| Nomenclature |
|---|
| HGNC (Hugo) | ERN1 3449 |
| Cards |
|---|
| Entrez_Gene (NCBI) | ERN1 2081 endoplasmic reticulum to nucleus signaling 1 |
| Aliases | IRE1; IRE1P; IRE1a; hIRE1p |
| GeneCards (Weizmann) | ERN1 |
| Ensembl hg19 (Hinxton) | ENSG00000178607 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000178607 [Gene_View] ENSG00000178607 [Sequence] chr17:64039142-64130142 [Contig_View] ERN1 [Vega] |
| ICGC DataPortal | ENSG00000178607 |
| TCGA cBioPortal | ERN1 |
| AceView (NCBI) | ERN1 |
| Genatlas (Paris) | ERN1 |
| WikiGenes | 2081 |
| SOURCE (Princeton) | ERN1 |
| Genetics Home Reference (NIH) | ERN1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | ERN1 - chr17:64039142-64130142 - 17q23.3 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | ERN1 - 17q23.3 [Description] (hg19-Feb_2009) |
| GoldenPath | ERN1 - 17q23.3 [CytoView hg19] ERN1 - 17q23.3 [CytoView hg38] |
| ImmunoBase | ENSG00000178607 |
| Mapping of homologs : NCBI | ERN1 [Mapview hg19] ERN1 [Mapview hg38] |
| OMIM | 604033 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AB209869 AF059198 AI791744 AI792619 AK055561 |
| RefSeq transcript (Entrez) | NM_001433 NM_152461 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | ERN1 |
| Cluster EST : Unigene | Hs.744953 [ NCBI ] |
| CGAP (NCI) | Hs.744953 |
| Alternative Splicing Gallery | ENSG00000178607 |
| Gene Expression | ERN1 [ NCBI-GEO ] ERN1 [ EBI - ARRAY_EXPRESS ]
ERN1 [ SEEK ] ERN1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | ERN1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 2081 |
| GTEX Portal (Tissue expression) | ERN1 |
| Human Protein Atlas | ENSG00000178607-ERN1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O75460 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | O75460 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O75460 |
| Splice isoforms : SwissVar | O75460 |
| Catalytic activity : Enzyme | 3.1.26.-|2.7.11.1 [ Enzyme-Expasy ] 3.1.26.-|2.7.11.13.1.26.-|2.7.11.1 [ IntEnz-EBI ] 3.1.26.-|2.7.11.1 [ BRENDA ] 3.1.26.-|2.7.11.1 [ KEGG ] |
| PhosPhoSitePlus | O75460 |
| Domaine pattern : Prosite (Expaxy) | KEN (PS51392) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108) |
| Domains : Interpro (EBI) | KEN_dom KEN_sf Kinase-like_dom_sf PQQ_beta_propeller_repeat Prot_kinase_dom PUB_domain Quinoprotein_ADH-like_supfam Ser/Thr_kinase_AS WD40/YVTN_repeat-like_dom_sf |
| Domain families : Pfam (Sanger) | Pkinase (PF00069) Ribonuc_2-5A (PF06479) |
| Domain families : Pfam (NCBI) | pfam00069 pfam06479 |
| Domain families : Smart (EMBL) | PQQ (SM00564) PUG (SM00580) S_TKc (SM00220) |
| Conserved Domain (NCBI) | ERN1 |
| DMDM Disease mutations | 2081 |
| Blocks (Seattle) | ERN1 |
| PDB (RSDB) | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| PDB Europe | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| PDB (PDBSum) | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| PDB (IMB) | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| Structural Biology KnowledgeBase | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| SCOP (Structural Classification of Proteins) | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| CATH (Classification of proteins structures) | 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI |
| Superfamily | O75460 |
| Human Protein Atlas [tissue] | ENSG00000178607-ERN1 [tissue] |
| Peptide Atlas | O75460 |
| HPRD | 04943 |
| IPI | IPI00015974 IPI00873219 IPI00061055 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O75460 |
| IntAct (EBI) | O75460 |
| FunCoup | ENSG00000178607 |
| BioGRID | ERN1 |
| STRING (EMBL) | ERN1 |
| ZODIAC | ERN1 |
| Ontologies - Pathways |
|---|
| QuickGO | O75460 |
| Ontology : AmiGO | magnesium ion binding endothelial cell proliferation endoribonuclease activity endoribonuclease activity protein kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity platelet-derived growth factor receptor binding protein binding ATP binding nuclear inner membrane cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane mRNA cleavage mRNA catabolic process protein phosphorylation cell cycle arrest activation of JUN kinase activity regulation of macroautophagy enzyme binding integral component of endoplasmic reticulum membrane Hsp70 protein binding endoplasmic reticulum unfolded protein response positive regulation of RNA splicing cellular response to unfolded protein cellular response to unfolded protein response to endoplasmic reticulum stress cellular response to vascular endothelial growth factor stimulus peptidyl-serine autophosphorylation IRE1-mediated unfolded protein response IRE1-mediated unfolded protein response IRE1-mediated unfolded protein response identical protein binding protein homodimerization activity protein homodimerization activity ADP binding protein autophosphorylation unfolded protein binding Hsp90 protein binding mRNA splicing, via endonucleolytic cleavage and ligation mRNA splicing, via endonucleolytic cleavage and ligation mRNA splicing, via endonucleolytic cleavage and ligation intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress cellular response to glucose stimulus RNA phosphodiester bond hydrolysis, endonucleolytic mRNA cleavage involved in mRNA processing positive regulation of endoplasmic reticulum unfolded protein response insulin metabolic process positive regulation of vascular smooth muscle cell proliferation Ire1 complex peptidyl-serine trans-autophosphorylation AIP1-IRE1 complex IRE1-TRAF2-ASK1 complex IRE1-TRAF2-ASK1 complex IRE1-RACK1-PP2A complex |
