KEAP1 (kelch like ECH associated protein 1) - Rat Genome Database

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Gene: KEAP1 (kelch like ECH associated protein 1) Homo sapiens
Analyze
Symbol: KEAP1
Name: kelch like ECH associated protein 1
RGD ID: 1605110
HGNC Page HGNC:23177
Description: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and ubiquitin ligase-substrate adaptor activity. Involved in several processes, including negative regulation of response to oxidative stress; protein ubiquitination; and ubiquitin-dependent protein catabolic process. Located in several cellular components, including centriolar satellite; midbody; and nucleoplasm. Part of Cul3-RING ubiquitin ligase complex. Implicated in gallbladder cancer. Biomarker of amyotrophic lateral sclerosis; idiopathic interstitial pneumonia; and pulmonary emphysema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cytosolic inhibitor of Nrf2; INrf2; KEAP1 delta C; kelch-like ECH-associated protein 1; kelch-like family member 19; kelch-like protein 19; KIAA0132; KLHL19; MGC10630; MGC1114; MGC20887; MGC4407; MGC9454
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
GRCh381910,486,125 - 10,503,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,486,125 - 10,503,558 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,596,801 - 10,614,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,457,796 - 10,475,054 (-)NCBINCBI36Build 36hg18NCBI36
Celera1910,491,509 - 10,508,764 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,176,101 - 10,192,927 (-)NCBIHuRef
CHM1_11910,597,575 - 10,614,823 (-)NCBICHM1_1
T2T-CHM13v2.01910,612,569 - 10,629,791 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-albicanol  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(R)-lipoic acid  (EXP,ISO)
(R,R,R)-alpha-tocopherol  (EXP)
1,2-dimethylhydrazine  (ISO)
1,2-naphthoquinone  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP,ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2'-(4-ethoxyphenyl)-5-(4-methylpiperazin-1-yl)-2,5'-bibenzimidazole  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-di-tert-butylphenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,5-dihydroxybenzoic acid  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyladenine  (EXP)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-dipyridyl disulfide  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
7,8-dihydroxycoumarin  (EXP)
[6]-Shogaol  (EXP,ISO)
acrolein  (EXP,ISO)
acrylamide  (ISO)
Aescin  (EXP,ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha,alpha-trehalose  (ISO)
alpha-D-galactose  (ISO)
Altertoxin II  (EXP)
amiodarone  (ISO)
amitraz  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
andrographolide  (EXP)
anethole  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aristolochic acid A  (EXP,ISO)
arotinoid acid  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP,ISO)
atrazine  (EXP,ISO)
aureusidin  (ISO)
azathioprine  (ISO)
bafilomycin A1  (EXP)
baicalin  (ISO)
Bardoxolone methyl  (EXP,ISO)
belinostat  (EXP)
benzene  (EXP,ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzoquinones  (ISO)
betulin  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisdemethoxycurcumin  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bromosulfophthalein  (ISO)
Brusatol  (EXP,ISO)
buspirone  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbendazim  (ISO)
carbon disulfide  (ISO)
carbon monoxide  (ISO)
CCCP  (EXP)
celastrol  (ISO)
CGP 52608  (EXP)
chalcones  (ISO)
CHIR 99021  (EXP)
chitosan  (ISO)
chlorambucil  (EXP)
chloroacetaldehyde  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
Clivoline  (EXP)
clodronic acid  (EXP)
clofibric acid  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (EXP,ISO)
colistin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (ISO)
cortisol  (EXP)
crocin-1  (ISO)
CU-O LINKAGE  (EXP)
cumene hydroperoxide  (EXP)
curcumin  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
demethoxycurcumin  (ISO)
Dendrobine  (EXP)
deoxynivalenol  (ISO)
diallyl disulfide  (ISO)
diallyl trisulfide  (EXP,ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dichloroacetyl chloride  (ISO)
diethyl maleate  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dihydroartemisinin  (EXP)
dimercaprol  (ISO)
dioscin  (ISO)
diosmetin  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
disodium selenite  (ISO)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
ethanol  (ISO)
ethionamide  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
ethylenediaminetetraacetic acid  (ISO)
etoposide  (EXP)
falcarindiol  (ISO)
farrerol  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fumonisin B1  (EXP,ISO)
galactose  (ISO)
gefitinib  (EXP)
gentamycin  (ISO)
ginsenoside Rg1  (ISO)
gliclazide  (ISO)
glucose  (EXP,ISO)
glutathione  (EXP,ISO)
glyburide  (ISO)
glyphosate  (EXP)
hemin  (ISO)
hesperetin  (EXP)
hexadecanoic acid  (EXP)
hexaflumuron  (ISO)
homocysteine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroquinone  (EXP,ISO)
hypochlorous acid  (ISO)
ifosfamide  (EXP)
imidacloprid  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
iron(III) citrate  (EXP)
isoniazide  (ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lansoprazole  (ISO)
lead diacetate  (EXP,ISO)
lead(0)  (EXP)
leflunomide  (ISO)
linsidomine  (EXP)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (ISO)
liproxstatin-1  (EXP)
liquiritin  (ISO)
luteolin  (EXP)
lycopene  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
metformin  (ISO)
methotrexate  (ISO)
microcystin-LR  (EXP)
monascin  (EXP)
N'-(2,4-dimethylphenyl)-N-methylformamidine  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-acetyl-1,4-benzoquinone imine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methylnicotinate  (EXP)
N-nitrosodiethylamine  (ISO)
NADP zwitterion  (ISO)
NADP(+)  (ISO)
naphthalene-1,2-diol  (ISO)
naringin  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nicotinamide  (ISO)
ochratoxin A  (EXP)
oleic acid  (EXP)
oxidopamine  (EXP)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perillyl aldehyde  (EXP)
phalloidin  (ISO)
phenobarbital  (ISO)
phenylarsine oxide  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
pirinixic acid  (EXP)
porphyrins  (EXP)
potassium dichromate  (ISO)
pterostilbene  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
quercitrin  (EXP)
quinolinic acid  (ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rosmarinic acid  (EXP)
rotenone  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 431542  (EXP)
SCH772984  (EXP)
selenium atom  (EXP)
silibinin  (ISO)
silicon atom  (ISO)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
solanesol  (EXP)
sterigmatocystin  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP,ISO)
sulindac  (ISO)
T-2 toxin  (EXP)
tangeretin  (ISO)
Tanshinone I  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiophenes  (EXP)
Tiron  (ISO)
trabectedin  (EXP)
trans-anethole  (ISO)
trans-piceid  (EXP,ISO)
trans-rhaponticin  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (EXP)
tricetin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trilobatin  (ISO)
Triptolide  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tyloxapol  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vitamin D  (EXP)
XAV939  (EXP)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Deletion of Keap1 in the lung attenuates acute cigarette smoke-induced oxidative stress and inflammation. Blake DJ, etal., Am J Respir Cell Mol Biol. 2010 May;42(5):524-36. Epub 2009 Jun 11.
