ERN1 endoplasmic reticulum to nucleus signaling 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ERN1provided by HGNC
Official Full Name: endoplasmic reticulum to nucleus signaling 1provided by HGNC
Primary source: HGNC:3449
See related: Ensembl:ENSG00000178607; HPRD:04943; MIM:604033
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRE1; IRE1P; IRE1a; hIRE1p; FLJ30999; MGC163277; MGC163279
Summary: 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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 17q24.2

Sequence :: Chromosome: 17; NC_000017.10 (62120390..62207502, complement)

See ERN1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Cdc37-mediated direct interaction between Hsp90/Cdc37 and an IRE1alpha cytosolic motif is important to maintain basal IRE1alpha activity and contributes to normal protein homeostasis and unfolded protein response under physiological stimulation.
Title: Cdc37/Hsp90 protein-mediated regulation of IRE1α protein activity in endoplasmic reticulum stress response and insulin synthesis in INS-1 cells.
Influenza A viral replication is blocked by inhibition of the inositol-requiring enzyme 1 (IRE1) stress pathway.
Title: Influenza A viral replication is blocked by inhibition of the inositol-requiring enzyme 1 (IRE1) stress pathway.
IRE1 plays an essential role in ER stress-mediated aggregation of mutant HTT via the inhibition of autophagy flux.
Title: IRE1 plays an essential role in ER stress-mediated aggregation of mutant huntingtin via the inhibition of autophagy flux.
Targeted and selective activation of the catalytic properties of IRE1alpha may consequently define new strategies to protect cells from deleterious effects of ER stress signaling.
Title: Peptides derived from the bifunctional kinase/RNase enzyme IRE1α modulate IRE1α activity and protect cells from endoplasmic reticulum stress.
endoplasmic reticulum to nucleus signaling 1 is activated following oxygen-glucose deprivation of rat cortical cells
Title: Induction of ER stress in response to oxygen-glucose deprivation of cortical cultures involves the activation of the PERK and IRE-1 pathways and of caspase-12.
REVIEW: Modulating stress responses by the UPRosome
Title: Modulating stress responses by the UPRosome: a matter of life and death.
early DENV-2 infection triggers and then suppresses PERK-mediated eIF2alpha phosphorylation and that in mid and late DENV-2 infection, the IRE1-XBP1 and ATF6 pathways are activated, respectively
Title: Dengue virus modulates the unfolded protein response in a time-dependent manner.
IRE1-alpha-dependent phospho-CREB signaling pathway responsive to NO/Ca(2+) may play an important role in regulating ER-related cell death in glioma
Title: Nitric oxide induction of IRE1-alpha-dependent CREB phosphorylation in human glioma cells.
Data suggest that chronic epilepsy is associated with ER stress, as well as induction of both IRE1alpha-mediated pro- and anti-apoptotic signaling pathways.
Title: Involvement of IRE1α signaling in the hippocampus in patients with mesial temporal lobe epilepsy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.

Submit: New GeneRIF Correction See all (32)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O75460	Q16611	BAK1	HPRD	PubMed
O75460	Q07814	BAX	HPRD	PubMed
O75460	Q92905	COPS5	HPRD	PubMed
O75460	O75460	ERN1	HPRD	PubMed
O75460	P07900	HSP90AA1	HPRD	PubMed
O75460	P11021	HSPA5	HPRD	PubMed
O75460	Q99683	MAP3K5	HPRD	PubMed
O75460	P49768	PSEN1	HPRD	PubMed
O75460	Q9H2K8	TAOK3	HPRD	PubMed
O75460	P19438	TNFRSF1A	HPRD	PubMed
O75460	Q12933	TRAF2	HPRD	PubMed
BioGRID:108391	BioGRID:108391	ERN1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108391	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108391	BioGRID:109541	HSPA5	BioGRID	PubMed	Reconstituted Complex
BioGRID:108391	BioGRID:110381	MAP3K5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108391	BioGRID:111642	PSEN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108391	BioGRID:124085	SYVN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108391	BioGRID:119490	TAOK3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108391	BioGRID:113038	TRAF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108391	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
ATP binding	IDA Inferred from Direct Assay more info	PubMed
endoribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
endoribonuclease activity	TAS Traceable Author Statement more info
endoribonuclease activity, producing 5'-phosphomonoesters	IEA Inferred from Electronic Annotation more info
hydrolase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
protein serine/threonine kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
activation of signaling protein activity involved in unfolded protein response	IDA Inferred from Direct Assay more info	PubMed
activation of signaling protein activity involved in unfolded protein response	TAS Traceable Author Statement more info
apoptotic process	IEA Inferred from Electronic Annotation more info
cell cycle arrest	ISS Inferred from Sequence or Structural Similarity more info
endoplasmic reticulum unfolded protein response	TAS Traceable Author Statement more info
induction of apoptosis	ISS Inferred from Sequence or Structural Similarity more info
mRNA processing	IEA Inferred from Electronic Annotation more info
positive regulation of endoplasmic reticulum unfolded protein response	IMP Inferred from Mutant Phenotype more info	PubMed
protein autophosphorylation	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
integral to endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
nuclear inner membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: serine/threonine-protein kinase/endoribonuclease IRE1

Names: serine/threonine-protein kinase/endoribonuclease IRE1; ire1-alpha; inositol-requiring 1; ER to nucleus signalling 1; inositol-requiring enzyme 1; inositol-requiring protein 1; protein kinase/endoribonuclease; endoplasmic reticulum-to-nucleus signaling 1

NP_001424.3

EC 2.7.11.1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001433.3 → NP_001424.3 serine/threonine-protein kinase/endoribonuclease IRE1 precursor

Status: REVIEWED

Source sequence(s)

AB209869, AC005803, BC130405, DB128514

Consensus CDS

CCDS45762.1

UniProtKB/Swiss-Prot

O75460

Related

ENSP00000401445, ENST00000433197

Conserved Domains (4) summary

cd00180
Location:577 – 830
Blast Score: 424

PKc; Catalytic domain of Protein Kinases

cd09769
Location:30 – 298
Blast Score: 863

Luminal_IRE1; The Luminal domain, a dimerization domain, of the Serine/Threonine protein kinase, Inositol-requiring protein 1

smart00220
Location:571 – 832
Blast Score: 466

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd10422
Location:836 – 955
Blast Score: 539

RNase_Ire1; RNase domain (also known as the kinase extension nuclease domain) of Ire1

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

62120390..62207502, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

57488466..57575481, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152461.2: Suppressed sequence

Description

NM_152461.2: This RefSeq was permanently suppressed because it is primarily intronic sequence.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005803.1 (123713..162472)	None
genomic	AC025362.12 (40300..88625)	None
genomic	CH471109.2	EAW94213.1
		EAW94214.1
mRNA	AB209869.1	BAD93106.1
mRNA	AF059198.1	AAC25991.1
mRNA	AI791744.1	None
mRNA	AI792619.1	None
mRNA	AK055561.1	None
mRNA	AK292403.1	BAF85092.1
mRNA	AL698247.1	None
mRNA	BC130405.1	AAI30406.1
mRNA	BC130407.1	AAI30408.1
mRNA	BF817483.1	None
mRNA	BF846361.1	None
mRNA	DB128514.1	None