NFE2L1 (NFE2 like bZIP transcription factor 1) - Rat Genome Database

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Gene: NFE2L1 (NFE2 like bZIP transcription factor 1) Homo sapiens
Analyze
Symbol: NFE2L1
Name: NFE2 like bZIP transcription factor 1
RGD ID: 1323705
HGNC Page HGNC:7781
Description: Enables several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and protein heterodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of odontoblast differentiation. Located in cytosol; endoplasmic reticulum membrane; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: endoplasmic reticulum membrane sensor NFE2L1; FLJ00380; LCR-F1; locus control region-factor 1; NF-E2-related factor 1; NFE2-related factor 1; NRF-1; NRF1; nuclear factor (erythroid-derived 2)-like 1; nuclear factor erythroid 2-related factor 1; nuclear factor, erythroid 2 like 1; nuclear factor, erythroid 2-like 1; nuclear factor, erythroid derived 2, like 1; TCF-11; TCF11; transcription factor 11 (basic leucine zipper type); transcription factor HBZ17; transcription factor LCR-F1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: NRF1 (Gene ID: 4899) and NFE2L1 (Gene ID: 4779) share the NRF1 symbol/alias in common. NRF1 is a widely used alternative name for nuclear factor, erythroid 2 like 1 (NFE2L1), which can be confused with the official symbol for nuclear respiratory factor 1 (NRF1). [05 Jul 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381748,048,359 - 48,061,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,048,329 - 48,061,545 (+)EnsemblGRCh38hg38GRCh38
GRCh371746,125,721 - 46,138,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361743,480,745 - 43,493,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341743,480,744 - 43,493,840NCBI
Celera1742,578,502 - 42,591,724 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1741,494,079 - 41,507,301 (+)NCBIHuRef
CHM1_11746,190,680 - 46,203,900 (+)NCBICHM1_1
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-tert-butylhydroquinone  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrolein  (EXP)
aldehydo-D-glucose  (EXP)
antimycin A  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
brefeldin A  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxomicin  (EXP,ISO)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
geraniol  (EXP)
glafenine  (ISO)
glucose  (EXP)
hydrogen peroxide  (EXP)
hydroxytyrosol  (EXP)
icariin  (ISO)
indometacin  (EXP)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (ISO)
L-methionine  (ISO)
metformin  (EXP)
methidathion  (ISO)
methotrexate  (EXP)
methylarsonic acid  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
nicotine  (EXP)
p-toluidine  (ISO)
paracetamol  (EXP)
patulin  (EXP,ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
sodium arsenite  (EXP,ISO)
sulindac  (EXP,ISO)
testosterone  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
triticonazole  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. New targets of urocortin-mediated cardioprotection. Barry SP, etal., J Mol Endocrinol. 2010 Aug;45(2):69-85. doi: 10.1677/JME-09-0148. Epub 2010 May 25.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7557987   PMID:8001966   PMID:8036168   PMID:8248256   PMID:8889548   PMID:8932385   PMID:9150357   PMID:9421508   PMID:9501099   PMID:9826775   PMID:9872330   PMID:11025215  
PMID:12358155   PMID:12477932   PMID:12729924   PMID:12805554   PMID:15489334   PMID:16344560   PMID:16687406   PMID:16806233   PMID:17609210   PMID:19274049   PMID:20102225   PMID:20211142  
PMID:20237496   PMID:20385086   PMID:20629635   PMID:20932482   PMID:20935630   PMID:21262351   PMID:21873635   PMID:21953459   PMID:21988832   PMID:22216197   PMID:22500024   PMID:22932898  
PMID:22949513   PMID:22971132   PMID:23144760   PMID:23414517   PMID:23623971   PMID:23661758   PMID:23816881   PMID:24024152   PMID:24448410   PMID:24462598   PMID:24466341   PMID:25130429  
PMID:25515538   PMID:25637874   PMID:25900982   PMID:26186194   PMID:26231763   PMID:26254094   PMID:26268886   PMID:26496610   PMID:26760575   PMID:26841866   PMID:26947393   PMID:27065079  
PMID:27107012   PMID:27345029   PMID:27416755   PMID:27528193   PMID:28514442   PMID:28566324   PMID:28625484   PMID:28986522   PMID:29255090   PMID:29421237   PMID:29615460   PMID:29941490  
