top ERN1 Elisa Kits
- 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
- 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
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERN1
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- GeneCopoeia miRNA 3'UTR Target clone products for ERN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERN1
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
- (117) UMLS
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- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
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- (131) VISTA
- (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
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt