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ERN1 (endoplasmic reticulum to nucleus signaling 1)

Identity

Alias_namesER to nucleus signalling 1
Alias_symbol (synonym)IRE1
IRE1P
Other aliasIRE1a
hIRE1p
HGNC (Hugo) ERN1
LocusID (NCBI) 2081
Atlas_Id 43247
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 64043030 and ends at 64130142 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERN1 (17q23.3) / DDX42 (17q23.3)ERN1 (17q23.3) / SMURF2 (17q23.3)ERN1 (17q23.3) / TBXA2R (19p13.3)
FLNB (3p14.3) / ERN1 (17q23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ERN1   3449
Cards
Entrez_Gene (NCBI)ERN1  2081  endoplasmic reticulum to nucleus signaling 1
AliasesIRE1; IRE1P; IRE1a; hIRE1p
GeneCards (Weizmann)ERN1
Ensembl hg19 (Hinxton)ENSG00000178607 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000178607 [Gene_View]  chr17:64043030-64130142 [Contig_View]  ERN1 [Vega]
ICGC DataPortalENSG00000178607
TCGA cBioPortalERN1
AceView (NCBI)ERN1
Genatlas (Paris)ERN1
WikiGenes2081
SOURCE (Princeton)ERN1
Genetics Home Reference (NIH)ERN1
Genomic and cartography
GoldenPath hg38 (UCSC)ERN1  -     chr17:64043030-64130142 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERN1  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblERN1 - 17q23.3 [CytoView hg19]  ERN1 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIERN1 [Mapview hg19]  ERN1 [Mapview hg38]
OMIM604033   
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 : UnigeneHs.744953 [ NCBI ]
CGAP (NCI)Hs.744953
Alternative Splicing GalleryENSG00000178607
Gene ExpressionERN1 [ 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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2081
GTEX Portal (Tissue expression)ERN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75460   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75460  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75460
Splice isoforms : SwissVarO75460
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusO75460
Domaine pattern : Prosite (Expaxy)KEN (PS51392)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)KEN_dom    Kinase-like_dom    PQQ_beta_propeller_repeat    Prot_kinase_dom    PUB_domain    Quinoprotein_ADH-like_fam    Quinoprotein_ADH-like_supfam    Ser/Thr_kinase_AS   
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 mutations2081
Blocks (Seattle)ERN1
PDB (SRS)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   
PDB (RSDB)2HZ6    3P23    4U6R    4YZ9    4YZC    4YZD    4Z7G    4Z7H    5HGI   
Structural Biology KnowledgeBase2HZ6    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   
SuperfamilyO75460
Human Protein AtlasENSG00000178607
Peptide AtlasO75460
HPRD04943
IPIIPI00015974   IPI00873219   IPI00061055   
Protein Interaction databases
DIP (DOE-UCLA)O75460
IntAct (EBI)O75460
FunCoupENSG00000178607
BioGRIDERN1
STRING (EMBL)ERN1
ZODIACERN1
Ontologies - Pathways
QuickGOO75460
Ontology : AmiGOmagnesium ion binding  endothelial cell proliferation  endoribonuclease activity  endoribonuclease 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  transcription, DNA-templated  regulation of transcription, DNA-templated  mRNA cleavage  mRNA catabolic process  protein phosphorylation  activation of signaling protein activity involved in unfolded protein response  cell cycle arrest  activation of JUN kinase activity  regulation of macroautophagy  enzyme binding  integral component of endoplasmic reticulum membrane  Hsp70 protein binding  positive regulation of RNA splicing  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  identical protein binding  protein homodimerization activity  ADP binding  protein autophosphorylation  Hsp90 protein binding  mRNA splicing, via endonucleolytic cleavage and ligation  mRNA endonucleolytic cleavage involved in unfolded protein response  mRNA endonucleolytic cleavage involved in unfolded protein response  mRNA endonucleolytic cleavage involved in unfolded protein response  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cellular response to glucose stimulus  RNA phosphodiester bond hydrolysis, endonucleolytic  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-RACK1-PP2A complex  
Ontology : EGO-EBImagnesium ion binding  endothelial cell proliferation  endoribonuclease activity  endoribonuclease 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  transcription, DNA-templated  regulation of transcription, DNA-templated  mRNA cleavage  mRNA catabolic process  protein phosphorylation  activation of signaling protein activity involved in unfolded protein response  cell cycle arrest  activation of JUN kinase activity  regulation of macroautophagy  enzyme binding  integral component of endoplasmic reticulum membrane  Hsp70 protein binding  positive regulation of RNA splicing  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  identical protein binding  protein homodimerization activity  ADP binding  protein autophosphorylation  Hsp90 protein binding  mRNA splicing, via endonucleolytic cleavage and ligation  mRNA endonucleolytic cleavage involved in unfolded protein response  mRNA endonucleolytic cleavage involved in unfolded protein response  mRNA endonucleolytic cleavage involved in unfolded protein response  intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress  cellular response to glucose stimulus  RNA phosphodiester bond hydrolysis, endonucleolytic  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-RACK1-PP2A complex  
Pathways : KEGGProtein processing in endoplasmic reticulum    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease   
NDEx NetworkERN1
Atlas of Cancer Signalling NetworkERN1
Wikipedia pathwaysERN1
Orthology - Evolution
OrthoDB2081
GeneTree (enSembl)ENSG00000178607
Phylogenetic Trees/Animal Genes : TreeFamERN1
HOVERGENO75460
HOGENOMO75460
Homologs : HomoloGeneERN1
Homology/Alignments : Family Browser (UCSC)ERN1
Gene fusions - Rearrangements
Fusion : MitelmanERN1/DDX42 [17q23.3/17q23.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERN1
dbVarERN1
ClinVarERN1
1000_GenomesERN1 
Exome Variant ServerERN1
ExAC (Exome Aggregation Consortium)ERN1 (select the gene name)
Genetic variants : HAPMAP2081
Genomic Variants (DGV)ERN1 [DGVbeta]
DECIPHERERN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERN1 
Mutations
ICGC Data PortalERN1 
TCGA Data PortalERN1 
Broad Tumor PortalERN1
OASIS PortalERN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDERN1
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
BioMutasearch 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)
intoGenERN1
Cancer3DERN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604033   
Orphanet
MedgenERN1
Genetic Testing Registry ERN1
NextProtO75460 [Medical]
TSGene2081
GENETestsERN1
Huge Navigator ERN1 [HugePedia]
snp3D : Map Gene to Disease2081
BioCentury BCIQERN1
ClinGenERN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2081
Chemical/Pharm GKB GenePA27861
Clinical trialERN1
Miscellaneous
canSAR (ICR)ERN1 (select the gene name)
Probes
Litterature
PubMed146 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERN1
EVEXERN1
GoPubMedERN1
iHOPERN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:14:56 CEST 2017

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