LOCUS       NM_001136023            1656 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens nuclear factor, erythroid 2 (NFE2), transcript variant
            2, mRNA.
ACCESSION   NM_001136023
VERSION     NM_001136023.3
KEYWORDS    RefSeq; MANE Select.
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 1656)
  AUTHORS   Anekpuritanang,T., Klairmont,M.M., Gradowski,J., Hagiwara,K.,
            Bailey,N.G., Chandra,P., Liu,Y., Mulder,H.L., Easton,J., Zhang,J.,
            Martin,M.G., Owczarczyk,A.B., Dunlap,J.B., Fan,G., Press,R.D. and
            Raess,P.W.
  TITLE     In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation
            prevalence is lower than previously reported
  JOURNAL   Blood Adv 5 (23), 5057-5059 (2021)
   PUBMED   34559205
  REMARK    GeneRIF: In a multi-institutional cohort of myeloid sarcomas, NFE2
            mutation prevalence is lower than previously reported.
REFERENCE   2  (bases 1 to 1656)
  AUTHORS   Marcault,C., Zhao,L.P., Maslah,N., Verger,E., Daltro de
            Oliveira,R., Soret-Dulphy,J., Cazaux,M., Gauthier,N., Roux,B.,
            Clappier,E., Parquet,N., Dosquet,C., Rea,D., Zini,J.M.,
            Vainchenker,W., Raffoux,E., Giraudier,S., Kiladjian,J.J.,
            Cassinat,B. and Benajiba,L.
  TITLE     Impact of NFE2 mutations on AML transformation and overall survival
            in patients with myeloproliferative neoplasms
  JOURNAL   Blood 138 (21), 2142-2148 (2021)
   PUBMED   33945619
  REMARK    GeneRIF: Impact of NFE2 mutations on AML transformation and overall
            survival in patients with myeloproliferative neoplasms.
REFERENCE   3  (bases 1 to 1656)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1656)
  AUTHORS   D'Orazi,G., Garufi,A. and Cirone,M.
  TITLE     Nuclear factor erythroid 2 (NF-E2) p45-related factor 2 interferes
            with homeodomain-interacting protein kinase 2/p53 activity to
            impair solid tumors chemosensitivity
  JOURNAL   IUBMB Life 72 (8), 1634-1639 (2020)
   PUBMED   32593231
  REMARK    GeneRIF: Nuclear factor erythroid 2 (NF-E2) p45-related factor 2
            interferes with homeodomain-interacting protein kinase 2/p53
            activity to impair solid tumors chemosensitivity.
REFERENCE   5  (bases 1 to 1656)
  AUTHORS   Siegwart,L.C., Schwemmers,S., Wehrle,J., Koellerer,C., Seeger,T.,
            Grunder,A. and Pahl,H.L.
  TITLE     The transcription factor NFE2 enhances expression of the
            hematopoietic master regulators SCL/TAL1 and GATA2
  JOURNAL   Exp Hematol 87, 42-47 (2020)
   PUBMED   32593672
  REMARK    GeneRIF: The transcription factor NFE2 enhances expression of the
            hematopoietic master regulators SCL/TAL1 and GATA2.
REFERENCE   6  (bases 1 to 1656)
  AUTHORS   Shivdasani,R.A., Rosenblatt,M.F., Zucker-Franklin,D., Jackson,C.W.,
            Hunt,P., Saris,C.J. and Orkin,S.H.
  TITLE     Transcription factor NF-E2 is required for platelet formation
            independent of the actions of thrombopoietin/MGDF in megakaryocyte
            development
  JOURNAL   Cell 81 (5), 695-704 (1995)
   PUBMED   7774011
REFERENCE   7  (bases 1 to 1656)
  AUTHORS   Pischedda,C., Cocco,S., Melis,A., Marini,M.G., Kan,Y.W., Cao,A. and
            Moi,P.
  TITLE     Isolation of a differentially regulated splicing isoform of human
            NF-E2
  JOURNAL   Proc Natl Acad Sci U S A 92 (8), 3511-3515 (1995)
   PUBMED   7724591
REFERENCE   8  (bases 1 to 1656)
  AUTHORS   Igarashi,K., Kataoka,K., Itoh,K., Hayashi,N., Nishizawa,M. and
            Yamamoto,M.
  TITLE     Regulation of transcription by dimerization of erythroid factor
            NF-E2 p45 with small Maf proteins
  JOURNAL   Nature 367 (6463), 568-572 (1994)
   PUBMED   8107826
REFERENCE   9  (bases 1 to 1656)
  AUTHORS   Chan,J.Y., Han,X.L. and Kan,Y.W.
  TITLE     Isolation of cDNA encoding the human NF-E2 protein
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 11366-11370 (1993)
   PUBMED   8248255
REFERENCE   10 (bases 1 to 1656)
  AUTHORS   Strauss,E.C., Andrews,N.C., Higgs,D.R. and Orkin,S.H.
  TITLE     In vivo footprinting of the human alpha-globin locus upstream
            regulatory element by guanine and adenine ligation-mediated
            polymerase chain reaction
  JOURNAL   Mol Cell Biol 12 (5), 2135-2142 (1992)
   PUBMED   1569944
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BE243330.1 and BC005044.1.
            
            On Nov 24, 2018 this sequence version replaced NM_001136023.2.
