ERN1 (endoplasmic reticulum to nucleus signaling 1) - Rat Genome Database

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Gene: ERN1 (endoplasmic reticulum to nucleus signaling 1) Homo sapiens
Analyze
Symbol: ERN1
Name: endoplasmic reticulum to nucleus signaling 1
RGD ID: 1605125
HGNC Page HGNC
Description: Enables several functions, including adenyl ribonucleotide binding activity; heat shock protein binding activity; and magnesium ion binding activity. Involved in several processes, including IRE1-mediated unfolded protein response; mRNA processing; and positive regulation of signal transduction. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. Part of IRE1-RACK1-PP2A complex and IRE1-TRAF2-ASK1 complex. Implicated in hepatocellular carcinoma. Biomarker of oropharynx cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: endoplasmic reticulum-to-nucleus signaling 1; ER to nucleus signalling 1; FLJ30999; hIRE1p; inositol-requiring 1; inositol-requiring enzyme 1; inositol-requiring protein 1; IRE1; ire1-alpha; IRE1a; IRE1P; MGC163277; MGC163279; protein kinase/endoribonuclease; serine/threonine-protein kinase/endoribonuclease IRE1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1764,039,080 - 64,130,819 (-)EnsemblGRCh38hg38GRCh38
GRCh381764,039,142 - 64,132,469 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371762,116,502 - 62,207,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,474,122 - 59,561,234 (-)NCBINCBI36hg18NCBI36
Celera1756,508,473 - 56,595,582 (-)NCBI
Cytogenetic Map17q23.3NCBI
HuRef1757,488,466 - 57,575,481 (-)NCBIHuRef
CHM1_11762,184,805 - 62,271,973 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (ISO)
(Z)-3-butylidenephthalide  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (EXP,ISO)
1-[2-(3,4-dichlorophenyl)ethyl]-4-methylpiperazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (EXP,ISO)
1-naphthyl isothiocyanate  (EXP)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dichlorophenol  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-acetyldeoxynivalenol  (EXP)
3-chloropropane-1,2-diol  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxynon-2-enal  (ISO)
4-phenylbutyric acid  (EXP,ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrylamide  (EXP)
ADP  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allopurinol  (EXP)
amiloride  (ISO)
amiodarone  (EXP,ISO)
amosite asbestos  (EXP,ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
Azaspiracid  (EXP)
baicalin  (ISO)
benomyl  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bicuculline  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
brefeldin A  (ISO)
Butylparaben  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
Calcimycin  (EXP)
calix[6]arene  (EXP)
Candesartan cilexetil  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
cantharidin  (EXP)
capsaicin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
cerulenin  (EXP)
ceruletide  (ISO)
chloroacetic acid  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chrysophanol  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
Deguelin  (EXP)
demethoxycurcumin  (EXP)
deoxynivalenol  (EXP,ISO)
desferrioxamine B  (EXP)
diarsenic trioxide  (EXP,ISO)
diclofenac  (EXP)
dihydrocapsaicin  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (ISO)
edaravone  (ISO)
endosulfan  (ISO)
epoxomicin  (ISO)
erastin  (ISO)
ethanol  (EXP,ISO)
ferric ammonium citrate  (EXP)
ferric oxide  (ISO)
flufenoxuron  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gadolinium trichloride  (ISO)
gamma-aminobutyric acid  (ISO)
geraniol  (EXP)
ginsenoside Rg1  (EXP)
glucose  (EXP)
glycyrrhetinate  (EXP)
glycyrrhetinic acid  (EXP)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
Guanabenz  (ISO)
hexadecanoic acid  (EXP,ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroxychloroquine  (EXP)
indometacin  (EXP)
L-1,4-dithiothreitol  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
linuron  (EXP,ISO)
lipopolysaccharide  (EXP)
luteolin  (EXP)
lycopene  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
metacetamol  (ISO)
methamphetamine  (EXP,ISO)
methotrexate  (ISO)
methylmercury chloride  (ISO)
methylparaben  (EXP)
methyltestosterone  (EXP)
minocycline  (ISO)
mithramycin  (EXP)
MK-2206  (EXP)
morusin  (EXP)
muscimol  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
naltrexone  (EXP)
nicotine  (ISO)
Norbinaltorphimine  (EXP)
okadaic acid  (EXP)
oleic acid  (EXP)
orlistat  (EXP)
oxaliplatin  (ISO)
oxidopamine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
poly(guanylic acid)  (ISO)
potassium iodide  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (ISO)
propiconazole  (ISO)
pyrazinecarboxamide  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
rotenone  (EXP,ISO)
SCH 23390  (ISO)
sertraline  (EXP)
silicon dioxide  (ISO)
sincalide  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (EXP,ISO)
streptozocin  (ISO)
succimer  (ISO)
sulindac  (EXP)
T-2 toxin  (EXP,ISO)
tacrolimus hydrate  (ISO)
taurine  (ISO)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
thymoquinone  (EXP)
titanium dioxide  (EXP)
Tributyltin oxide  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (EXP,ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
ursolic acid  (EXP)
valproic acid  (EXP)
valsartan  (ISO)
vemurafenib  (EXP)
vinclozolin  (ISO)
vincristine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8889548   PMID:9637683   PMID:10587643   PMID:10650002   PMID:10737800   PMID:11175748   PMID:11278723   PMID:11779464   PMID:11779465   PMID:11850408   PMID:11897784   PMID:12050113  
PMID:12446770   PMID:12477932   PMID:12637535   PMID:12843613   PMID:14702039   PMID:15063770   PMID:15234121   PMID:16107700   PMID:16344560   PMID:16645094   PMID:16680093   PMID:17585877  
PMID:17638880   PMID:17951406   PMID:17991856   PMID:18065414   PMID:18242182   PMID:18369366   PMID:18840095   PMID:19135427   PMID:19328063   PMID:19622636   PMID:19913121   PMID:20007910  
PMID:20013084   PMID:20103773   PMID:20379614   PMID:20447464   PMID:20625543   PMID:20628086   PMID:20702765   PMID:20798350   PMID:20819778   PMID:20965234   PMID:21118962   PMID:21317875  
PMID:21385877   PMID:21482118   PMID:21525936   PMID:21680894   PMID:21873635   PMID:21954231   PMID:22013210   PMID:22194594   PMID:22199355   PMID:22219383   PMID:22314839   PMID:22315414  
PMID:22419015   PMID:22446326   PMID:22718352   PMID:22787145   PMID:22917505   PMID:23000344   PMID:23001845   PMID:23041190   PMID:23042294   PMID:23103912   PMID:23110043   PMID:23363253  
PMID:23378536   PMID:23529610   PMID:23575540   PMID:23598528   PMID:23602568   PMID:23748775   PMID:23752693   PMID:23830192   PMID:23880584   PMID:23942232   PMID:23950715   PMID:24121653  
PMID:24177270   PMID:24240056   PMID:24330607   PMID:24497642   PMID:24524643   PMID:24565834   PMID:24664756   PMID:24743743   PMID:24810055   PMID:24936061   PMID:24951540   PMID:24970676  
PMID:25142592   PMID:25170079   PMID:25225294   PMID:25226532   PMID:25241761   PMID:25409632   PMID:25437541   PMID:25475719   PMID:25476903   PMID:25495526   PMID:25516437   PMID:25633195  
PMID:25675914   PMID:25692299   PMID:25742138   PMID:25797626   PMID:25816608   PMID:25870107   PMID:25901709   PMID:25968568   PMID:25976933   PMID:25986851   PMID:25993558   PMID:26056941  
PMID:26093676   PMID:26108623   PMID:26125799   PMID:26134873   PMID:26173697   PMID:26254280   PMID:26255341   PMID:26306048   PMID:26315405   PMID:26325176   PMID:26438213   PMID:26446798  
PMID:26469762   PMID:26494037   PMID:26517687   PMID:26621917   PMID:26634309   PMID:26740125   PMID:26742428   PMID:26755628   PMID:26979393   PMID:27021640   PMID:27025058   PMID:27025059  
PMID:27044747   PMID:27059130   PMID:27226027   PMID:27227314   PMID:27238082   PMID:27540856   PMID:27560795   PMID:27647225   PMID:27686654   PMID:27725157   PMID:27743894   PMID:27774654  
PMID:27785700   PMID:27829216   PMID:28027394   PMID:28093214   PMID:28105371   PMID:28128204   PMID:28137856   PMID:28167662   PMID:28178380   PMID:28222026   PMID:28222747   PMID:28334878  
PMID:28341998   PMID:28349059   PMID:28358375   PMID:28380378   PMID:28455143   PMID:28504640   PMID:28514442   PMID:28550308   PMID:28588082   PMID:28618969   PMID:28687980   PMID:28888981  