| Ontology : EGO-EBI | magnesium ion binding endothelial cell proliferation endoribonuclease activity endoribonuclease activity protein kinase activity protein serine/threonine kinase activity protein serine/threonine kinase activity platelet-derived growth factor receptor binding protein binding ATP binding nuclear inner membrane cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane mRNA cleavage mRNA catabolic process protein phosphorylation cell cycle arrest activation of JUN kinase activity regulation of macroautophagy enzyme binding integral component of endoplasmic reticulum membrane Hsp70 protein binding endoplasmic reticulum unfolded protein response positive regulation of RNA splicing cellular response to unfolded protein cellular response to unfolded protein response to endoplasmic reticulum stress cellular response to vascular endothelial growth factor stimulus peptidyl-serine autophosphorylation IRE1-mediated unfolded protein response IRE1-mediated unfolded protein response IRE1-mediated unfolded protein response identical protein binding protein homodimerization activity protein homodimerization activity ADP binding protein autophosphorylation unfolded protein binding Hsp90 protein binding mRNA splicing, via endonucleolytic cleavage and ligation mRNA splicing, via endonucleolytic cleavage and ligation mRNA splicing, via endonucleolytic cleavage and ligation intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress cellular response to glucose stimulus RNA phosphodiester bond hydrolysis, endonucleolytic mRNA cleavage involved in mRNA processing positive regulation of endoplasmic reticulum unfolded protein response insulin metabolic process positive regulation of vascular smooth muscle cell proliferation Ire1 complex peptidyl-serine trans-autophosphorylation AIP1-IRE1 complex IRE1-TRAF2-ASK1 complex IRE1-TRAF2-ASK1 complex IRE1-RACK1-PP2A complex |
| Pathways : KEGG | Protein processing in endoplasmic reticulum Non-alcoholic fatty liver disease (NAFLD) Alzheimer's disease |
| NDEx Network | ERN1 |
| Atlas of Cancer Signalling Network | ERN1 |
| Wikipedia pathways | ERN1 |
| Orthology - Evolution |
|---|
| OrthoDB | 2081 |
| GeneTree (enSembl) | ENSG00000178607 |
| Phylogenetic Trees/Animal Genes : TreeFam | ERN1 |
| HOGENOM | O75460 |
| Homologs : HomoloGene | ERN1 |
| Homology/Alignments : Family Browser (UCSC) | ERN1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | ERN1/DDX42 [17q23.3/17q23.3] |
| Fusion : Quiver | ERN1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | ERN1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | ERN1 |
| dbVar | ERN1 |
| ClinVar | ERN1 |
| 1000_Genomes | ERN1 |
| Exome Variant Server | ERN1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000178607 |
| GNOMAD Browser | ENSG00000178607 |
| Varsome Browser | ERN1 |
| Genetic variants : HAPMAP | 2081 |
| Genomic Variants (DGV) | ERN1 [DGVbeta] |
| DECIPHER | ERN1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | ERN1 |
| Mutations |
|---|
| ICGC Data Portal | ERN1 |
| TCGA Data Portal | ERN1 |
| Broad Tumor Portal | ERN1 |
| OASIS Portal | ERN1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | ERN1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | ERN1 |
| Mutations and Diseases : HGMD | ERN1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search ERN1 |
| DgiDB (Drug Gene Interaction Database) | ERN1 |
| DoCM (Curated mutations) | ERN1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | ERN1 (select a term) |
| intoGen | ERN1 |
| Cancer3D | ERN1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 604033 |
| Orphanet | |
| DisGeNET | ERN1 |
| Medgen | ERN1 |
| Genetic Testing Registry | ERN1
|
| NextProt | O75460 [Medical] |
| TSGene | 2081 |
| GENETests | ERN1 |
| Target Validation | ERN1 |
| Huge Navigator |
ERN1 [HugePedia] |
| snp3D : Map Gene to Disease | 2081 |
| BioCentury BCIQ | ERN1 |
| ClinGen | ERN1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 2081 |
| Chemical/Pharm GKB Gene | PA27861 |
| Clinical trial | ERN1 |
| Miscellaneous |
|---|
| canSAR (ICR) | ERN1 (select the gene name) |
| DataMed Index | ERN1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 202 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | ERN1 |
| EVEX | ERN1 |
| GoPubMed | ERN1 |
| iHOP | ERN1 |
