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2024-04-20 12:18:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001145413 2725 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2),
transcript variant 3, mRNA.
ACCESSION NM_001145413
VERSION NM_001145413.2 GI:372620348
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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 2725)
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
DC314553.1, AK304555.1, BC011558.1, CV575212.1 and AW471118.1.
On Jan 19, 2012 this sequence version replaced gi:224028258.
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 (3) represents use of an alternate
promoter and 5' UTR, uses a downstream start codon, and uses an
alternate in-frame splice site in the 3' coding region, compared to
variant 1. The resulting isoform (3) has a shorter N-terminus and
is missing an internal segment, compared to 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 :: AK304555.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-317 DC314553.1 1-317
318-1981 AK304555.1 1-1664
1982-2716 BC011558.1 1674-2408
2717-2719 CV575212.1 250-252
2720-2725 AW471118.1 1-6 c
FEATURES Location/Qualifiers
source 1..2725
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q31"
gene 1..2725
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="nuclear factor (erythroid-derived 2)-like 2"
/db_xref="GeneID:4780"
/db_xref="HGNC:7782"
/db_xref="MIM:600492"
exon 1..487
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 170
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:17551500"
variation 256
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="c"
/replace="g"
/db_xref="dbSNP:17522805"
misc_feature 455..457
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="upstream in-frame stop codon"
exon 488..754
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
CDS 491..2239
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="isoform 3 is encoded by transcript variant 3;
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 3"
/protein_id="NP_001138885.1"
/db_xref="GI:224028259"
/db_xref="CCDS:CCDS46458.1"
/db_xref="GeneID:4780"
/db_xref="HGNC:7782"
/db_xref="MIM:600492"
/translation="
MDLIDILWRQDIDLGVSREVFDFSQRRKEYELEKQKKLEKERQEQLQKEQEKAFFAQLQLDEETGEFLPIQPAQHIQSETSGSANYSQVAHIPKSDALYFDDCMQLLAQTFPFVDDNESLVPDIPGHIESPVFIATNQAQSPETSVAQVAPVDLDGMQQDIEQVWEELLSIPELQCLNIENDKLVETTMVPSPEAKLTEVDNYHFYSSIPSMEKEVGNCSPHFLNAFEDSFSSILSTEDPNQLTVNSLNSDATVNTDFGDEFYSAFIAEPSISNSMPSPATLSHSLSELLNGPIDVSDLSLCKAFNQNHPESTAEFNDSDSGISLNTSPSVASPEHSVESSSYGDTLLGLSDSEVEELDSAPGSVKQNGPKTPVHSSGDMVQPLSPSQGQSTHVHDAQCENTPEKELPVSPGHRKTPFTKDKHSSRLEAHLTRDELRAKALHIPFPVEKIINLPVVDFNEMMSKEQFNEAQLALIRDIRRRGKNKVAAQNCRKRKLENIVELEQDLDHLKDEKEKLLKEKGENDKSLHLLKKQLSTLYLEVFSMLRDEDGKPYSPSEYSLQQTRDGNVFLVPKSKKPDVKKN
"
misc_feature 1913..>1987
/gene="NFE2L2"
/gene_synonym="NRF2"
/note="basic region leucin zipper; Region: BRLZ;
smart00338"
/db_xref="CDD:197664"
variation 570
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35248500"
variation 656
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1135118"
variation 737
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:5031039"
exon 755..844
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
exon 845..1015
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 950
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:35577826"
STS 966..1806
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="Nfe2l2"
/db_xref="UniSTS:507087"
STS 968..1214
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S1709E"
/db_xref="UniSTS:150738"
exon 1016..2721
/gene="NFE2L2"
/gene_synonym="NRF2"
/inference="alignment:Splign:1.39.8"
variation 1223
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:34154613"
variation 1453
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35007548"
STS 1605..1737
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="RH68866"
