• Gene id: 2081

Gene Summary

• Gene Symbol: ERN1   Gene   UCSC   Ensembl
• Aliases: IRE1, IRE1P, IRE1a, hIRE1p
• Gene name: endoplasmic reticulum to nucleus signaling 1
• Alternate names: serine/threonine-protein kinase/endoribonuclease IRE1, ER to nucleus signalling 1, inositol-requiring 1, inositol-requiring enzyme 1, inositol-requiring protein 1, ire1-alpha, protein kinase/endoribonuclease,
• Gene location: 17q23.3 (64132468: 64039141)     Exons: 22     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 604033

Protein Summary

• Protein general information: O75460  
  • 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. )]
  • Length: 977  
  • Mass: 109735
  • Tissue specificity: Ubiquitously expressed. High levels observed in pancreatic tissue. {ECO
• Sequence:

  MPARRLLLLLTLLLPGLGIFGSTSTVTLPETLLFVSTLDGSLHAVSKRTGSIKWTLKEDPVLQVPTHVEEPAFLP
  DPNDGSLYTLGSKNNEGLTKLPFTIPELVQASPCRSSDGILYMGKKQDIWYVIDLLTGEKQQTLSSAFADSLCPS
  TSLLYLGRTEYTITMYDTKTRELRWNATYFDYAASLPEDDVDYKMSHFVSNGDGLVVTVDSESGDVLWIQNYASP
  VVAFYVWQREGLRKVMHINVAVETLRYLTFMSGEVGRITKWKYPFPKETEAKSKLTPTLYVGKYSTSLYASPSMV
  HEGVAVVPRGSTLPLLEGPQTDGVTIGDKGECVITPSTDVKFDPGLKSKNKLNYLRNYWLLIGHHETPLSASTKM
  LERFPNNLPKHRENVIPADSEKKSFEEVINLVDQTSENAPTTVSRDVEEKPAHAPARPEAPVDSMLKDMATIILS
  TFLLIGWVAFIITYPLSMHQQQQLQHQQFQKELEKIQLLQQQQQQLPFHPPGDTAQDGELLDTSGPYSESSGTSS
  PSTSPRASNHSLCSGSSASKAGSSPSLEQDDGDEETSVVIVGKISFCPKDVLGHGAEGTIVYRGMFDNRDVAVKR
  ILPECFSFADREVQLLRESDEHPNVIRYFCTEKDRQFQYIAIELCAATLQEYVEQKDFAHLGLEPITLLQQTTSG
  LAHLHSLNIVHRDLKPHNILISMPNAHGKIKAMISDFGLCKKLAVGRHSFSRRSGVPGTEGWIAPEMLSEDCKEN
  PTYTVDIFSAGCVFYYVISEGSHPFGKSLQRQANILLGACSLDCLHPEKHEDVIARELIEKMIAMDPQKRPSAKH
  VLKHPFFWSLEKQLQFFQDVSDRIEKESLDGPIVKQLERGGRAVVKMDWRENITVPLQTDLRKFRTYKGGSVRDL
  LRAMRNKKHHYRELPAEVRETLGSLPDDFVCYFTSRFPHLLAHTYRAMELCSHERLFQPYYFHEPPEPQPPVTPD
  AL

• Structural information:
  • Protein Domains: (571..83-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (835..96-)
    (/note="KEN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00725"-)
  • Interpro: IPR010513  IPR038357  IPR011009  IPR018391  IPR000719   IPR018997  IPR011047  IPR008271  IPR015943  
  • Prosite: PS51392 PS50011 PS00108
  • PDB: 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI 6HV0 6HX1 6SHC 6URC
  • PDBsum: 2HZ6 3P23 4U6R 4YZ9 4YZC 4YZD 4Z7G 4Z7H 5HGI 6HV0 6HX1 6SHC 6URC
  • DIP: 31711
  • STRING: ENSP00000401445
• Other Databases: GeneCards:  ERN1  Malacards:  ERN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0007257	activation of JUN kinase activity	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:1901142	insulin metabolic process	IDA	biological process
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0036289	peptidyl-serine autophosphorylation	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0006402	mRNA catabolic process	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	IDA	biological process
GO:0098787	mRNA cleavage involved in mRNA processing	IDA	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0071333	cellular response to glucose stimulus	IDA	biological process
GO:1990332	Ire1 complex	NAS	cellular component
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:1990630	IRE1-RACK1-PP2A complex	IDA	cellular component
GO:1990604	IRE1-TRAF2-ASK1 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IMP	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	TAS	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0030544	Hsp70 protein binding	IPI	molecular function
GO:1990579	peptidyl-serine trans-autophosphorylation	IMP	biological process
GO:0034620	cellular response to unfolded protein	IDA	biological process
GO:0034620	cellular response to unfolded protein	IMP	biological process
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA	biological process
GO:0051082	unfolded protein binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004521	endoribonuclease activity	IBA	molecular function
GO:1990604	IRE1-TRAF2-ASK1 complex	IBA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0033120	positive regulation of RNA splicing	IDA	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0033120	positive regulation of RNA splicing	IDA	biological process
GO:0070054	mRNA splicing, via endonucleolytic cleavage and ligation	IDA	biological process
GO:0001935	endothelial cell proliferation	IDA	biological process
GO:0035924	cellular response to vascular endothelial growth factor stimulus	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	IDA	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006379	mRNA cleavage	ISS	biological process
GO:0004540	ribonuclease activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006397	mRNA processing	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	IDA	biological process
GO:1990597	AIP1-IRE1 complex	IEA	cellular component
GO:0036498	IRE1-mediated unfolded protein response	IEA	biological process
GO:0006379	mRNA cleavage	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0033120	positive regulation of RNA splicing	IEA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0007257	activation of JUN kinase activity	IEA	biological process
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0004521	endoribonuclease activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0005161	platelet-derived growth factor receptor binding	IPI	molecular function
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004521	endoribonuclease activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0036498	IRE1-mediated unfolded protein response	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0007050	cell cycle arrest	ISS	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:1900103	positive regulation of endoplasmic reticulum unfolded protein response	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04141	Protein processing in endoplasmic reticulum
hsa05017	Spinocerebellar ataxia
hsa04140	Autophagy - animal
hsa04932	Non-alcoholic fatty liver disease
hsa04210	Apoptosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)