PMID:29983246   PMID:30126895   PMID:30177525   PMID:30287392   PMID:30415952   PMID:30755497   PMID:30804394   PMID:30814566   PMID:31628195   PMID:31687076   PMID:32188015   PMID:32366381  
PMID:32513696   PMID:32521225   PMID:32924844   PMID:33376579   PMID:33933455   PMID:33961781   PMID:34052660   PMID:34489413   PMID:34649278   PMID:34857952   PMID:34902807   PMID:35044719  
PMID:35112409   PMID:35271393   PMID:35274224   PMID:35613680   PMID:36163178   PMID:36170818   PMID:37398436   PMID:37473701   PMID:37658135   PMID:37681897   PMID:37739987   PMID:37848756  
PMID:37996059   PMID:38011090   PMID:38656405  


Genomics

Comparative Map Data
NFE2L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381748,048,359 - 48,061,545 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1748,048,329 - 48,061,545 (+)EnsemblGRCh38hg38GRCh38
GRCh371746,125,721 - 46,138,907 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361743,480,745 - 43,493,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341743,480,744 - 43,493,840NCBI
Celera1742,578,502 - 42,591,724 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1741,494,079 - 41,507,301 (+)NCBIHuRef
CHM1_11746,190,680 - 46,203,900 (+)NCBICHM1_1
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBIT2T-CHM13v2.0
Nfe2l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391196,708,239 - 96,720,810 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1196,708,240 - 96,720,794 (-)EnsemblGRCm39 Ensembl
GRCm381196,817,414 - 96,829,968 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1196,817,414 - 96,829,968 (-)EnsemblGRCm38mm10GRCm38
MGSCv371196,678,728 - 96,691,282 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361196,633,521 - 96,644,045 (-)NCBIMGSCv36mm8
Celera11106,466,769 - 106,479,303 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1160.12NCBI
Nfe2l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81082,296,824 - 82,309,472 (-)NCBIGRCr8
mRatBN7.21081,796,055 - 81,812,926 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1081,800,366 - 81,832,318 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1086,748,076 - 86,760,626 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01086,246,127 - 86,258,677 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01081,638,722 - 81,651,272 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01084,686,762 - 84,699,313 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1084,682,460 - 84,698,886 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01084,479,677 - 84,492,242 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41085,570,238 - 85,577,636 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11085,588,909 - 85,601,415 (-)NCBI
Celera1080,562,053 - 80,574,604 (-)NCBICelera
Cytogenetic Map10q31NCBI
Nfe2l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545113,088,906 - 13,099,839 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545113,088,680 - 13,099,839 (-)NCBIChiLan1.0ChiLan1.0
NFE2L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21917,042,363 - 17,055,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11719,007,939 - 19,021,206 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0179,476,482 - 9,489,661 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1179,657,847 - 9,671,040 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl179,657,847 - 9,671,040 (-)Ensemblpanpan1.1panPan2
NFE2L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1924,344,697 - 24,356,918 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl924,346,585 - 24,362,646 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha923,810,726 - 23,822,715 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0925,138,680 - 25,150,670 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl925,138,689 - 25,156,398 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1923,908,140 - 23,920,129 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0924,168,769 - 24,180,752 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0924,296,588 - 24,308,159 (+)NCBIUU_Cfam_GSD_1.0
