ERN1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
ERN1
Official Name
endoplasmic reticulum to nucleus signaling 1 [Source:HGNC Symbol;Acc:HGNC:3449]
Ensembl ID
ENSG00000178607
Bio databases IDs NCBI: 2081 Ensembl: ENSG00000178607
Aliases endoplasmic reticulum to nucleus signaling 1, inositol-requiring enzyme 1, Serine/threonine-protein kinase/endoribonuclease IRE1
Synonyms 9030414B18Rik, C85377, endoplasmic reticulum to nucleus signaling 1, endoplasmic reticulum to nucleus signalling 1, FLJ30999, hIRE1p, Inositol-requiring 1, IRE1, IRE1a, IRE1 alpha, IRE1P, IRE1 α, RGD1559716
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ERN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • PQQ-like domain
  • protein serine/threonine kinase
  • Hsp70 protein binding
  • RNAse-L-like domain
  • ADP binding
  • ATP binding
  • heat shock protein binding
  • enzyme
  • Protein kinase domain
  • identical protein binding
  • effector domain
  • activation loop
  • endonuclease
  • cytoplasmic domain
  • nuclease domain
  • RNase_Ire1_like
  • Tyrosine kinase, catalytic domain
  • RNase domain
  • Protein kinase (unclassified specificity)
  • PQQ-dependent dehydrogenases and related proteins
  • Protein tyrosine and serine/threonine kinase
  • platelet-derived growth factor receptor binding
  • catalytic loop
  • PNGase/UBA or UBX (PUB) domain of p97 adaptor proteins
  • enzyme binding
  • beta-propeller repeat
  • protein binding
  • magnesium ion binding
  • endoplasmic reticulum lumenal domain
  • kinase
  • Serine/Threonine protein kinases, catalytic domain
  • kinase domain
  • Protein Kinases, catalytic domain
  • lumenal domain
  • transmembrane domain
  • protein homodimerization
  • endoribonuclease
  • luminal/IRE1-like
  • cytosolic tail domain

Pathways

Biological processes and signaling networks where the ERN1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • knee osteoarthritis
  • neoplasia
  • collagen-induced arthritis
  • non-insulin-dependent diabetes mellitus
  • atherosclerosis
  • Alzheimer disease
  • hepatic steatosis
  • weight loss
  • albuminuria
  • drug-induced liver disease
regulated by
  • cholesterol
  • PKC
  • ELOVL5
  • D-glucose
  • hepatocytes
  • beta-estradiol
  • thapsigargin
  • lipopolysaccharide
  • CD40
  • CYB5R3
regulates
role in cell
  • apoptosis
  • expression in
  • transactivation in
  • transcription in
  • phosphorylation in
  • synthesis in
  • proliferation
  • differentiation
  • cell death
  • replication in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • nuclear fraction
  • perinuclear region
  • cellular membrane
  • Endoplasmic Reticulum
  • Mitochondria
  • ER-to-Golgi intermediate compartment
  • endoplasmic reticulum membrane
  • inner nuclear membrane
  • nuclear rim
  • smooth endoplasmatic reticulum
  • rough endoplasmatic reticulum

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ERN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of JUN kinase activity
  • positive regulation of RNA splicing
  • protein autophosphorylation
  • positive regulation of endoplasmic reticulum unfolded protein response
  • protein phosphorylation
  • mRNA catabolic process
  • cellular response to glucose stimulus
  • mRNA splicing, via endonucleolytic cleavage and ligation
  • endothelial cell proliferation
  • regulation of macroautophagy
  • cellular response to unfolded protein
  • intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
  • cellular response to vascular endothelial growth factor stimulus
  • cellular response to hydrogen peroxide
  • response to endoplasmic reticulum stress

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • nuclear inner membrane
  • cytoplasm
  • mitochondrion
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein homodimerization activity
  • platelet-derived growth factor receptor binding
  • unfolded protein binding
  • ADP binding
  • protein serine/threonine kinase activity
  • endoribonuclease activity
  • magnesium ion binding
  • ATP binding
  • protein binding
  • Hsp90 protein binding
  • enzyme binding
  • Hsp70 protein binding

Gene-Specific Assays for Results You Can Trust

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