Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2081
Gene name Gene Name - the full gene name approved by the HGNC.
Endoplasmic reticulum to nucleus signaling 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ERN1
Synonyms (NCBI Gene) Gene synonyms aliases
IRE1, IRE1P, IRE1a, hIRE1p
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q23.3
Summary Summary of gene provided in NCBI Entrez 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 u
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052484 hsa-let-7a-5p CLASH 23622248
MIRT053104 hsa-miR-199a-5p Luciferase reporter assay, qRT-PCR, Western 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 factor Regulation Reference
XBP1 Unknown 20513357
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604033 3449 ENSG00000178607
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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