Nfe2l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560223,795,986 - 23,810,579 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649013,266,347 - 13,279,206 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649013,265,269 - 13,279,164 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NFE2L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1224,303,399 - 24,316,763 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11224,303,381 - 24,316,765 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21224,300,897 - 24,308,045 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NFE2L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11668,449,601 - 68,463,030 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1668,449,898 - 68,461,190 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607739,501,780 - 39,515,234 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nfe2l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247954,652,637 - 4,662,454 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247954,652,221 - 4,663,341 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NFE2L1
41 total Variants

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
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33
pathogenic
NM_003204.2(NFE2L1):c.1767G>T (p.Leu589=) single nucleotide variant Malignant melanoma [RCV000063237] Chr17:48059089 [GRCh38]
Chr17:46136451 [GRCh37]
Chr17:43491450 [NCBI36]
Chr17:17q21.32
not provided
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
GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1 copy number loss See cases [RCV000142900] Chr17:47986886..49329397 [GRCh38]
Chr17:46064252..47406759 [GRCh37]
Chr17:43419251..44761758 [NCBI36]
Chr17:17q21.32-21.33
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
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
NM_003204.3(NFE2L1):c.623G>A (p.Arg208Gln) single nucleotide variant not specified [RCV004292217] Chr17:48056498 [GRCh38]
Chr17:46133860 [GRCh37]
Chr17:17q21.32
likely benign
NM_003204.3(NFE2L1):c.590G>A (p.Arg197His) single nucleotide variant not specified [RCV004281728] Chr17:48056465 [GRCh38]
Chr17:46133827 [GRCh37]
Chr17:17q21.32
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(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [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
NM_003204.3(NFE2L1):c.147C>T (p.Ala49=) single nucleotide variant not provided [RCV000967456] Chr17:48051265 [GRCh38]
Chr17:46128627 [GRCh37]
Chr17:17q21.32
benign
NM_003204.3(NFE2L1):c.814-7G>A single nucleotide variant not provided [RCV000937617] Chr17:48057337 [GRCh38]
Chr17:46134699 [GRCh37]
Chr17:17q21.32
likely benign
NM_003204.3(NFE2L1):c.1855C>T (p.Arg619Ter) single nucleotide variant Global developmental delay [RCV002267777] Chr17:48059177 [GRCh38]
Chr17:46136539 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17q21.32(chr17:44949883-46507482) copy number gain PNPO-related disorders [RCV003236737] Chr17:44949883..46507482 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_003204.3(NFE2L1):c.1336A>G (p.Met446Val) single nucleotide variant not specified [RCV004307227] Chr17:48058658 [GRCh38]
Chr17:46136020 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.197G>T (p.Gly66Val) single nucleotide variant not specified [RCV004327581] Chr17:48051315 [GRCh38]
Chr17:46128677 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.581A>G (p.Tyr194Cys) single nucleotide variant not specified [RCV004228751] Chr17:48056456 [GRCh38]
Chr17:46133818 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.634G>A (p.Glu212Lys) single nucleotide variant not specified [RCV004207571] Chr17:48056509 [GRCh38]
Chr17:46133871 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.244C>T (p.Arg82Trp) single nucleotide variant not specified [RCV004235353] Chr17:48051362 [GRCh38]
Chr17:46128724 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.37C>T (p.Leu13Phe) single nucleotide variant not specified [RCV004151786] Chr17:48051155 [GRCh38]
Chr17:46128517 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.589C>T (p.Arg197Cys) single nucleotide variant not specified [RCV004207310] Chr17:48056464 [GRCh38]
Chr17:46133826 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1635G>T (p.Gln545His) single nucleotide variant not specified [RCV004228594] Chr17:48058957 [GRCh38]
Chr17:46136319 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1675C>G (p.Pro559Ala) single nucleotide variant not specified [RCV004135401] Chr17:48058997 [GRCh38]