PMID:28971800   PMID:29198525   PMID:29208426   PMID:29227599   PMID:29235326   PMID:29235329   PMID:29235836   PMID:29236388   PMID:29263275   PMID:29276149   PMID:29311133   PMID:29316036  
PMID:29381485   PMID:29480818   PMID:29506314   PMID:29507755   PMID:29537195   PMID:29696609   PMID:29768047   PMID:29851562   PMID:30013108   PMID:30088945   PMID:30109813   PMID:30111846  
PMID:30118681   PMID:30305738   PMID:30594400   PMID:30687308   PMID:30853179   PMID:30943411   PMID:31082732   PMID:31167779   PMID:31320508   PMID:31326465   PMID:31368599   PMID:31371506  
PMID:31424945   PMID:31428093   PMID:31453810   PMID:31495285   PMID:31695187   PMID:31834612   PMID:31869409   PMID:31873072   PMID:31875595   PMID:31896552   PMID:31930117   PMID:32039055  
PMID:32149426   PMID:32166747   PMID:32332742   PMID:32418990   PMID:32433555   PMID:32520957   PMID:32545307   PMID:32788208   PMID:32857715   PMID:32857719   PMID:32967957   PMID:33043579  
PMID:33052067   PMID:33060689   PMID:33140520   PMID:33290055   PMID:33318494   PMID:33637690   PMID:33802742   PMID:33813002   PMID:33833850  


Genomics

Comparative Map Data
ERN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1764,039,080 - 64,130,819 (-)EnsemblGRCh38hg38GRCh38
GRCh381764,039,142 - 64,132,469 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371762,116,502 - 62,207,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361759,474,122 - 59,561,234 (-)NCBINCBI36hg18NCBI36
Celera1756,508,473 - 56,595,582 (-)NCBI
Cytogenetic Map17q23.3NCBI
HuRef1757,488,466 - 57,575,481 (-)NCBIHuRef
CHM1_11762,184,805 - 62,271,973 (-)NCBICHM1_1
Ern1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911106,285,474 - 106,378,701 (-)NCBIGRCm39mm39
GRCm39 Ensembl11106,285,476 - 106,378,678 (-)Ensembl
GRCm3811106,397,620 - 106,487,796 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11106,394,650 - 106,487,852 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711106,258,934 - 106,349,110 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611106,213,710 - 106,303,886 (-)NCBImm8
Celera11118,128,975 - 118,219,164 (-)NCBICelera
Cytogenetic Map11E1NCBI
Ern1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21091,326,889 - 91,421,201 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1094,588,555 - 94,681,914 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01094,588,555 - 94,682,072 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01094,336,640 - 94,429,967 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41095,794,488 - 95,855,895 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1090,003,932 - 90,064,578 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Ern1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554787,751,830 - 7,799,460 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554787,720,664 - 7,803,662 (+)NCBIChiLan1.0ChiLan1.0
ERN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11763,226,949 - 63,317,825 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1763,226,949 - 63,317,825 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01758,132,889 - 58,224,012 (-)NCBIMhudiblu_PPA_v0panPan3
ERN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1911,930,614 - 12,006,724 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl911,934,965 - 12,006,814 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha912,825,652 - 12,903,073 (-)NCBI
ROS_Cfam_1.0913,591,579 - 13,669,839 (-)NCBI
UMICH_Zoey_3.1912,538,344 - 12,616,358 (-)NCBI
UNSW_CanFamBas_1.0914,915,804 - 14,993,944 (+)NCBI
UU_Cfam_GSD_1.0914,918,080 - 14,996,082 (+)NCBI
Ern1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560214,488,687 - 14,581,401 (+)NCBI
SpeTri2.0NW_0049365414,613,197 - 4,705,911 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1214,881,923 - 14,997,426 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11214,881,913 - 14,963,290 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21214,918,929 - 14,954,855 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11657,145,080 - 57,233,757 (+)NCBI
