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2024-04-19 23:27:01, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006164 2859 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2),
transcript variant 1, mRNA.
ACCESSION NM_006164
VERSION NM_006164.4 GI:372620346
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2859)
AUTHORS Kang,S.H., Jung,Y.H., Kim,H.Y., Seo,J.H., Lee,J.Y., Kwon,J.W.,
Kim,B.J., Kim,H.B., Lee,S.Y., Jang,G.C., Song,D.J., Kim,W.K.,
Shim,J.Y., Kim,J.H., Kang,M.J., Yu,H.S., Yu,J. and Hong,S.J.
TITLE Effect of paracetamol use on the modification of the development of
asthma by reactive oxygen species genes
JOURNAL Ann. Allergy Asthma Immunol. 110 (5), 364-369 (2013)
PUBMED 23622008
REMARK GeneRIF: Gene polymorphisms in NAT2, Nrf2, and GSTP1 were found to
be associated with the relationship between paracetamol use and
asthma.
REFERENCE 2 (bases 1 to 2859)
AUTHORS Yu,J., Zhu,X., Qi,X., Che,J. and Cao,B.
TITLE Paeoniflorin protects human EA.hy926 endothelial cells against
gamma-radiation induced oxidative injury by activating the
NF-E2-related factor 2/heme oxygenase-1 pathway
JOURNAL Toxicol. Lett. 218 (3), 224-234 (2013)
PUBMED 23403272
REMARK GeneRIF: Paeoniflorin protected EA.hy926 cells against
radiation-induced injury through the Nrf2/HO-1 pathway.
REFERENCE 3 (bases 1 to 2859)
AUTHORS Ooi,A., Dykema,K., Ansari,A., Petillo,D., Snider,J., Kahnoski,R.,
Anema,J., Craig,D., Carpten,J., Teh,B.T. and Furge,K.A.
TITLE CUL3 and NRF2 mutations confer an NRF2 activation phenotype in a
sporadic form of papillary renal cell carcinoma
JOURNAL Cancer Res. 73 (7), 2044-2051 (2013)
PUBMED 23365135
REMARK GeneRIF: Somatic mutation in NRF2 gene is associated with sporadic
form of papillary renal cell carcinoma.
REFERENCE 4 (bases 1 to 2859)
AUTHORS Drozdzik,A., Kowalczyk,R., Urasinska,E. and Kurzawski,M.
TITLE Expression of nuclear receptors (AhR, PXR, CAR) and transcription
factor (Nrf2) in human parotid gland
JOURNAL Acta Pol Pharm 70 (2), 215-219 (2013)
PUBMED 23614276
REMARK GeneRIF: Report Nrf2 expression in human parotid glands.
REFERENCE 5 (bases 1 to 2859)
AUTHORS Bolati,D., Shimizu,H., Yisireyili,M., Nishijima,F. and Niwa,T.
TITLE Indoxyl sulfate, a uremic toxin, downregulates renal expression of
Nrf2 through activation of NF-kappaB
JOURNAL BMC Nephrol 14, 56 (2013)
PUBMED 23496811
REMARK GeneRIF: renal expression of 8-OHdG compared with control CKD rats.
CONCLUSIONS: Indoxyl sulfate downregulates renal expression of Nrf2
through activation of NF-kappaB, followed by downregulation of HO-1
and NQO1 and increased production of ROS.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 2859)
AUTHORS Itoh,K., Wakabayashi,N., Katoh,Y., Ishii,T., Igarashi,K.,
Engel,J.D. and Yamamoto,M.
TITLE Keap1 represses nuclear activation of antioxidant responsive
elements by Nrf2 through binding to the amino-terminal Neh2 domain
JOURNAL Genes Dev. 13 (1), 76-86 (1999)
PUBMED 9887101
REFERENCE 7 (bases 1 to 2859)
AUTHORS Venugopal,R. and Jaiswal,A.K.
TITLE Nrf2 and Nrf1 in association with Jun proteins regulate antioxidant
response element-mediated expression and coordinated induction of
genes encoding detoxifying enzymes
JOURNAL Oncogene 17 (24), 3145-3156 (1998)
PUBMED 9872330
REFERENCE 8 (bases 1 to 2859)
AUTHORS Toki,T., Itoh,J., Kitazawa,J., Arai,K., Hatakeyama,K., Akasaka,J.,
Igarashi,K., Nomura,N., Yokoyama,M., Yamamoto,M. and Ito,E.