Chr17:46136359 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.770T>G (p.Leu257Arg) single nucleotide variant not specified [RCV004175613] Chr17:48057078 [GRCh38]
Chr17:46134440 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.421C>T (p.Arg141Ter) single nucleotide variant not provided [RCV002844045] Chr17:48051539 [GRCh38]
Chr17:46128901 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.700A>T (p.Thr234Ser) single nucleotide variant not specified [RCV004110982] Chr17:48056575 [GRCh38]
Chr17:46133937 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.661G>A (p.Ala221Thr) single nucleotide variant not specified [RCV004148610] Chr17:48056536 [GRCh38]
Chr17:46133898 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2236G>C (p.Gly746Arg) single nucleotide variant not specified [RCV004114354] Chr17:48059558 [GRCh38]
Chr17:46136920 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1678G>A (p.Ala560Thr) single nucleotide variant not specified [RCV004135402] Chr17:48059000 [GRCh38]
Chr17:46136362 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2084G>A (p.Arg695Gln) single nucleotide variant not specified [RCV004181200] Chr17:48059406 [GRCh38]
Chr17:46136768 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2051G>A (p.Arg684His) single nucleotide variant not specified [RCV004239300] Chr17:48059373 [GRCh38]
Chr17:46136735 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1982G>A (p.Arg661Gln) single nucleotide variant not specified [RCV004175938] Chr17:48059304 [GRCh38]
Chr17:46136666 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.649G>T (p.Ala217Ser) single nucleotide variant not specified [RCV004223527] Chr17:48056524 [GRCh38]
Chr17:46133886 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.767G>T (p.Cys256Phe) single nucleotide variant not specified [RCV004212344] Chr17:48057075 [GRCh38]
Chr17:46134437 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1658G>A (p.Arg553His) single nucleotide variant not specified [RCV004223617] Chr17:48058980 [GRCh38]
Chr17:46136342 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.110C>T (p.Pro37Leu) single nucleotide variant not specified [RCV004075403] Chr17:48051228 [GRCh38]
Chr17:46128590 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1466C>T (p.Ser489Phe) single nucleotide variant not specified [RCV004081712] Chr17:48058788 [GRCh38]
Chr17:46136150 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.879A>C (p.Gln293His) single nucleotide variant not specified [RCV004133661] Chr17:48057409 [GRCh38]
Chr17:46134771 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.565C>T (p.Arg189Cys) single nucleotide variant not specified [RCV004322881] Chr17:48056440 [GRCh38]
Chr17:46133802 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1225G>A (p.Gly409Ser) single nucleotide variant not specified [RCV004259227] Chr17:48058547 [GRCh38]
Chr17:46135909 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.418G>C (p.Val140Leu) single nucleotide variant not specified [RCV004262791] Chr17:48051536 [GRCh38]
Chr17:46128898 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.632G>A (p.Gly211Asp) single nucleotide variant not specified [RCV004282682] Chr17:48056507 [GRCh38]
Chr17:46133869 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1057C>G (p.Pro353Ala) single nucleotide variant not specified [RCV004270410] Chr17:48058379 [GRCh38]
Chr17:46135741 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1319G>T (p.Gly440Val) single nucleotide variant not specified [RCV004258952] Chr17:48058641 [GRCh38]
Chr17:46136003 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1657C>T (p.Arg553Cys) single nucleotide variant not specified [RCV004346104] Chr17:48058979 [GRCh38]
Chr17:46136341 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.847G>C (p.Val283Leu) single nucleotide variant not specified [RCV004345053] Chr17:48057377 [GRCh38]
Chr17:46134739 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.109C>T (p.Pro37Ser) single nucleotide variant not specified [RCV004486929] Chr17:48051227 [GRCh38]
Chr17:46128589 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1204A>G (p.Thr402Ala) single nucleotide variant not specified [RCV004486935] Chr17:48058526 [GRCh38]