2. Functional characterization and role of INrf2 in antioxidant response element-mediated expression and antioxidant induction of NAD(P)H:quinone oxidoreductase1 gene. Dhakshinamoorthy S and Jaiswal AK, Oncogene 2001 Jun 28;20(29):3906-17.
3. Altered Nrf2/Keap1-Bach1 equilibrium in pulmonary emphysema. Goven D, etal., Thorax. 2008 Oct;63(10):916-24. Epub 2008 Jun 17.
4. Oxidative injury induces selective rather than global inhibition of proteasomal activity. Gurusamy N, etal., J Mol Cell Cardiol. 2008 Feb;44(2):419-28. Epub 2007 Oct 22.
5. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
6. The complexity of the Nrf2 pathway: beyond the antioxidant response. Huang Y, etal., J Nutr Biochem. 2015 Dec;26(12):1401-13. doi: 10.1016/j.jnutbio.2015.08.001. Epub 2015 Aug 8.
7. Contribution of impaired Nrf2-Keap1 pathway to oxidative stress and inflammation in chronic renal failure. Kim HJ and Vaziri ND, Am J Physiol Renal Physiol. 2010 Mar;298(3):F662-71. Epub 2009 Dec 9.
8. Functional dissection of Nrf2-dependent phase II genes in vascular inflammation and endotoxic injury using Keap1 siRNA. Kim JH, etal., Free Radic Biol Med. 2012 Aug 1;53(3):629-40. Epub 2012 Apr 27.
9. Enhancing Nrf2 pathway by disruption of Keap1 in myeloid leukocytes protects against sepsis. Kong X, etal., Am J Respir Crit Care Med. 2011 Oct 15;184(8):928-38. Epub 2011 Jul 28.
10. Nuclear factor erythroid 2-like 2 (Nrf2) expression in end-stage liver disease. Kurzawski M, etal., Environ Toxicol Pharmacol. 2012 Jul;34(1):87-95. Epub 2012 Mar 11.
11. Cell-specific elevation of NRF2 and sulfiredoxin-1 as markers of oxidative stress in the lungs of idiopathic pulmonary fibrosis and non-specific interstitial pneumonia. Mazur W, etal., APMIS. 2010 Sep 1;118(9):703-12.
12. Activation of the Nrf2/ARE pathway via S-alkylation of cysteine 151 in the chemopreventive agent-sensor Keap1 protein by falcarindiol, a conjugated diacetylene compound. Ohnuma T, etal., Toxicol Appl Pharmacol. 2010 Apr 1;244(1):27-36. Epub 2009 Dec 21.
13. Nrf2 inhibits hepatic iron accumulation and counteracts oxidative stress-induced liver injury in nutritional steatohepatitis. Okada K, etal., J Gastroenterol. 2012 Aug;47(8):924-35. Epub 2012 Feb 28.
14. Genetic or pharmacologic amplification of nrf2 signaling inhibits acute inflammatory liver injury in mice. Osburn WO, etal., Toxicol Sci. 2008 Jul;104(1):218-27. Epub 2008 Apr 15.
15. Resveratrol protects diabetic kidney by attenuating hyperglycemia-mediated oxidative stress and renal inflammatory cytokines via Nrf2-Keap1 signaling. Palsamy P and Subramanian S, Biochim Biophys Acta. 2011 Jul;1812(7):719-31. Epub 2011 Mar 23.
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. The Nrf2-Keap1 cellular defense pathway and heat shock protein 70 (Hsp70) response. Role in protection against oxidative stress in early neonatal unilateral ureteral obstruction (UUO). Rinaldi Tosi ME, etal., Cell Stress Chaperones. 2011 Jan;16(1):57-68. Epub 2010 Aug 24.
19. Nuclear erythroid 2-related factor 2-antioxidative response element signaling pathway in motor cortex and spinal cord in amyotrophic lateral sclerosis. Sarlette A, etal., J Neuropathol Exp Neurol. 2008 Nov;67(11):1055-62.