/db_xref="UniSTS:59884"
STS 1810..1953
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="DYS419"
/db_xref="UniSTS:26129"
variation 1971
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057044"
STS 2439..2598
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S1921"
/db_xref="UniSTS:153662"
STS 2445..2582
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S2577"
/db_xref="UniSTS:82249"
STS 2463..2601
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="A003A39"
/db_xref="UniSTS:1648"
STS 2538..2687
/gene="NFE2L2"
/gene_synonym="NRF2"
/standard_name="D2S2715"
/db_xref="UniSTS:8854"
variation 2590
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1057092"
variation 2650
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:34012004"
variation 2674
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1057106"
variation 2676
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="g"
/replace="t"
/db_xref="dbSNP:34176791"
variation 2707
/gene="NFE2L2"
/gene_synonym="NRF2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35911553"
ORIGIN
aagcccagccccgggacgagggaggagcgccttaagtgcccagcgggctcagaagccccgacgtgtggcggctgagccgggccccgcgcactttctcggccggggaggggttcgggctcgggcacccggagttggcccctcgtaacgccgcgggaaagtgcgggcgagggcagtggactctgaggccggagtcggcggcacccggggcttctagttcggacgcggtgccccctggtggcgctcaccgcgcgcgtggccttggcttccgtgacagcgctcggttggccgtcacagcagccctcggttggccctttcctgctttatagcgtgcaaacctcgccgcgccagggccaagggacaggttggagctgttgatctgttgcgcaattgctattttccccagagcggctttgtctttggatttagcgtttcagaattgcaattccaaaatgtgtaagacgggatattctcttctgtgctgtcaagggacatggatttgattgacatactttggaggcaagatatagatcttggagtaagtcgagaagtatttgacttcagtcagcgacggaaagagtatgagctggaaaaacagaaaaaacttgaaaaggaaagacaagaacaactccaaaaggagcaagagaaagcctttttcgctcagttacaactagatgaagagacaggtgaatttctcccaattcagccagcccagcacatccagtcagaaaccagtggatctgccaactactcccaggttgcccacattcccaaatcagatgctttgtactttgatgactgcatgcagcttttggcgcagacattcccgtttgtagatgacaatgagtcacttgttcctgatattcccggtcacatcgagagcccagtcttcattgctactaatcaggctcagtcacctgaaacttctgttgctcaggtagcccctgttgatttagacggtatgcaacaggacattgagcaagtttgggaggagctattatccattcctgagttacagtgtcttaatattgaaaatgacaagctggttgagactaccatggttccaagtccagaagccaaactgacagaagttgacaattatcatttttactcatctataccctcaatggaaaaagaagtaggtaactgtagtccacattttcttaatgcttttgaggattccttcagcagcatcctctccacagaagaccccaaccagttgacagtgaactcattaaattcagatgccacagtcaacacagattttggtgatgaattttattctgctttcatagctgagcccagtatcagcaacagcatgccctcacctgctactttaagccattcactctctgaacttctaaatgggcccattgatgtttctgatctatcactttgcaaagctttcaaccaaaaccaccctgaaagcacagcagaattcaatgattctgactccggcatttcactaaacacaagtcccagtgtggcatcaccagaacactcagtggaatcttccagctatggagacacactacttggcctcagtgattctgaagtggaagagctagatagtgcccctggaagtgtcaaacagaatggtcctaaaacaccagtacattcttctggggatatggtacaacccttgtcaccatctcaggggcagagcactcacgtgcatgatgcccaatgtgagaacacaccagagaaagaattgcctgtaagtcctggtcatcggaaaaccccattcacaaaagacaaacattcaagccgcttggaggctcatctcacaagagatgaacttagggcaaaagctctccatatcccattccctgtagaaaaaatcattaacctccctgttgttgacttcaacgaaatgatgtccaaagagcagttcaatgaagctcaacttgcattaattcgggatatacgtaggaggggtaagaataaagtggctgctcagaattgcagaaaaagaaaactggaaaatatagtagaactagagcaagatttagatcatttgaaagatgaaaaagaaaaattgctcaaagaaaaaggagaaaatgacaaaagccttcacctactgaaaaaacaactcagcaccttatatctcgaagttttcagcatgctacgtgatgaagatggaaaaccttattctcctagtgaatactccctgcagcaaacaagagatggcaatgttttccttgttcccaaaagtaagaagccagatgttaagaaaaactagatttaggaggatttgaccttttctgagctagtttttttgtactattatactaaaagctcctactgtgatgtgaaatgctcatactttataagtaattctatgcaaaatcatagccaaaactagtatagaaaataatacgaaactttaaaaagcattggagtgtcagtatgttgaatcagtagtttcactttaactgtaaacaatttcttaggacaccatttgggctagtttctgtgtaagtgtaaatactacaaaaacttatttatactgttcttatgtcatttgttatattcatagatttatatgatgatatgacatctggctaaaaagaaattattgcaaaactaaccactatgtacttttttataaatactgtatggacaaaaaatggcattttttatattaaattgtttagctctggcaaaaaaaaaaaattttaagagctggtactaataaaggattattatgactgttaaattattaaaa
//
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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