ERN1 Gene (Protein Coding)

Endoplasmic Reticulum To Nucleus Signaling 1

GC17M064039
GIFtS:
48
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

  • Endoplasmic Reticulum To Nucleus Signaling 1 2 3 5
  • Serine/Threonine-Protein Kinase/Endoribonuclease IRE1 2 3 4
  • Inositol-Requiring Protein 1 3 4
  • Inositol-Requiring Enzyme 1 2 3
  • ER To Nucleus Signalling 1 2 3
  • Ire1-Alpha 3 4
  • HIRE1p 3 4
  • IRE1a 3 4
  • IRE1 3 4
  • Endoplasmic Reticulum-To-Nucleus Signaling 1 4
  • Protein Kinase/Endoribonuclease 3
  • Inositol-Requiring 1 3
  • EC 2.7.11 54
  • IRE1P 3

External Ids for ERN1 Gene

Previous GeneCards Identifiers for ERN1 Gene

  • GC17M061758
  • GC17M064547
  • GC17M062461
  • GC17M062594
  • GC17M062582
  • GC17M059474
  • GC17M062120
  • GC17M057488
  • GC17M062122

Summaries for ERN1 Gene

Entrez Gene Summary 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 Marinesco-Sjogren Syndrome. Among its related pathways are Photodynamic therapy-induced unfolded protein response and Apoptosis-related network due to altered Notch3 in ovarian cancer. 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).

Tocris Summary for ERN1 Gene

  • 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).

Gene Wiki entry for ERN1 Gene

Additional gene information for ERN1 Gene

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 for ERN1 Gene

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 UCSC Golden Path with GeneCards custom track

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
chr17:64,039,142-64,130,819
(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:
ERN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ERN1 Gene

Proteins for ERN1 Gene

Products:

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  • Protein details for ERN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75460-ERN1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase/endoribonuclease IRE1
    Protein Accession:
    O75460
    Secondary Accessions:
    • 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

    Alternative splice isoforms for ERN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERN1 Gene

Protein Expression for ERN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Modification sites at PhosphoSitePlus

Other Protein References for ERN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ERN1

Domains & Families for ERN1 Gene

Gene Families for ERN1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ERN1 Gene

Blocks:
InterPro:
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

O75460

UniProtKB/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.
genes like me logo Genes that share domains with ERN1: view

Function for ERN1 Gene

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  2. CRISPR
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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).

Enzyme Numbers (IUBMB) for ERN1 Gene

Phenotypes From GWAS Catalog for ERN1 Gene

Gene Ontology (GO) - Molecular Function 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 IBA,IDA 9637683
GO:0004540 ribonuclease activity IEA --
genes like me logo Genes that share ontologies with ERN1: view
genes like me logo Genes that share phenotypes with ERN1: view

Animal Models for ERN1 Gene

MGI Knock Outs for ERN1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERN1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
cytosol 1
lysosome 1
peroxisome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for ERN1 Gene

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 --
genes like me logo Genes that share ontologies with ERN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERN1 Gene

Pathways & Interactions for ERN1 Gene

genes like me logo Genes that share pathways with ERN1: view

SIGNOR curated interactions for ERN1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with ERN1: view

Drugs & Compounds for ERN1 Gene

Products:

  1. Drug

(16) Drugs for ERN1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

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, Full agonist, Antagonist, Pore Blocker, Potentiation 0
APY29 Pharma IRE1α inhibitor, Inhibits IRE1alpha autophosphorylation; activates IRE1alpha endoribonuclease activity 0

(4) Additional Compounds for ERN1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 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
genes like me logo Genes that share compounds with ERN1: view

Transcripts for ERN1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ERN1 Gene

(2) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(97) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ERN1

Alternative Splicing Database (ASD) splice patterns (SP) for ERN1 Gene

No ASD Table

Relevant External Links for ERN1 Gene

GeneLoc Exon Structure for
ERN1
ECgene alternative splicing isoforms for
ERN1

Expression for ERN1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERN1 Gene

mRNA expression in normal human tissues for ERN1 Gene
mRNA expression by GTEx for ERN1 GenemRNA expression by BioGPS 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).

Protein differential expression in normal tissues from HIPED for ERN1 Gene

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:

ERN1

SOURCE GeneReport for Unigene cluster for ERN1 Gene:

Hs.700027

mRNA 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)
genes like me logo Genes that share expression patterns with ERN1: view

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.

Orthologs for ERN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ERN1 33 32
  • 99.49 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ERN1 33 32
  • 90.67 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ern1 17 33 32
  • 89.08 (n)
cow
(Bos Taurus)
 Mammalia ERN1 33 32
  • 88.81 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ern1 32
  • 88.67 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ERN1 33
  • 87 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ERN1 33
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ERN1 33
  • 80 (a)
 OneToOne
LOC417414 32
  • 76.63 (n)
lizard
(Anolis carolinensis)
 Reptilia ERN1 33
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ern2 32
  • 61.83 (n)
Str.12018 32
zebrafish
(Danio rerio)
 Actinopterygii ern1 33
  • 67 (a)
 OneToOne
ern2 32
  • 61.25 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Ire1 33 32
  • 56.21 (n)
 OneToMany
ire-1 34
  • 53 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004176 32
  • 53.63 (n)
worm
(Caenorhabditis elegans)
 Secernentea ire-1 33 32
  • 51.29 (n)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IRE1 33
  • 22 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5230 33
  • 15 (a)
 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

Paralogs for ERN1 Gene

(2) SIMAP similar genes for ERN1 Gene using alignment to 1 proteins:

  • ERN1_HUMAN
genes like me logo Genes that share paralogs with ERN1: view

Variants for ERN1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ERN1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1279653488 An ovarian serous carcinoma sample 64,047,898(-) G/A coding_sequence_variant, missense_variant
rs1397145500 A renal clear cell carcinoma sample 64,066,782(-) T/C coding_sequence_variant, missense_variant
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_040493 A glioblastoma multiforme sample p.Ser769Phe

Structural Variations from Database of Genomic Variants (DGV) for ERN1 Gene

Variant ID Type Subtype PubMed ID
nsv1126467 CNV deletion 24896259
nsv483108 CNV loss 15286789
nsv833511 CNV loss 17160897

Variation tolerance for ERN1 Gene

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

MalaCards: The human disease database

(4) MalaCards diseases for ERN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 6pter-p24 deletion syndrome
  • 6p subtelomeric deletion syndrome
marinesco-sjogren syndrome
  • mss
alzheimer disease
  • ad
usher syndrome, type iic
  • ush2c
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with ERN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERN1 Gene

Publications for ERN1 Gene

  1. 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 56
  2. 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 56
  3. 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 56
  4. 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 56
  5. 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 56

ExternalLinks

View latest publications for ERN1 gene in Mastermind

Products for ERN1 Gene

  • Addgene plasmids for ERN1

Sources for ERN1 Gene