20. Genetic alteration of Keap1 confers constitutive Nrf2 activation and resistance to chemotherapy in gallbladder cancer. Shibata T, etal., Gastroenterology. 2008 Oct;135(4):1358-1368, 1368.e1-4. Epub 2008 Jul 3.
21. Level and course of FEV1 in relation to polymorphisms in NFE2L2 and KEAP1 in the general population. Siedlinski M, etal., Respir Res. 2009 Aug 11;10:73.
22. Expression of Keap1-Nrf2 system and antioxidative proteins in mouse brain after transient middle cerebral artery occlusion. Tanaka N, etal., Brain Res. 2011 Jan 25;1370:246-53. Epub 2010 Nov 11.
23. Transcription factor Nrf2-mediated antioxidant defense system in the development of diabetic retinopathy. Zhong Q, etal., Invest Ophthalmol Vis Sci. 2013 Jun 6;54(6):3941-8. doi: 10.1167/iovs.13-11598.
Additional References at PubMed
PMID:8590280   PMID:9887101   PMID:11909699   PMID:11921171   PMID:12145307   PMID:12360409   PMID:12477932   PMID:12947090   PMID:14517290   PMID:14585973   PMID:14702039   PMID:15166316  
PMID:15231748   PMID:15282312   PMID:15367669   PMID:15379550   PMID:15383316   PMID:15475350   PMID:15572695   PMID:15583386   PMID:15601839   PMID:15917255   PMID:15983046   PMID:15985429  
PMID:16000310   PMID:16006525   PMID:16137655   PMID:16189514   PMID:16204884   PMID:16344560   PMID:16449638   PMID:16507366   PMID:16508120   PMID:16687406   PMID:16790436   PMID:16888629  
PMID:17015834   PMID:17020408   PMID:17046835   PMID:17145701   PMID:17254749   PMID:17259171   PMID:17439941   PMID:17462537   PMID:17510365   PMID:17603223   PMID:17636022   PMID:17822677  
PMID:17903176   PMID:17925401   PMID:17980616   PMID:18029348   PMID:18062931   PMID:18240569   PMID:18251510   PMID:18316592   PMID:18387606   PMID:18417180   PMID:18476723   PMID:18555005  
PMID:18757741   PMID:18829555   PMID:18981988   PMID:19321346   PMID:19409485   PMID:19424503   PMID:19424632   PMID:19489739   PMID:19608619   PMID:19615732   PMID:19706542   PMID:19818716  
PMID:19967722   PMID:20027226   PMID:20061377   PMID:20064547   PMID:20124447   PMID:20173742   PMID:20196834   PMID:20213688   PMID:20378532   PMID:20421418   PMID:20427290   PMID:20452972  
PMID:20463144   PMID:20484052   PMID:20486933   PMID:20495340   PMID:20534351   PMID:20534738   PMID:20562859   PMID:20599909   PMID:20600852   PMID:20801881   PMID:21044950   PMID:21145461  
PMID:21173573   PMID:21248763   PMID:21251164   PMID:21262351   PMID:21357422   PMID:21383067   PMID:21482715   PMID:21506927   PMID:21516116   PMID:21610322   PMID:21654808   PMID:21676886  
PMID:21693047   PMID:21795997   PMID:21873635   PMID:21875324   PMID:21897267   PMID:21900206   PMID:21903422   PMID:21926171   PMID:21988832   PMID:22089114   PMID:22125611   PMID:22157746  
PMID:22215675   PMID:22245129   PMID:22279539   PMID:22302998   PMID:22331464   PMID:22348534   PMID:22558124   PMID:22683333   PMID:22684020   PMID:22872865   PMID:22874821   PMID:22911784  
PMID:22943825   PMID:23045278   PMID:23047008   PMID:23052169   PMID:23056183   PMID:23061798   PMID:23066931   PMID:23075683   PMID:23117207   PMID:23188707   PMID:23213463   PMID:23242280  
PMID:23249627   PMID:23274085   PMID:23318954   PMID:23382044   PMID:23390006   PMID:23402259   PMID:23454126   PMID:23455180   PMID:23645672   PMID:23674500   PMID:23676014   PMID:23722832  
PMID:23724128   PMID:23727018   PMID:23766854   PMID:23795962   PMID:23824739   PMID:23857982   PMID:23938463   PMID:23986495   PMID:24011591   PMID:24067654   PMID:24089205   PMID:24102512  
PMID:24130096   PMID:24224011   PMID:24322982   PMID:24323028   PMID:24386210   PMID:24512214   PMID:24630991   PMID:24704364   PMID:24746615   PMID:24763052   PMID:24769730   PMID:24778252  
PMID:24844779   PMID:24896564   PMID:25016020   PMID:25036637   PMID:25114896   PMID:25236737   PMID:25269472   PMID:25281560   PMID:25332235   PMID:25358602   PMID:25416956   PMID:25447793  
PMID:25449014   PMID:25450970   PMID:25468996   PMID:25498967   PMID:25505069   PMID:25528168   PMID:25531322   PMID:25582950   PMID:25589623   PMID:25612817   PMID:25628777   PMID:25674242  
PMID:25739673   PMID:25742418   PMID:25841332   PMID:25878335   PMID:25879528   PMID:25896253   PMID:25900982   PMID:25910212   PMID:25926686   PMID:25939382   PMID:26043024   PMID:26078391  
PMID:26078718   PMID:26149655   PMID:26186194   PMID:26191276   PMID:26195781   PMID:26205490   PMID:26219975   PMID:26233704   PMID:26301506   PMID:26350055   PMID:26453926   PMID:26496610  
PMID:26517842   PMID:26527616   PMID:26536456   PMID:26551700   PMID:26551704   PMID:26551706   PMID:26602019   PMID:26638075   PMID:26649820   PMID:26657794   PMID:26673895   PMID:26698668  
PMID:26757824   PMID:26857210   PMID:26878775   PMID:26904936   PMID:26972000   PMID:26980696   PMID:26987716   PMID:26989875   PMID:27029077   PMID:27086966   PMID:27091842   PMID:27107014  
PMID:27170270   PMID:27212020   PMID:27323010   PMID:27387502   PMID:27432908   PMID:27497688   PMID:27497696   PMID:27554286   PMID:27573160   PMID:27601007   PMID:27621311   PMID:27631370  