Chr17:46135888 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2038C>A (p.Leu680Met) single nucleotide variant not specified [RCV004486972] Chr17:48059360 [GRCh38]
Chr17:46136722 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2104G>C (p.Glu702Gln) single nucleotide variant not specified [RCV004486980] Chr17:48059426 [GRCh38]
Chr17:46136788 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.2285G>A (p.Arg762Gln) single nucleotide variant not specified [RCV004486986] Chr17:48059607 [GRCh38]
Chr17:46136969 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1759G>C (p.Ala587Pro) single nucleotide variant not specified [RCV004486963] Chr17:48059081 [GRCh38]
Chr17:46136443 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.242G>A (p.Arg81Gln) single nucleotide variant not specified [RCV004486998] Chr17:48051360 [GRCh38]
Chr17:46128722 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.419T>C (p.Val140Ala) single nucleotide variant not specified [RCV004487008] Chr17:48051537 [GRCh38]
Chr17:46128899 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.1760C>T (p.Ala587Val) single nucleotide variant not specified [RCV004486967] Chr17:48059082 [GRCh38]
Chr17:46136444 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003204.3(NFE2L1):c.241C>T (p.Arg81Trp) single nucleotide variant not specified [RCV004486990] Chr17:48051359 [GRCh38]
Chr17:46128721 [GRCh37]
Chr17:17q21.32
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoqRT-PCR//MicroarrayFunctional MTI (Weak)19168627

Predicted Target Of
Summary Value
Count of predictions:8507
Count of miRNA genes:1103
Interacting mature miRNAs:1408
Transcripts:ENST00000357480, ENST00000361665, ENST00000362042, ENST00000536222, ENST00000577411, ENST00000577431, ENST00000579481, ENST00000579537, ENST00000579889, ENST00000580037, ENST00000580050, ENST00000581319, ENST00000581441, ENST00000582155, ENST00000582574, ENST00000583060, ENST00000583210, ENST00000583378, ENST00000584137, ENST00000584634, ENST00000585062, ENST00000585291, ENST00000585299
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
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
GDB:451565  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q21.3UniSTS


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 81 82 1 1 81
Medium 2432 2796 1722 622 1757 464 4274 2108 3706 417 1447 1607 171 1204 2707 4
Low 7 195 4 2 194 1 2 7 28 2 12 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL530578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM971272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM983473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA230932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB097304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U08853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X84066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000357480   ⟹   ENSP00000350072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,370 - 48,061,479 (+)Ensembl
RefSeq Acc Id: ENST00000361665   ⟹   ENSP00000355190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,773 - 48,061,480 (+)Ensembl
RefSeq Acc Id: ENST00000362042   ⟹   ENSP00000354855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,359 - 48,061,545 (+)Ensembl
RefSeq Acc Id: ENST00000536222   ⟹   ENSP00000445811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,710 - 48,059,653 (+)Ensembl
RefSeq Acc Id: ENST00000577411   ⟹   ENSP00000462610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,481 - 48,058,461 (+)Ensembl
RefSeq Acc Id: ENST00000577431   ⟹   ENSP00000463836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,920 - 48,058,307 (+)Ensembl
RefSeq Acc Id: ENST00000579481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,782 - 48,051,074 (+)Ensembl
RefSeq Acc Id: ENST00000579537   ⟹   ENSP00000462444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,328 - 48,056,444 (+)Ensembl
RefSeq Acc Id: ENST00000579889   ⟹   ENSP00000462003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,329 - 48,051,146 (+)Ensembl
RefSeq Acc Id: ENST00000580037   ⟹   ENSP00000463744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,055,952 - 48,058,416 (+)Ensembl
RefSeq Acc Id: ENST00000580050   ⟹   ENSP00000464203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,587 - 48,056,588 (+)Ensembl