TITLE Human small Maf proteins form heterodimers with CNC family
transcription factors and recognize the NF-E2 motif
JOURNAL Oncogene 14 (16), 1901-1910 (1997)
PUBMED 9150357
REFERENCE 9 (bases 1 to 2859)
AUTHORS Chan,J.Y., Cheung,M.C., Moi,P., Chan,K. and Kan,Y.W.
TITLE Chromosomal localization of the human NF-E2 family of bZIP
transcription factors by fluorescence in situ hybridization
JOURNAL Hum. Genet. 95 (3), 265-269 (1995)
PUBMED 7868116
REFERENCE 10 (bases 1 to 2859)
AUTHORS Moi,P., Chan,K., Asunis,I., Cao,A. and Kan,Y.W.
TITLE Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic
leucine zipper transcriptional activator that binds to the tandem
NF-E2/AP1 repeat of the beta-globin locus control region
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 91 (21), 9926-9930 (1994)
PUBMED 7937919
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA436387.1, BC011558.1, CV575212.1 and AW471118.1.
On Jan 19, 2012 this sequence version replaced gi:166295208.
Summary: This gene encodes a transcription factor which is a member
of a small family of basic leucine zipper (bZIP) proteins. The
encoded transcription factor regulates genes which contain
antioxidant response elements (ARE) in their promoters; many of
these genes encode proteins involved in response to injury and
inflammation which includes the production of free radicals.
Multiple transcript variants encoding different isoforms have been
found for this gene. [provided by RefSeq, Jan 2012].
Transcript Variant: This variant (1) represents the longest
transcript and encodes the longest isoform (1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK314816.1, BC011558.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-442 DA436387.1 1-442
443-2850 BC011558.1 1-2408
2851-2853 CV575212.1 250-252
2854-2859 AW471118.1 1-6 c
FEATURES Location/Qualifiers
source 1..2859
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q31"
gene 1..2859
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="nuclear factor (erythroid-derived 2)-like 2"
/db_xref="GeneID:4780"
/db_xref="HGNC:7782"
/db_xref="HPRD:02732"
/db_xref="MIM:600492"
exon 1..600
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
misc_feature 400..402
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="upstream in-frame stop codon"
CDS 556..2373
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="isoform 1 is encoded by transcript variant 1;
NF-E2-related factor 2; nuclear factor erythroid 2-related
factor 2; nuclear factor erythroid-derived 2-like 2;
HEBP1; NFE2-related factor 2; nuclear factor, erythroid
derived 2, like 2"
/codon_start=1
/product="nuclear factor erythroid 2-related factor 2
isoform 1"
/protein_id="NP_006155.2"
/db_xref="GI:20149576"
/db_xref="CCDS:CCDS42782.1"
/db_xref="GeneID:4780"
/db_xref="HGNC:7782"
/db_xref="HPRD:02732"
/db_xref="MIM:600492"
/translation="
MMDLELPPPGLPSQQDMDLIDILWRQDIDLGVSREVFDFSQRRKEYELEKQKKLEKERQEQLQKEQEKAFFAQLQLDEETGEFLPIQPAQHIQSETSGSANYSQVAHIPKSDALYFDDCMQLLAQTFPFVDDNEVSSATFQSLVPDIPGHIESPVFIATNQAQSPETSVAQVAPVDLDGMQQDIEQVWEELLSIPELQCLNIENDKLVETTMVPSPEAKLTEVDNYHFYSSIPSMEKEVGNCSPHFLNAFEDSFSSILSTEDPNQLTVNSLNSDATVNTDFGDEFYSAFIAEPSISNSMPSPATLSHSLSELLNGPIDVSDLSLCKAFNQNHPESTAEFNDSDSGISLNTSPSVASPEHSVESSSYGDTLLGLSDSEVEELDSAPGSVKQNGPKTPVHSSGDMVQPLSPSQGQSTHVHDAQCENTPEKELPVSPGHRKTPFTKDKHSSRLEAHLTRDELRAKALHIPFPVEKIINLPVVDFNEMMSKEQFNEAQLALIRDIRRRGKNKVAAQNCRKRKLENIVELEQDLDHLKDEKEKLLKEKGENDKSLHLLKKQLSTLYLEVFSMLRDEDGKPYSPSEYSLQQTRDGNVFLVPKSKKPDVKKN
"
misc_feature 673..675
/gene="NFE2L2"
/gene_synonym="NRF2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by PKC; propagated from
UniProtKB/Swiss-Prot (Q16236.3); phosphorylation site"
misc_feature 673..675
/gene="NFE2L2"
/gene_synonym="NRF2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01501"
misc_feature 1198..1200
/gene="NFE2L2"
/gene_synonym="NRF2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q16236.3); phosphorylation site"
misc_feature 2047..>2121
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="basic region leucin zipper; Region: BRLZ;
smart00338"