PMID:27650414   PMID:27663261   PMID:27663899   PMID:27769838   PMID:27799074   PMID:27806574   PMID:27840932   PMID:27889639   PMID:28031328   PMID:28061435   PMID:28061437   PMID:28077445  
PMID:28115426   PMID:28128368   PMID:28129239   PMID:28186440   PMID:28190767   PMID:28205554   PMID:28237856   PMID:28247911   PMID:28333129   PMID:28380357   PMID:28398198   PMID:28416489  
PMID:28453520   PMID:28514442   PMID:28533375   PMID:28534518   PMID:28583303   PMID:28617433   PMID:28621229   PMID:28638054   PMID:28663241   PMID:28684421   PMID:28757910   PMID:28760781  
PMID:28820283   PMID:28839075   PMID:28842501   PMID:28846113   PMID:28865326   PMID:28899203   PMID:28939422   PMID:28967920   PMID:29033244   PMID:29053012   PMID:29255090   PMID:29306329  
PMID:29330291   PMID:29352001   PMID:29395067   PMID:29407955   PMID:29423025   PMID:29469959   PMID:29474635   PMID:29491746   PMID:29499228   PMID:29509190   PMID:29564676   PMID:29568061  
PMID:29569716   PMID:29590092   PMID:29615460   PMID:29675925   PMID:29717933   PMID:29743966   PMID:29792731   PMID:29955894   PMID:30058679   PMID:30071261   PMID:30108253   PMID:30122040  
PMID:30126895   PMID:30190310   PMID:30209081   PMID:30273379   PMID:30296569   PMID:30323285   PMID:30383469   PMID:30404004   PMID:30411339   PMID:30463901   PMID:30465941   PMID:30473361  
PMID:30500824   PMID:30576774   PMID:30581152   PMID:30623427   PMID:30639423   PMID:30641209   PMID:30692632   PMID:30711933   PMID:30765703   PMID:30778200   PMID:30793592   PMID:30811526  
PMID:30825237   PMID:30895499   PMID:30907226   PMID:30940648   PMID:30941643   PMID:31107239   PMID:31113469   PMID:31126053   PMID:31159323   PMID:31169361   PMID:31257023   PMID:31262713  
PMID:31315052   PMID:31316111   PMID:31319993   PMID:31323387   PMID:31343991   PMID:31385236   PMID:31421134   PMID:31444413   PMID:31446056   PMID:31455821   PMID:31491600   PMID:31495888  
PMID:31515488   PMID:31541481   PMID:31546975   PMID:31548347   PMID:31586073   PMID:31594818   PMID:31654068   PMID:31659154   PMID:31669760   PMID:31695040   PMID:31723608   PMID:31732153  
PMID:31737667   PMID:31741433   PMID:31753913   PMID:31763849   PMID:31796664   PMID:31852783   PMID:31891690   PMID:31941496   PMID:31952233   PMID:31967368   PMID:31980649   PMID:32024620  
PMID:32057361   PMID:32075457   PMID:32129710   PMID:32149426   PMID:32159343   PMID:32206121   PMID:32272498   PMID:32296183   PMID:32312757   PMID:32317087   PMID:32323805   PMID:32327612  
PMID:32336035   PMID:32341456   PMID:32369110   PMID:32434476   PMID:32469262   PMID:32513696   PMID:32571982   PMID:32574955   PMID:32576270   PMID:32579905   PMID:32589628   PMID:32605589  
PMID:32672401   PMID:32687490   PMID:32694731   PMID:32707033   PMID:32709715   PMID:32751080   PMID:32770279   PMID:32791852   PMID:32811277   PMID:32814053   PMID:32814905   PMID:32817372  
PMID:32828017   PMID:32839090   PMID:32854194   PMID:32866624   PMID:32897647   PMID:32911434   PMID:32916597   PMID:33031101   PMID:33060197   PMID:33087562   PMID:33130828   PMID:33168698  
PMID:33173725   PMID:33264619   PMID:33299528   PMID:33307193   PMID:33356808   PMID:33389358   PMID:33389540   PMID:33391509   PMID:33393215   PMID:33397898   PMID:33403898   PMID:33495821  
PMID:33545068   PMID:33603948   PMID:33895141   PMID:33899586   PMID:33907880   PMID:33916271   PMID:33961781   PMID:34065616   PMID:34079125   PMID:34169426   PMID:34229009   PMID:34328274  
PMID:34373451   PMID:34414377   PMID:34415206   PMID:34426758   PMID:34450259   PMID:34500370   PMID:34526504   PMID:34526658   PMID:34591612   PMID:34591642   PMID:34597346   PMID:34601169  
PMID:34611473   PMID:34617407   PMID:34663413   PMID:34704878   PMID:34709266   PMID:34709727   PMID:34728620   PMID:34740862   PMID:34758851   PMID:34761008   PMID:34774801   PMID:34815381  
PMID:34845361   PMID:34857952   PMID:34861061   PMID:34878901   PMID:34894983   PMID:34918396   PMID:34921137   PMID:34987184   PMID:35044719   PMID:35052618   PMID:35073209   PMID:35074488  
PMID:35088844   PMID:35101864   PMID:35123989   PMID:35137328   PMID:35139135   PMID:35216082   PMID:35216111   PMID:35216969   PMID:35271311   PMID:35380342   PMID:35420349   PMID:35509820  
PMID:35534896   PMID:35559673   PMID:35563538   PMID:35563695   PMID:35581292   PMID:35753125   PMID:35941131   PMID:35945195   PMID:35947662   PMID:35968244   PMID:36038548   PMID:36042628  
PMID:36114006   PMID:36142252   PMID:36163178   PMID:36165926   PMID:36181972   PMID:36193504   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36333711   PMID:36357400   PMID:36423379  
PMID:36507835   PMID:36526897   PMID:36538041   PMID:36613859   PMID:36657316   PMID:36688959   PMID:36719368   PMID:36730618   PMID:36779422   PMID:36882524   PMID:36913799   PMID:36929488  
PMID:36930785   PMID:36952345   PMID:36965071   PMID:37146513   PMID:37146698   PMID:37156295   PMID:37187359   PMID:37188737   PMID:37219487   PMID:37245083   PMID:37316499   PMID:37423156  
PMID:37432566   PMID:37463596   PMID:37480500   PMID:37499664   PMID:37615927   PMID:37633973   PMID:37689310   PMID:37714439   PMID:37800948   PMID:37858899   PMID:37879763   PMID:37889752  