RefSeq Acc Id: ENST00000581319   ⟹   ENSP00000461971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,058,877 - 48,060,050 (+)Ensembl
RefSeq Acc Id: ENST00000581441   ⟹   ENSP00000462253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,049,132 - 48,051,129 (+)Ensembl
RefSeq Acc Id: ENST00000582155   ⟹   ENSP00000464446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,675 - 48,059,833 (+)Ensembl
RefSeq Acc Id: ENST00000582574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,783 - 48,051,097 (+)Ensembl
RefSeq Acc Id: ENST00000583060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,607 - 48,051,041 (+)Ensembl
RefSeq Acc Id: ENST00000583210   ⟹   ENSP00000464018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,328 - 48,058,342 (+)Ensembl
RefSeq Acc Id: ENST00000583378   ⟹   ENSP00000463291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,692 - 48,059,936 (+)Ensembl
RefSeq Acc Id: ENST00000584137   ⟹   ENSP00000463657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,359 - 48,051,366 (+)Ensembl
RefSeq Acc Id: ENST00000584634   ⟹   ENSP00000462971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,054,550 - 48,058,331 (+)Ensembl
RefSeq Acc Id: ENST00000585062   ⟹   ENSP00000463960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,784 - 48,051,416 (+)Ensembl
RefSeq Acc Id: ENST00000585291   ⟹   ENSP00000461960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,363 - 48,061,487 (+)Ensembl
RefSeq Acc Id: ENST00000585299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1748,048,478 - 48,051,072 (+)Ensembl
RefSeq Acc Id: NM_001330261   ⟹   NP_001317190
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,359 - 48,061,545 (+)NCBI
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330262   ⟹   NP_001317191
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,359 - 48,061,545 (+)NCBI
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003204   ⟹   NP_003195
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,359 - 48,061,545 (+)NCBI
GRCh371746,125,686 - 46,138,907 (+)ENTREZGENE
Build 361743,480,745 - 43,493,841 (+)NCBI Archive
HuRef1741,494,079 - 41,507,301 (+)ENTREZGENE
CHM1_11746,190,680 - 46,203,900 (+)NCBI
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257410   ⟹   XP_005257467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,781 - 48,061,545 (+)NCBI
GRCh371746,125,686 - 46,138,907 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257411   ⟹   XP_005257468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,781 - 48,061,545 (+)NCBI
GRCh371746,125,686 - 46,138,907 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257412   ⟹   XP_005257469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,781 - 48,061,545 (+)NCBI
GRCh371746,125,686 - 46,138,907 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257415   ⟹   XP_005257472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,781 - 48,061,545 (+)NCBI
GRCh371746,125,686 - 46,138,907 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436148   ⟹   XP_047292104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,359 - 48,061,545 (+)NCBI
RefSeq Acc Id: XM_054316267   ⟹   XP_054172242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01748,910,499 - 48,923,361 (+)NCBI
RefSeq Acc Id: XM_054316268   ⟹   XP_054172243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01748,910,499 - 48,923,361 (+)NCBI
RefSeq Acc Id: XM_054316269   ⟹   XP_054172244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01748,910,499 - 48,923,361 (+)NCBI
RefSeq Acc Id: XM_054316270   ⟹   XP_054172245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01748,910,499 - 48,923,361 (+)NCBI
RefSeq Acc Id: XM_054316271   ⟹   XP_054172246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01748,910,172 - 48,923,361 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001317190 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317191 (Get FASTA)   NCBI Sequence Viewer  
  NP_003195 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257467 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257468 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257469 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257472 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172242 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172243 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172246 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA20466 (Get FASTA)   NCBI Sequence Viewer  
