ERN1

Also known as IRE1, IRE1P, IRE1a, hIRE1p, endoplasmic reticulum to nucleus signaling 1

The serine/threonine-protein kinase/endoribonuclease inositol-requiring enzyme 1 α (IRE1α) is an enzyme that in humans is encoded by the ERN1 gene.

Gene data

ERN1

Name: endoplasmic reticulum to nucleus signaling 1
Type: protein-coding
Position: 64,039,080–64,130,819 (−)
Aliases: IRE1, IRE1P, IRE1a, hIRE1p
Ensembl: ENSG00000178607
RefSeq RNA: NM_001433.5, NM_152461.2
RefSeq protein: NP_001424.3

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].

Pathways

Autophagy - animal - Homo sapiens (human)Protein processing in endoplasmic reticulum - Homo sapiens (human)Apoptosis - Homo sapiens (human)Non-alcoholic fatty liver disease - Homo sapiens (human)Alzheimer disease - Homo sapiens (human)Parkinson disease - Homo sapiens (human)Amyotrophic lateral sclerosis - Homo sapiens (human)Huntington disease - Homo sapiens (human)Spinocerebellar ataxia - Homo sapiens (human)Pathways of neurodegeneration - multiple diseases - Homo sapiens (human)

via MyGene.info

Gene · Ensembl

endoplasmic reticulum to nucleus signaling 1

Symbol: ERN1
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:64,039,080-64,130,819
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: Protein ERN1 PDB 2hz6.png

Show 5 more facts

HomoloGene ID: 55580
exact match: identifiers.org/ncbigene/2081
genomic end: 62208179
genomic start: 64039080
cytogenetic location: 17q23.3

Sources (3)

via Wikidata · CC0

~3 min read

Article

10 sections

Contents

Function
Signaling
Clinical significance
Interactions
Inhibitors
RNase domain inhibitors
ATP-binding pocket
Specific roles in the brain
References
Further reading

The serine/threonine-protein kinase/endoribonuclease inositol-requiring enzyme 1 α (IRE1α) is an enzyme that in humans is encoded by the ERN1 gene.

== Function == The protein encoded by this gene is the ER to nucleus signalling 1 protein, a human homologue of the yeast Ire1 gene product. This protein possesses intrinsic kinase activity and an endoribonuclease activity and it is important in altering gene expression as a response to endoplasmic reticulum-based stress signals (mainly the unfolded protein response). Two alternatively spliced transcript variants encoding different isoforms have been found for this gene.