PMID:38117590   PMID:38159594   PMID:38170368   PMID:38280479   PMID:38383479   PMID:38479222  


Genomics

Comparative Map Data
KEAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,486,125 - 10,503,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,486,125 - 10,503,558 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,596,801 - 10,614,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,457,796 - 10,475,054 (-)NCBINCBI36Build 36hg18NCBI36
Celera1910,491,509 - 10,508,764 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,176,101 - 10,192,927 (-)NCBIHuRef
CHM1_11910,597,575 - 10,614,823 (-)NCBICHM1_1
T2T-CHM13v2.01910,612,569 - 10,629,791 (-)NCBIT2T-CHM13v2.0
Keap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,141,026 - 21,150,628 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,141,026 - 21,150,657 (-)EnsemblGRCm39 Ensembl
GRCm38921,229,730 - 21,239,332 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,229,730 - 21,239,361 (-)EnsemblGRCm38mm10GRCm38
MGSCv37921,034,174 - 21,043,776 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36920,980,469 - 20,989,215 (-)NCBIMGSCv36mm8
Celera918,498,845 - 18,508,447 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.74NCBI
Keap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8828,044,555 - 28,054,042 (-)NCBIGRCr8
mRatBN7.2819,768,375 - 19,777,862 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,768,375 - 19,777,862 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx823,787,814 - 23,797,272 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0822,085,659 - 22,095,117 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0819,998,059 - 20,007,547 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0822,250,518 - 22,259,868 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl822,250,518 - 22,259,779 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0822,305,765 - 22,315,026 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4820,259,178 - 20,266,351 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1820,259,177 - 20,266,352 (-)NCBI
Celera821,161,976 - 21,171,435 (-)NCBICelera
Cytogenetic Map8q13NCBI
Keap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554951,704,695 - 1,711,290 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554951,704,695 - 1,711,339 (-)NCBIChiLan1.0ChiLan1.0
KEAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22015,404,143 - 15,421,611 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11914,402,746 - 14,420,092 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01910,037,544 - 10,055,091 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,701,298 - 10,717,664 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,701,303 - 10,717,604 (-)Ensemblpanpan1.1panPan2
KEAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,651,070 - 50,661,178 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2050,650,711 - 50,658,496 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,523,052 - 50,533,206 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02051,174,558 - 51,182,077 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,164,570 - 51,185,490 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,380,711 - 50,390,863 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,808,833 - 50,818,993 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,049,891 - 51,060,051 (+)NCBIUU_Cfam_GSD_1.0
Keap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,560,465 - 209,569,647 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659782,340 - 793,688 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936659785,059 - 793,775 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KEAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl269,276,336 - 69,294,382 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1269,280,940 - 69,290,267 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,634,153 - 69,643,610 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KEAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,515,789 - 9,526,699 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl69,515,416 - 9,522,797 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607410,471,467 - 10,484,386 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Keap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,580,861 - 2,595,275 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248282,580,812 - 2,595,023 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KEAP1
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 copy number gain See cases [RCV000136738] Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 copy number loss See cases [RCV000141708] Chr19:10330655..10920552 [GRCh38]
Chr19:10441331..11031228 [GRCh37]
Chr19:10302331..10892228 [NCBI36]
Chr19:19p13.2
likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:10584393-10938252)x3 copy number gain See cases [RCV000449205] Chr19:10584393..10938252 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 copy number loss See cases [RCV000446752] Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_203500.2(KEAP1):c.90G>A (p.Ala30=) single nucleotide variant not provided [RCV000893493] Chr19:10499944 [GRCh38]