  AAH10623 (Get FASTA)   NCBI Sequence Viewer  
  AAI31770 (Get FASTA)   NCBI Sequence Viewer  
  BAC03440 (Get FASTA)   NCBI Sequence Viewer  
  BAG57756 (Get FASTA)   NCBI Sequence Viewer  
  BAG63703 (Get FASTA)   NCBI Sequence Viewer  
  CAA54555 (Get FASTA)   NCBI Sequence Viewer  
  EAW94762 (Get FASTA)   NCBI Sequence Viewer  
  EAW94763 (Get FASTA)   NCBI Sequence Viewer  
  EAW94764 (Get FASTA)   NCBI Sequence Viewer  
  EAW94765 (Get FASTA)   NCBI Sequence Viewer  
  EAW94766 (Get FASTA)   NCBI Sequence Viewer  
  EAW94767 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350072
  ENSP00000350072.5
  ENSP00000354855
  ENSP00000354855.3
  ENSP00000355190
  ENSP00000355190.3
  ENSP00000445811.1
  ENSP00000461960.1
  ENSP00000461971.1
  ENSP00000462003.1
  ENSP00000462444.1
  ENSP00000462610.1
  ENSP00000462971.1
  ENSP00000463291.1
  ENSP00000463657.1
  ENSP00000463744.1
  ENSP00000463836.1
  ENSP00000463960.1
  ENSP00000464018.1
  ENSP00000464203.1
  ENSP00000464446.1
GenBank Protein Q14494 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003195   ⟸   NM_003204
- Peptide Label: isoform 1
- UniProtKB: Q12877 (UniProtKB/Swiss-Prot),   D3DTU5 (UniProtKB/Swiss-Prot),   D3DTU3 (UniProtKB/Swiss-Prot),   Q96FN6 (UniProtKB/Swiss-Prot),   Q14494 (UniProtKB/Swiss-Prot),   Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257467   ⟸   XM_005257410
- Peptide Label: isoform X1
- UniProtKB: Q12877 (UniProtKB/Swiss-Prot),   D3DTU5 (UniProtKB/Swiss-Prot),   D3DTU3 (UniProtKB/Swiss-Prot),   Q96FN6 (UniProtKB/Swiss-Prot),   Q14494 (UniProtKB/Swiss-Prot),   Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257469   ⟸   XM_005257412
- Peptide Label: isoform X3
- UniProtKB: Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257468   ⟸   XM_005257411
- Peptide Label: isoform X2
- UniProtKB: J9JIE5 (UniProtKB/TrEMBL),   Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257472   ⟸   XM_005257415
- Peptide Label: isoform X4
- UniProtKB: Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317191   ⟸   NM_001330262
- Peptide Label: isoform 3
- UniProtKB: Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317190   ⟸   NM_001330261
- Peptide Label: isoform 2
- UniProtKB: J9JIE5 (UniProtKB/TrEMBL),   Q8NF22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000464203   ⟸   ENST00000580050
RefSeq Acc Id: ENSP00000463744   ⟸   ENST00000580037
RefSeq Acc Id: ENSP00000462253   ⟸   ENST00000581441
RefSeq Acc Id: ENSP00000461971   ⟸   ENST00000581319
RefSeq Acc Id: ENSP00000464446   ⟸   ENST00000582155
RefSeq Acc Id: ENSP00000464018   ⟸   ENST00000583210
RefSeq Acc Id: ENSP00000463291   ⟸   ENST00000583378
RefSeq Acc Id: ENSP00000462971   ⟸   ENST00000584634
RefSeq Acc Id: ENSP00000463657   ⟸   ENST00000584137
RefSeq Acc Id: ENSP00000461960   ⟸   ENST00000585291
RefSeq Acc Id: ENSP00000463960   ⟸   ENST00000585062
RefSeq Acc Id: ENSP00000355190   ⟸   ENST00000361665
RefSeq Acc Id: ENSP00000354855   ⟸   ENST00000362042
RefSeq Acc Id: ENSP00000445811   ⟸   ENST00000536222
RefSeq Acc Id: ENSP00000463836   ⟸   ENST00000577431
RefSeq Acc Id: ENSP00000462610   ⟸   ENST00000577411
RefSeq Acc Id: ENSP00000462003   ⟸   ENST00000579889
RefSeq Acc Id: ENSP00000462444   ⟸   ENST00000579537
RefSeq Acc Id: ENSP00000350072   ⟸   ENST00000357480
RefSeq Acc Id: XP_047292104   ⟸   XM_047436148
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172246   ⟸   XM_054316271
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172242   ⟸   XM_054316267
- Peptide Label: isoform X1
- UniProtKB: Q14494 (UniProtKB/Swiss-Prot),   Q12877 (UniProtKB/Swiss-Prot),   D3DTU5 (UniProtKB/Swiss-Prot),   D3DTU3 (UniProtKB/Swiss-Prot),   Q96FN6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054172244   ⟸   XM_054316269
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172243   ⟸   XM_054316268
- Peptide Label: isoform X2
- UniProtKB: J9JIE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172245   ⟸   XM_054316270
- Peptide Label: isoform X4
Protein Domains
bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14494-F1-model_v2 AlphaFold Q14494 1-772 view protein structure

Promoters
RGD ID:6794156
Promoter ID:HG_KWN:26477
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_003204,   UC002INA.2,   UC002INB.2,   UC002INC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361743,480,101 - 43,481,127 (+)MPROMDB
RGD ID:6811276
Promoter ID:HG_ACW:35079
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NFE2L1.GAPR07,   NFE2L1.JAPR07,   NFE2L1.KAPR07,   NFE2L1.LAPR07,   NFE2L1.NAPR07,   NFE2L1.VCAPR07,   NFE2L1.VDAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361743,487,079 - 43,487,579 (+)MPROMDB
RGD ID:6811274
Promoter ID:HG_ACW:35081
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NFE2L1.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361743,487,991 - 43,488,491 (+)MPROMDB
RGD ID:7235453
Promoter ID:EPDNEW_H23472
Type:initiation region
Name:NFE2L1_1
Description:nuclear factor, erythroid 2 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23473  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,359 - 48,048,419EPDNEW
RGD ID:7235455
Promoter ID:EPDNEW_H23473
Type:initiation region
Name:NFE2L1_2
Description:nuclear factor, erythroid 2 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23472  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381748,048,784 - 48,048,844EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7781 AgrOrtholog
COSMIC NFE2L1 COSMIC
Ensembl Genes ENSG00000082641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357480 ENTREZGENE
  ENST00000357480.9 UniProtKB/Swiss-Prot
  ENST00000361665 ENTREZGENE
  ENST00000361665.7 UniProtKB/TrEMBL
  ENST00000362042 ENTREZGENE
  ENST00000362042.8 UniProtKB/Swiss-Prot
  ENST00000536222.5 UniProtKB/TrEMBL
  ENST00000577411.5 UniProtKB/TrEMBL
  ENST00000577431.1 UniProtKB/TrEMBL
  ENST00000579537.5 UniProtKB/TrEMBL
  ENST00000579889.1 UniProtKB/TrEMBL
  ENST00000580037.1 UniProtKB/TrEMBL
  ENST00000580050.1 UniProtKB/TrEMBL
  ENST00000581319.1 UniProtKB/TrEMBL
  ENST00000582155.5 UniProtKB/TrEMBL
  ENST00000583210.5 UniProtKB/TrEMBL
  ENST00000583378.5 UniProtKB/TrEMBL
  ENST00000584137.5 UniProtKB/TrEMBL
  ENST00000584634.5 UniProtKB/TrEMBL
  ENST00000585062.1 UniProtKB/TrEMBL
  ENST00000585291.5 UniProtKB/Swiss-Prot
Gene3D-CATH Transcription factor, Skn-1-like, DNA-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000082641 GTEx
HGNC ID HGNC:7781 ENTREZGENE
Human Proteome Map NFE2L1 Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NFE2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4779 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4779 ENTREZGENE
OMIM 163260 OMIM
PANTHER NUCLEAR FACTOR ERYTHROID 2-RELATED FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24411:SF31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31587 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BZIP_BASIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRLZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JLG9_HUMAN UniProtKB/TrEMBL
  A3KMG6_HUMAN UniProtKB/TrEMBL
  B4DYE1_HUMAN UniProtKB/TrEMBL
  D3DTU3 ENTREZGENE
  D3DTU5 ENTREZGENE
  F5H1B7_HUMAN UniProtKB/TrEMBL
  J3KRF3_HUMAN UniProtKB/TrEMBL
  J3KSE0_HUMAN UniProtKB/TrEMBL
  J3KSR3_HUMAN UniProtKB/TrEMBL
  J3KTG6_HUMAN UniProtKB/TrEMBL
  J3QKY3_HUMAN UniProtKB/TrEMBL
  J3QLQ1_HUMAN UniProtKB/TrEMBL
  J3QQH8_HUMAN UniProtKB/TrEMBL
  J3QQQ1_HUMAN UniProtKB/TrEMBL
  J3QQY8_HUMAN UniProtKB/TrEMBL
  J3QR31_HUMAN UniProtKB/TrEMBL
  J3QRG7_HUMAN UniProtKB/TrEMBL
  J9JIE5 ENTREZGENE, UniProtKB/TrEMBL
  NF2L1_HUMAN UniProtKB/Swiss-Prot
  Q12877 ENTREZGENE
  Q14494 ENTREZGENE
  Q8NF22 ENTREZGENE, UniProtKB/TrEMBL
  Q96FN6 ENTREZGENE
UniProt Secondary D3DTU3 UniProtKB/Swiss-Prot
  D3DTU5 UniProtKB/Swiss-Prot
  Q12877 UniProtKB/Swiss-Prot
  Q96FN6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-10-04 NFE2L1  NFE2 like bZIP transcription factor 1  NFE2L1  nuclear factor, erythroid 2 like 1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 NFE2L1  nuclear factor, erythroid 2 like 1  NFE2L1  nuclear factor, erythroid 2-like 1  Symbol and/or name change 5135510 APPROVED
2013-09-03 NFE2L1  nuclear factor, erythroid 2-like 1  NFE2L1  nuclear factor (erythroid-derived 2)-like 1  Symbol and/or name change 5135510 APPROVED