ChlSab1.1 Ensembl1657,145,191 - 57,236,230 (+)Ensembl
Vero_WHO_p1.0NW_02366607727,756,105 - 27,847,969 (+)NCBI
Ern1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248491,521,996 - 1,625,878 (-)NCBI

Position Markers
SHGC-173528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371762,170,422 - 62,170,769UniSTSGRCh37
Build 361759,524,154 - 59,524,501RGDNCBI36
Celera1756,558,492 - 56,558,839RGD
Cytogenetic Map17q24.2UniSTS
TNG Radiation Hybrid Map1728238.0UniSTS
RH47240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371762,203,511 - 62,203,630UniSTSGRCh37
Build 361759,557,243 - 59,557,362RGDNCBI36
Celera1756,591,591 - 56,591,710RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,571,490 - 57,571,609UniSTS
GeneMap99-GB4 RH Map17405.21UniSTS
G10027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371762,133,032 - 62,133,278UniSTSGRCh37
Build 361759,486,764 - 59,487,010RGDNCBI36
Celera1756,521,120 - 56,521,366RGD
Cytogenetic Map17q24.2UniSTS
HuRef1757,501,113 - 57,501,359UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2832
Count of miRNA genes:1157
Interacting mature miRNAs:1442
Transcripts:ENST00000433197, ENST00000577567, ENST00000579249, ENST00000583028, ENST00000583077, ENST00000583896, ENST00000584041, ENST00000606895
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 470 574 862 337 1068 199 1076 34 272 58 665 846 141 244 572 2
Low 1969 2407 864 287 883 266 3281 2152 3307 360 795 766 34 1 960 2216 3 2
Below cutoff 10 11 154 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI791744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI792619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL698247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF817483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF846361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA311378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB128514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000433197   ⟹   ENSP00000401445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,039,142 - 64,130,144 (-)Ensembl
RefSeq Acc Id: ENST00000577567
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,068,237 - 64,080,474 (-)Ensembl
RefSeq Acc Id: ENST00000579249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,067,860 - 64,072,096 (-)Ensembl
RefSeq Acc Id: ENST00000583028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,097,888 - 64,130,144 (-)Ensembl
RefSeq Acc Id: ENST00000583077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,053,967 - 64,054,767 (-)Ensembl
RefSeq Acc Id: ENST00000583896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,060,576 - 64,066,984 (-)Ensembl
RefSeq Acc Id: ENST00000584041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,075,077 - 64,130,142 (-)Ensembl
RefSeq Acc Id: ENST00000606895   ⟹   ENSP00000475519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,128,752 - 64,130,819 (-)Ensembl
RefSeq Acc Id: ENST00000680433   ⟹   ENSP00000506094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,039,080 - 64,130,125 (-)Ensembl
RefSeq Acc Id: ENST00000680493   ⟹   ENSP00000505990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,093,493 - 64,130,059 (-)Ensembl
RefSeq Acc Id: ENST00000680625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1764,039,153 - 64,082,726 (-)Ensembl
RefSeq Acc Id: NM_001433   ⟹   NP_001424
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381764,039,142 - 64,130,144 (-)NCBI
GRCh371762,116,502 - 62,207,502 (-)NCBI
Build 361759,474,122 - 59,561,234 (-)NCBI Archive
HuRef1757,488,466 - 57,575,481 (-)ENTREZGENE
CHM1_11762,184,805 - 62,271,973 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024347   ⟹   XP_016879836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381764,039,142 - 64,132,469 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024348   ⟹   XP_016879837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381764,041,381 - 64,132,469 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001424   ⟸   NM_001433
- Peptide Label: precursor
- UniProtKB: O75460 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016879836   ⟸   XM_017024347