Chr19:10610620 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_203500.2(KEAP1):c.1587C>T (p.Asp529=) single nucleotide variant not provided [RCV000933008] Chr19:10489313 [GRCh38]
Chr19:10599989 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.1106T>C (p.Val369Ala) single nucleotide variant not provided [RCV000900856] Chr19:10491796 [GRCh38]
Chr19:10602472 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.1211C>T (p.Ser404Leu) single nucleotide variant not provided [RCV000899554] Chr19:10491691 [GRCh38]
Chr19:10602367 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.700C>T (p.Arg234Trp) single nucleotide variant Squamous cell carcinoma of the head and neck [RCV000993800] Chr19:10492202 [GRCh38]
Chr19:10602878 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1116G>A (p.Gly372=) single nucleotide variant not provided [RCV000895824] Chr19:10491786 [GRCh38]
Chr19:10602462 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1 copy number loss not provided [RCV000849141] Chr19:10441330..10977962 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.93G>A (p.Val31=) single nucleotide variant not provided [RCV000949613] Chr19:10499941 [GRCh38]
Chr19:10610617 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_203500.2(KEAP1):c.1855CAG[1] (p.Gln620del) microsatellite not provided [RCV000953081] Chr19:10486667..10486669 [GRCh38]
Chr19:10597343..10597345 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.1524C>T (p.Ser508=) single nucleotide variant not provided [RCV000889380] Chr19:10489655 [GRCh38]
Chr19:10600331 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.1326-10G>A single nucleotide variant not provided [RCV000957882] Chr19:10489863 [GRCh38]
Chr19:10600539 [GRCh37]
Chr19:19p13.2
benign
NM_203500.2(KEAP1):c.1224dup (p.Met409fs) duplication Lung cancer [RCV002465356] Chr19:10491677..10491678 [GRCh38]
Chr19:10602353..10602354 [GRCh37]
Chr19:19p13.2
pathogenic
NM_203500.2(KEAP1):c.455T>C (p.Val152Ala) single nucleotide variant Lung cancer [RCV002465270] Chr19:10499579 [GRCh38]
Chr19:10610255 [GRCh37]
Chr19:19p13.2
pathogenic
NM_203500.2(KEAP1):c.1708+2T>A single nucleotide variant not provided [RCV001777193] Chr19:10489190 [GRCh38]
Chr19:10599866 [GRCh37]
Chr19:19p13.2
not provided
NM_203500.2(KEAP1):c.1709-1G>T single nucleotide variant not provided [RCV001731005] Chr19:10486819 [GRCh38]
Chr19:10597495 [GRCh37]
Chr19:19p13.2
not provided
NM_203500.2(KEAP1):c.1708+1G>T single nucleotide variant not provided [RCV001728183] Chr19:10489191 [GRCh38]
Chr19:10599867 [GRCh37]
Chr19:19p13.2
not provided
NM_203500.2(KEAP1):c.1709-2A>C single nucleotide variant not provided [RCV001731237] Chr19:10486820 [GRCh38]
Chr19:10597496 [GRCh37]
Chr19:19p13.2
not provided
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10584393-10938252) copy number gain not specified [RCV002052674] Chr19:10584393..10938252 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.814C>T (p.Arg272Cys) single nucleotide variant not specified [RCV002223173] Chr19:10492088 [GRCh38]
Chr19:10602764 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.442_508del (p.Gly148fs) deletion Hepatocellular carcinoma [RCV002302818] Chr19:10499526..10499592 [GRCh38]
Chr19:10610202..10610268 [GRCh37]
Chr19:19p13.2
pathogenic
NM_203500.2(KEAP1):c.512G>A (p.Cys171Tyr) single nucleotide variant Hepatocellular carcinoma [RCV002302749] Chr19:10499522 [GRCh38]
Chr19:10610198 [GRCh37]
Chr19:19p13.2
pathogenic
NM_203500.2(KEAP1):c.1455T>G (p.Asn485Lys) single nucleotide variant Inborn genetic diseases [RCV002728900] Chr19:10489724 [GRCh38]
Chr19:10600400 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.89C>T (p.Ala30Val) single nucleotide variant Inborn genetic diseases [RCV002887128] Chr19:10499945 [GRCh38]
Chr19:10610621 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1780G>A (p.Val594Met) single nucleotide variant Inborn genetic diseases [RCV002758053] Chr19:10486747 [GRCh38]
Chr19:10597423 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.667C>A (p.Leu223Met) single nucleotide variant Inborn genetic diseases [RCV002872894] Chr19:10492235 [GRCh38]
Chr19:10602911 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.44G>A (p.Arg15Gln) single nucleotide variant Inborn genetic diseases [RCV002931784] Chr19:10499990 [GRCh38]
Chr19:10610666 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1639G>C (p.Val547Leu) single nucleotide variant Inborn genetic diseases [RCV002985089] Chr19:10489261 [GRCh38]
Chr19:10599937 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.400G>A (p.Glu134Lys) single nucleotide variant Inborn genetic diseases [RCV002668259] Chr19:10499634 [GRCh38]
Chr19:10610310 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1495A>G (p.Met499Val) single nucleotide variant Inborn genetic diseases [RCV002748192] Chr19:10489684 [GRCh38]
Chr19:10600360 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1222C>A (p.Pro408Thr) single nucleotide variant Inborn genetic diseases [RCV002655404] Chr19:10491680 [GRCh38]