            
            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 :: SRR5189661.104564.1,
                                           SRR5189661.64803.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA2142670
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000435572.7/ ENSP00000397185.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BE243330.1         24-31
            9-1656              BC005044.1         1-1648
FEATURES             Location/Qualifiers
     source          1..1656
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..1656
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /note="nuclear factor, erythroid 2"
                     /db_xref="GeneID:4778"
                     /db_xref="HGNC:HGNC:7780"
                     /db_xref="MIM:601490"
     exon            1..215
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /inference="alignment:Splign:2.1.0"
     exon            216..385
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1393
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /note="isoform 1 is encoded by transcript variant 2;
                     transcription factor NF-E2 45 kDa subunit; leucine zipper
                     protein NF-E2; nuclear factor, erythroid-derived 2 45 kDa
                     subunit; nuclear factor (erythroid-derived 2), 45kDa"
                     /codon_start=1
                     /product="transcription factor NF-E2 45 kDa subunit
                     isoform 1"
                     /protein_id="NP_001129495.1"
                     /db_xref="CCDS:CCDS8876.1"
                     /db_xref="GeneID:4778"
                     /db_xref="HGNC:HGNC:7780"
                     /db_xref="MIM:601490"
                     /translation="MSPCPPQQSRNRVIQLSTSELGEMELTWQEIMSITELQGLNAPS
                     EPSFEPQAPAPYLGPPPPTTYCPCSIHPDSGFPLPPPPYELPASTSHVPDPPYSYGNM
                     AIPVSKPLSLSGLLSEPLQDPLALLDIGLPAGPPKPQEDPESDSGLSLNYSDAESLEL
                     EGTEAGRRRSEYVEMYPVEYPYSLMPNSLAHSNYTLPAAETPLALEPSSGPVRAKPTA
                     RGEAGSRDERRALAMKIPFPTDKIVNLPVDDFNELLARYPLTESQLALVRDIRRRGKN
                     KVAAQNCRKRKLETIVQLERELERLTNERERLLRARGEADRTLEVMRQQLTELYRDIF
                     QHLRDESGNSYSPEEYALQQAADGTIFLVPRGTKMEATD"
     exon            386..1656
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1637..1642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /note="hexamer: TATAAA"
     polyA_site      1656
                     /gene="NFE2"
                     /gene_synonym="NF-E2; p45"
                     /note="major polyA site"
ORIGIN      
        1 agacgctggt gcgcctgctt ggggctcctg tgctcagctc agcctgagct tccacactca
       61 gcgctcagca atggcccggg ggcggggcgc ggtcctcgca gattctcaaa ggtagccggg
      121 atcctcgtcc agcagtgtca gctcaggctc agcctcccca gagacaacac cgggagcctc
      181 atctctctcc tcaccctgct gtgactccac cacaggtttc tagagccatc tgggctttcc
      241 gggaacctgg accagactct ggcccagtag gatgtccccg tgtcctcccc agcagagcag
      301 gaacagggtg atacagctgt ccacttcaga gctaggagag atggaactga cttggcagga
      361 gatcatgtcc atcaccgagc tgcagggtct gaatgctcca agtgagccat catttgagcc
      421 ccaagcccca gctccatacc ttggacctcc accacccaca acttactgcc cctgctcaat
      481 ccacccagat tctggcttcc cacttcctcc accaccttat gagctcccag catccacatc
      541 ccatgtccca gatcccccat actcctatgg caacatggcc ataccagtct ccaagccact
      601 gagcctctca ggcctgctca gtgagccgct ccaagacccc ttagccctcc tggacattgg
      661 gctgccagca gggccaccta agccccaaga agacccagaa tccgactcag gattatccct
      721 caactatagc gatgctgaat ctcttgagct ggaggggaca gaggctggtc ggcggcgcag
      781 cgaatatgta gagatgtacc cagtggagta cccctactca ctcatgccca actccttggc
      841 ccactccaac tataccttgc cagctgctga gacccccttg gccttagagc cctcctcagg
      901 ccctgtgcgg gctaagccca ctgcacgggg ggaggcaggg agtcgggatg aacgtcgggc
      961 cttggccatg aagattcctt ttcctacgga caagattgtc aacttgccgg tagatgactt
     1021 taatgagcta ttggcaaggt acccgctgac agagagccag ctagcgctag tccgggacat
     1081 ccgacgacgg ggcaaaaaca aggtggcagc ccagaactgc cgcaagagga agctggaaac
     1141 cattgtgcag ctggagcggg agctggagcg gctgaccaat gaacgggagc ggcttctcag
     1201 ggcccgcggg gaggcagacc ggaccctgga ggtcatgcgc caacagctga cagagctgta
     1261 ccgtgacatt ttccagcacc ttcgggatga atcaggcaac agctactctc ctgaagagta
     1321 cgcgctgcaa caggctgccg atgggaccat cttccttgtg ccccggggga ccaagatgga
     1381 ggccacagac tgagctggcc cagaggggtg gaactgctga tgggatttcc ttcattccct
     1441 tctgataaag gtactcccca accctgagtc ccagaaggag ctgagttctc tagaccagaa
     1501 gaggatgaca atggcaacaa gtgtttggaa gttccaaggt gtgttcaaag aggcttgcct
     1561 tgagggaggg ctggaatctg tcttccctga ctcggctcct caggtcttta gcctccacct
     1621 tgtctaagct ttggtctata aagtgcgcta cagaaa
//