/db_xref="CDD:197664"
misc_feature 2050..2109
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q16236.3);
Region: Basic motif (By similarity)"
misc_feature 2119..2142
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q16236.3);
Region: Leucine-zipper (By similarity)"
misc_feature 2341..2343
/gene="NFE2L2"
/gene_synonym="NRF2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine, by CREBBP; propagated from
UniProtKB/Swiss-Prot (Q16236.3); acetylation site"
misc_feature 2350..2352
/gene="NFE2L2"
/gene_synonym="NRF2"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine, by CREBBP; propagated from
UniProtKB/Swiss-Prot (Q16236.3); acetylation site"
exon 601..867
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 683
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35248500"
variation 769
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135118"
variation 850
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5031039"
exon 868..957
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
exon 958..1149
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 1084
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:35577826"
STS 1100..1940
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="Nfe2l2"
/db_xref="UniSTS:507087"
STS 1102..1348
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S1709E"
/db_xref="UniSTS:150738"
exon 1150..2855
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 1357
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34154613"
variation 1587
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35007548"
STS 1739..1871
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="RH68866"
/db_xref="UniSTS:59884"
STS 1944..2087
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="DYS419"
/db_xref="UniSTS:26129"
variation 2105
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057044"
STS 2573..2732
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S1921"
/db_xref="UniSTS:153662"
STS 2579..2716
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S2577"
/db_xref="UniSTS:82249"
STS 2597..2735
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="A003A39"
/db_xref="UniSTS:1648"
STS 2672..2821
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S2715"
/db_xref="UniSTS:8854"
variation 2724
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1057092"
variation 2784
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:34012004"
variation 2808
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1057106"
variation 2810
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:34176791"
variation 2841
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35911553"
ORIGIN
aaatcagggaggcgcagctcctacaccaacgcctttccggggctccgggtgtgtttgttccaactgtttaaactgtttcaaagcgtccgaactccagcgaccttcgcaaacaactctttatctcgcgggcgagagcgctgcccttatttgcgggggagggcaaactgaacgccggcaccggggagctaacggagacctcctctaggtcccccgcctgctgggaccccagctggcagtcccttcccgcccccggaccgcgagcttcttgcgtcagccccggcgcgggtgggggattttcggaagctcagcccgcgcggccggcgggggaaggaagggcccggactcttgccccgcccttgtggggcgggaggcggagcggggcaggggcccgccggcgtgtagccgattaccgagtgccggggagcccggaggagccgccgacgcagccgccaccgccgccgccgccgccaccagagccgccctgtccgcgccgcgcctcggcagccggaacagggccgccgtcggggagccccaacacacggtccacagctcatcatgatggacttggagctgccgccgccgggactcccgtcccagcaggacatggatttgattgacatactttggaggcaagatatagatcttggagtaagtcgagaagtatttgacttcagtcagcgacggaaagagtatgagctggaaaaacagaaaaaacttgaaaaggaaagacaagaacaactccaaaaggagcaagagaaagcctttttcgctcagttacaactagatgaagagacaggtgaatttctcccaattcagccagcccagcacatccagtcagaaaccagtggatctgccaactactcccaggttgcccacattcccaaatcagatgctttgtactttgatgactgcatgcagcttttggcgcagacattcccgtttgtagatgacaatgaggtttcttcggctacgtttcagtcacttgttcctgatattcccggtcacatcgagagcccagtcttcattgctactaatcaggctcagtcacctgaaacttctgttgctcaggtagcccctgttgatttagacggtatgcaacaggacattgagcaagtttgggaggagctattatccattcctgagttacagtgtcttaatattgaaaatgacaagctggttgagactaccatggttccaagtccagaagccaaactgacagaagttgacaattatcatttttactcatctataccctcaatggaaaaagaagtaggtaactgtagtccacattttcttaatgcttttgaggattccttcagcagcatcctctccacagaagaccccaaccagttgacagtgaactcattaaattcagatgccacagtcaacacagattttggtgatgaattttattctgctttcatagctgagcccagtatcagcaacagcatgccctcacctgctactttaagccattcactctctgaacttctaaatgggcccattgatgtttctgatctatcactttgcaaagctttcaaccaaaaccaccctgaaagcacagcagaattcaatgattctgactccggcatttcactaaacacaagtcccagtgtggcatcaccagaacactcagtggaatcttccagctatggagacacactacttggcctcagtgattctgaagtggaagagctagatagtgcccctggaagtgtcaaacagaatggtcctaaaacaccagtacattcttctggggatatggtacaacccttgtcaccatctcaggggcagagcactcacgtgcatgatgcccaatgtgagaacacaccagagaaagaattgcctgtaagtcctggtcatcggaaaaccccattcacaaaagacaaacattcaagccgcttggaggctcatctcacaagagatgaacttagggcaaaagctctccatatcccattccctgtagaaaaaatcattaacctccctgttgttgacttcaacgaaatgatgtccaaagagcagttcaatgaagctcaacttgcattaattcgggatatacgtaggaggggtaagaataaagtggctgctcagaattgcagaaaaagaaaactggaaaatatagtagaactagagcaagatttagatcatttgaaagatgaaaaagaaaaattgctcaaagaaaaaggagaaaatgacaaaagccttcacctactgaaaaaacaactcagcaccttatatctcgaagttttcagcatgctacgtgatgaagatggaaaaccttattctcctagtgaatactccctgcagcaaacaagagatggcaatgttttccttgttcccaaaagtaagaagccagatgttaagaaaaactagatttaggaggatttgaccttttctgagctagtttttttgtactattatactaaaagctcctactgtgatgtgaaatgctcatactttataagtaattctatgcaaaatcatagccaaaactagtatagaaaataatacgaaactttaaaaagcattggagtgtcagtatgttgaatcagtagtttcactttaactgtaaacaatttcttaggacaccatttgggctagtttctgtgtaagtgtaaatactacaaaaacttatttatactgttcttatgtcatttgttatattcatagatttatatgatgatatgacatctggctaaaaagaaattattgcaaaactaaccactatgtacttttttataaatactgtatggacaaaaaatggcattttttatattaaattgtttagctctggcaaaaaaaaaaaattttaagagctggtactaataaaggattattatgactgttaaattattaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4780 -> Molecular function: GO:0001102 [RNA polymerase II activating transcription factor binding] evidence: IPI
GeneID:4780 -> Molecular function: GO:0003677 [DNA binding] evidence: IDA
GeneID:4780 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:4780 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IPI
GeneID:4780 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:4780 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:4780 -> Biological process: GO:0010499 [proteasomal ubiquitin-independent protein catabolic process] evidence: IDA
GeneID:4780 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA
GeneID:4780 -> Biological process: GO:0030194 [positive regulation of blood coagulation] evidence: IEA
GeneID:4780 -> Biological process: GO:0030968 [endoplasmic reticulum unfolded protein response] evidence: IEA
GeneID:4780 -> Biological process: GO:0036003 [positive regulation of transcription from RNA polymerase II promoter in response to stress] evidence: IMP
GeneID:4780 -> Biological process: GO:0043161 [proteasomal ubiquitin-dependent protein catabolic process] evidence: IDA
GeneID:4780 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IMP
GeneID:4780 -> Biological process: GO:0045995 [regulation of embryonic development] evidence: IEA
GeneID:4780 -> Biological process: GO:0070301 [cellular response to hydrogen peroxide] evidence: IMP
GeneID:4780 -> Biological process: GO:0071356 [cellular response to tumor necrosis factor] evidence: IMP
GeneID:4780 -> Biological process: GO:0071499 [cellular response to laminar fluid shear stress] evidence: IMP
GeneID:4780 -> Biological process: GO:1902176 [negative regulation of intrinsic apoptotic signaling pathway in response to oxidative stress] evidence: IMP
GeneID:4780 -> Biological process: GO:2000121 [regulation of removal of superoxide radicals] evidence: IEA
GeneID:4780 -> Biological process: GO:2000352 [negative regulation of endothelial cell apoptotic process] evidence: IMP
GeneID:4780 -> Biological process: GO:2000379 [positive regulation of reactive oxygen species metabolic process] evidence: IEA
GeneID:4780 -> Cellular component: GO:0000785 [chromatin] evidence: IEA
GeneID:4780 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4780 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:4780 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
GeneID:4780 -> Cellular component: GO:0005829 [cytosol] evidence: IDA
GeneID:4780 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
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