Chr19:10602356 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1111G>A (p.Gly371Ser) single nucleotide variant Inborn genetic diseases [RCV003178280] Chr19:10491791 [GRCh38]
Chr19:10602467 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1318G>A (p.Val440Met) single nucleotide variant Inborn genetic diseases [RCV003183308] Chr19:10491584 [GRCh38]
Chr19:10602260 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.992C>T (p.Ala331Val) single nucleotide variant Inborn genetic diseases [RCV003285230] Chr19:10491910 [GRCh38]
Chr19:10602586 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1423G>A (p.Val475Met) single nucleotide variant Inborn genetic diseases [RCV003367810] Chr19:10489756 [GRCh38]
Chr19:10600432 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1319T>C (p.Val440Ala) single nucleotide variant Inborn genetic diseases [RCV003370626] Chr19:10491583 [GRCh38]
Chr19:10602259 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.146A>G (p.Asn49Ser) single nucleotide variant Inborn genetic diseases [RCV003386030] Chr19:10499888 [GRCh38]
Chr19:10610564 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3 copy number gain not provided [RCV003485192] Chr19:10477778..11154144 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_203500.2(KEAP1):c.1152C>T (p.Pro384=) single nucleotide variant not provided [RCV003423329] Chr19:10491750 [GRCh38]
Chr19:10602426 [GRCh37]
Chr19:19p13.2
likely benign
NM_203500.2(KEAP1):c.471C>T (p.Asn157=) single nucleotide variant not provided [RCV003421825] Chr19:10499563 [GRCh38]
Chr19:10610239 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Ahsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21914820
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21926171
MIR141hsa-miR-141-3pOncomiRDBexternal_infoNANA23045278

Predicted Target Of
Summary Value
Count of predictions:2493
Count of miRNA genes:845
Interacting mature miRNAs:1019
Transcripts:ENST00000171111, ENST00000393623, ENST00000585845, ENST00000588024, ENST00000590237, ENST00000590593, ENST00000591039, ENST00000591419, ENST00000592055, ENST00000592478
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.

Markers in Region
G29193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,596,860 - 10,597,011UniSTSGRCh37
Build 361910,457,860 - 10,458,011RGDNCBI36
Celera1910,491,573 - 10,491,724RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,176,165 - 10,176,316UniSTS
RH25355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,597,341 - 10,597,454UniSTSGRCh37
Build 361910,458,341 - 10,458,454RGDNCBI36
Celera1910,492,054 - 10,492,167RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,176,646 - 10,176,759UniSTS
GeneMap99-GB4 RH Map1967.91UniSTS
SHGC-63493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,610,547 - 10,610,744UniSTSGRCh37
Build 361910,471,547 - 10,471,744RGDNCBI36
Celera1910,505,257 - 10,505,454RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,189,535 - 10,189,732UniSTS
SHGC-133060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,610,501 - 10,610,744UniSTSGRCh37
Build 361910,471,501 - 10,471,744RGDNCBI36
Celera1910,505,211 - 10,505,454RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,189,489 - 10,189,732UniSTS
TNG Radiation Hybrid Map193419.0UniSTS
Bda20d07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,596,879 - 10,596,994UniSTSGRCh37
Build 361910,457,879 - 10,457,994RGDNCBI36
Celera1910,491,592 - 10,491,707RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,176,184 - 10,176,299UniSTS
GeneMap99-GB4 RH Map1967.91UniSTS


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 1
Medium 2413 2523 1705 606 1533 448 4354 2110 3558 396 1446 1598 171 1204 2787 4
Low 26 468 21 18 418 17 2 87 176 23 13 13 4 1 1 2 2
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF361886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU130822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG770405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000171111   ⟹   ENSP00000171111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,486,125 - 10,503,356 (-)Ensembl
RefSeq Acc Id: ENST00000393623   ⟹   ENSP00000377245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,486,126 - 10,502,896 (-)Ensembl
RefSeq Acc Id: ENST00000585845   ⟹   ENSP00000466704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,491,999 - 10,503,558 (-)Ensembl
RefSeq Acc Id: ENST00000588024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,491,947 - 10,499,509 (-)Ensembl
RefSeq Acc Id: ENST00000590237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,486,612 - 10,489,435 (-)Ensembl
RefSeq Acc Id: ENST00000590593   ⟹   ENSP00000467601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,486,718 - 10,491,880 (-)Ensembl
RefSeq Acc Id: ENST00000591039   ⟹   ENSP00000465024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,499,398 - 10,502,685 (-)Ensembl
RefSeq Acc Id: ENST00000591419   ⟹   ENSP00000465126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,499,395 - 10,502,687 (-)Ensembl
RefSeq Acc Id: ENST00000592055   ⟹   ENSP00000468671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,492,064 - 10,503,186 (-)Ensembl
