Gene Gene information from NCBI Gene database.
Entrez ID 2081
Gene name Endoplasmic reticulum to nucleus signaling 1
Gene symbol ERN1
Synonyms (NCBI Gene)
IRE1IRE1PIRE1ahIRE1p
Chromosome 17
Chromosome location 17q23.3
Summary 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 u
miRNA miRNA information provided by mirtarbase database.
133
miRTarBase ID miRNA Experiments Reference
MIRT052484 hsa-let-7a-5p CLASH 23622248
MIRT053104 hsa-miR-199a-5p Luciferase reporter assayqRT-PCRWestern blot 23598416
MIRT053105 hsa-miR-1291 GFP reporter assay 23598528
MIRT053105 hsa-miR-1291 GFP reporter assay 23598528
MIRT703869 hsa-miR-3173-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
XBP1 Unknown 20513357
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IDA 9637683
GO:0000287 Function Magnesium ion binding IEA
GO:0001935 Process Endothelial cell proliferation IDA 23529610
GO:0003824 Function Catalytic activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604033 3449 ENSG00000178607
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75460
Protein name Serine/threonine-protein kinase/endoribonuclease IRE1 (Endoplasmic reticulum-to-nucleus signaling 1) (Inositol-requiring protein 1) (hIRE1p) (Ire1-alpha) (IRE1a) [Includes: Serine/threonine-protein kinase (EC 2.7.11.1); Endoribonuclease (EC 3.1.26.-)]
Protein function Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11175748, PubMed:11779464, PubMed:12637535, PubMed:19328063, PubMed:21317875, PubMed:28128204, P
PDB 2HZ6 , 3P23 , 4U6R , 4YZ9 , 4YZC , 4YZD , 4Z7G , 4Z7H , 5HGI , 6HV0 , 6HX1 , 6SHC , 6URC , 6W39 , 6W3A , 6W3B , 6W3C , 6W3E , 6W3K , 6XDB , 6XDD , 6XDF , 7BMK , 8UVL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 571 832 Protein kinase domain Domain
PF06479 Ribonuc_2-5A 838 961 Ribonuclease 2-5A Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. High levels observed in pancreatic tissue. {ECO:0000269|PubMed:9637683}.
Sequence
MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDP
VLQVPTHVEEPAFLPDPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGK
KQDIWYVIDLLTGEKQQTLSSAFADSLCPSTSLLYLGRTEYTITMYDTKTRELRWNATYF
DYAASLPEDDVDYKMSHFVSNGDGLVVTVDSESGDVLWIQNYASPVVAFYVWQREGLRKV
MHINVAVETLRYLTFMSGEVGRITKWKYPFPKETEAKSKLTPTLYVGKYSTSLYASPSMV
HEGVAVVPRGSTLPLLEGPQTDGVTIGDKGECVITPSTDVKFDPGLKSKNKLNYLRNYWL
LIGHHETPLSASTKMLERFPNNLPKHRENVIPADSEKKSFEEVINLVDQTSENAPTTVSR
DVEEKPAHAPARPEAPVDSMLKDMATIILSTFLLIGWVAFIITYPLSMHQQQQLQHQQFQ
KELEKIQLLQQQQQQLPFHPPGDTAQDGELLDTSGPYSESSGTSSPSTSPRASNHSLCSG
SSASKAGSSPSLEQDDGDEETSVVIVGKISFCPKDVLGHGAEGTIVYRGMFDNRDVAVKR
ILPECFSFADREVQLLRESDEHPNVIRYFCTEKDRQFQYIAIELCAATLQEYVEQKDFAH
LGLEPITLLQQTTSGLAHLHSLNIVHRDLKPHNILISMPNAHGKIKAMISDFGLCKKLAV
GRHSFSRRSGVPGTEGWIAPEMLSEDCKENPTYTVDIFSAGCVFYYVISEGSHPFGKSLQ
RQANILLGACSLDCLHPEKHEDVIARELIEKMIAMDPQKRPSAKHVLKHPFF
WSLEKQLQ
FFQDVSDRIEKESLDGPIVKQLERGGRAVVKMDWRENITVPLQTDLRKFRTYKGGSVRDL
LRAMRNKKHHYRELPAEVRETLGSLPDDFVCYFTSRFPHLLAHTYRAMELCSHERLFQPY
Y
FHEPPEPQPPVTPDAL
Sequence length 977
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - animal
Protein processing in endoplasmic reticulum
Apoptosis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
Lipid and atherosclerosis
  IRE1alpha activates chaperones
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Uveal melanoma Uncertain significance rs374518749 RCV005930852
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Stimulate 28134810
Acute Lung Injury Associate 35812413
Adenocarcinoma of Lung Associate 28334878, 29676829
Alzheimer Disease Associate 29725981, 33637690
Amyotrophic Lateral Sclerosis Associate 29725981
Anophthalmia with pulmonary hypoplasia Associate 25657029
Arthritis Rheumatoid Associate 36548354
Autistic Disorder Associate 29761862
Axial osteomalacia Associate 34698138
Bipolar Disorder Associate 39272120