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016879837   ⟸   XM_017024348
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000401445   ⟸   ENST00000433197
RefSeq Acc Id: ENSP00000475519   ⟸   ENST00000606895
RefSeq Acc Id: ENSP00000505990   ⟸   ENST00000680493
RefSeq Acc Id: ENSP00000506094   ⟸   ENST00000680433
Protein Domains
KEN   Protein kinase

Promoters
RGD ID:6794116
Promoter ID:HG_KWN:26854
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001433
Position:
Human AssemblyChrPosition (strand)Source
Build 361759,561,121 - 59,561,677 (-)MPROMDB
RGD ID:7236021
Promoter ID:EPDNEW_H23756
Type:initiation region
Name:ERN1_1
Description:endoplasmic reticulum to nucleus signaling 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381764,130,141 - 64,130,201EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 copy number gain See cases [RCV000052485] Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_001433.5(ERN1):c.283-19_283-18dup duplication not specified [RCV000455535] Chr17:64075251..64075252 [GRCh38]
Chr17:62152611..62152612 [GRCh37]
Chr17:17q23.3
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.10:g.(?_62018111)_(62987152_?)dup duplication Familial hyperkalemic periodic paralysis [RCV000542611] Chr17:62018111..62987152 [GRCh37]
Chr17:17q23.3-24.1
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 copy number gain not provided [RCV000752158] Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2
pathogenic
NM_001433.5(ERN1):c.2358C>T (p.Leu786=) single nucleotide variant not provided [RCV000883460] Chr17:64049098 [GRCh38]
Chr17:62126458 [GRCh37]
Chr17:17q23.3
benign
GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) copy number gain not provided [RCV000767764] Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2
pathogenic
NM_001433.5(ERN1):c.396C>T (p.Thr132=) single nucleotide variant not provided [RCV000916320] Chr17:64072063 [GRCh38]
Chr17:62149423 [GRCh37]
Chr17:17q23.3
likely benign
NM_001433.5(ERN1):c.1649C>G (p.Pro550Arg) single nucleotide variant not provided [RCV000883492] Chr17:64055698 [GRCh38]
Chr17:62133058 [GRCh37]
Chr17:17q23.3
benign
GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 copy number gain not provided [RCV000845965] Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2
pathogenic
NM_001433.5(ERN1):c.1563G>A (p.Ser521=) single nucleotide variant not provided [RCV000910817] Chr17:64055784 [GRCh38]
Chr17:62133144 [GRCh37]
Chr17:17q23.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3449 AgrOrtholog
COSMIC ERN1 COSMIC
Ensembl Genes ENSG00000178607 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000401445 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475519 UniProtKB/Swiss-Prot
  ENSP00000505990 UniProtKB/TrEMBL
  ENSP00000506094 UniProtKB/TrEMBL
Ensembl Transcript ENST00000433197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000606895 UniProtKB/Swiss-Prot
  ENST00000680433 UniProtKB/TrEMBL
  ENST00000680493 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1440.180 UniProtKB/Swiss-Prot
  2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000178607 GTEx
HGNC ID HGNC:3449 ENTREZGENE
Human Proteome Map ERN1 Human Proteome Map
InterPro KEN_dom UniProtKB/Swiss-Prot
  KEN_sf UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  PQQ_beta_propeller_repeat UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Quinoprotein_ADH-like_supfam UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:2081 UniProtKB/Swiss-Prot
NCBI Gene 2081 ENTREZGENE
OMIM 604033 OMIM
Pfam Pkinase UniProtKB/Swiss-Prot
  Ribonuc_2-5A UniProtKB/Swiss-Prot
PharmGKB PA27861 PharmGKB
PROSITE KEN UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART PQQ UniProtKB/Swiss-Prot
  S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50998 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
UniProt A0A7P0TA38_HUMAN UniProtKB/TrEMBL
  A0A7P0TAB0_HUMAN UniProtKB/TrEMBL
  ERN1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A1L457 UniProtKB/Swiss-Prot
  A8K8N8 UniProtKB/Swiss-Prot
  A8MXS7 UniProtKB/Swiss-Prot
  Q59EE2 UniProtKB/Swiss-Prot