RefSeq Acc Id: ENST00000592478   ⟹   ENSP00000468014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,486,125 - 10,491,720 (-)Ensembl
RefSeq Acc Id: NM_012289   ⟹   NP_036421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,486,125 - 10,502,771 (-)NCBI
GRCh371910,596,796 - 10,614,054 (-)ENTREZGENE
Build 361910,457,796 - 10,474,481 (-)NCBI Archive
HuRef1910,176,101 - 10,192,927 (-)ENTREZGENE
CHM1_11910,597,575 - 10,614,250 (-)NCBI
T2T-CHM13v2.01910,612,569 - 10,629,206 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203500   ⟹   NP_987096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,486,125 - 10,503,356 (-)NCBI
GRCh371910,596,796 - 10,614,054 (-)ENTREZGENE
Build 361910,457,796 - 10,475,054 (-)NCBI Archive
HuRef1910,176,101 - 10,192,927 (-)ENTREZGENE
CHM1_11910,597,575 - 10,614,823 (-)NCBI
T2T-CHM13v2.01910,612,569 - 10,629,791 (-)NCBI
Sequence:
RefSeq Acc Id: NP_987096   ⟸   NM_203500
- UniProtKB: Q8WTX1 (UniProtKB/Swiss-Prot),   Q6LEP0 (UniProtKB/Swiss-Prot),   B3KPD5 (UniProtKB/Swiss-Prot),   Q9BPY9 (UniProtKB/Swiss-Prot),   Q14145 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036421   ⟸   NM_012289
- UniProtKB: Q8WTX1 (UniProtKB/Swiss-Prot),   Q6LEP0 (UniProtKB/Swiss-Prot),   B3KPD5 (UniProtKB/Swiss-Prot),   Q9BPY9 (UniProtKB/Swiss-Prot),   Q14145 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000466704   ⟸   ENST00000585845
RefSeq Acc Id: ENSP00000377245   ⟸   ENST00000393623
RefSeq Acc Id: ENSP00000467601   ⟸   ENST00000590593
RefSeq Acc Id: ENSP00000465126   ⟸   ENST00000591419
RefSeq Acc Id: ENSP00000465024   ⟸   ENST00000591039
RefSeq Acc Id: ENSP00000468671   ⟸   ENST00000592055
RefSeq Acc Id: ENSP00000171111   ⟸   ENST00000171111
RefSeq Acc Id: ENSP00000468014   ⟸   ENST00000592478
Protein Domains
BACK   BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14145-F1-model_v2 AlphaFold Q14145 1-624 view protein structure

Promoters
RGD ID:6795697
Promoter ID:HG_KWN:28859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   NB4
Transcripts:UC002MOP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,463,491 - 10,463,991 (-)MPROMDB
RGD ID:6795696
Promoter ID:HG_KWN:28860
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012289,   NM_203500
Position:
Human AssemblyChrPosition (strand)Source
Build 361910,474,276 - 10,474,776 (-)MPROMDB
RGD ID:7238509
Promoter ID:EPDNEW_H25000
Type:initiation region
Name:KEAP1_1
Description:kelch like ECH associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25001  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,502,726 - 10,502,786EPDNEW
RGD ID:7238511
Promoter ID:EPDNEW_H25001
Type:initiation region
Name:KEAP1_2
Description:kelch like ECH associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25000  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,503,732 - 10,503,792EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23177 AgrOrtholog
COSMIC KEAP1 COSMIC
Ensembl Genes ENSG00000079999 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000171111 ENTREZGENE
  ENST00000171111.10 UniProtKB/Swiss-Prot
  ENST00000393623 ENTREZGENE
  ENST00000393623.6 UniProtKB/Swiss-Prot
  ENST00000585845.1 UniProtKB/TrEMBL
  ENST00000590593.1 UniProtKB/TrEMBL
  ENST00000591039.1 UniProtKB/TrEMBL
  ENST00000591419.2 UniProtKB/TrEMBL
  ENST00000592055.2 UniProtKB/TrEMBL
  ENST00000592478.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.420 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000079999 GTEx
HGNC ID HGNC:23177 ENTREZGENE
Human Proteome Map KEAP1 Human Proteome Map
InterPro BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB-kelch_protein UniProtKB/Swiss-Prot
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KEAP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KEAP1_BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9817 UniProtKB/Swiss-Prot
NCBI Gene 9817 ENTREZGENE
OMIM 606016 OMIM
PANTHER ACTIN-BINDING PROTEIN IPP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KELCH PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KELCH REPEAT SUPERFAMILY PROTEIN UniProtKB/TrEMBL
  OS02G0202900 PROTEIN UniProtKB/TrEMBL
  PTHR24412:SF162 UniProtKB/TrEMBL
Pfam BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134887774 PharmGKB
PIRSF Kelch-like_protein_gigaxonin UniProtKB/Swiss-Prot
PRINTS KELCHREPEAT UniProtKB/TrEMBL
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BACK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPD5 ENTREZGENE
  K7EJ49_HUMAN UniProtKB/TrEMBL
  K7EJD8_HUMAN UniProtKB/TrEMBL
  K7EMY1_HUMAN UniProtKB/TrEMBL
  K7EPZ3_HUMAN UniProtKB/TrEMBL
  K7EQX2_HUMAN UniProtKB/TrEMBL
  K7ESE0_HUMAN UniProtKB/TrEMBL
  KEAP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6LEP0 ENTREZGENE
  Q8WTX1 ENTREZGENE
  Q9BPY9 ENTREZGENE
UniProt Secondary B3KPD5 UniProtKB/Swiss-Prot
  Q6LEP0 UniProtKB/Swiss-Prot
  Q8WTX1 UniProtKB/Swiss-Prot
  Q9BPY9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 KEAP1  kelch like ECH associated protein 1  KEAP1  kelch-like ECH-associated protein 1  Symbol and/or name change 5135510 APPROVED