LOCUS       NM_001106379            1891 bp    mRNA    linear   ROD 15-NOV-2024
DEFINITION  Rattus norvegicus autoimmune regulator (Aire), transcript variant
            2, mRNA.
ACCESSION   NM_001106379 XM_001071453 XM_228067
VERSION     NM_001106379.1
KEYWORDS    RefSeq.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1891)
  AUTHORS   Ossart,J., Moreau,A., Autrusseau,E., Menoret,S., Martin,J.C.,
            Besnard,M., Ouisse,L.H., Tesson,L., Flippe,L., Kisand,K.,
            Peterson,P., Hubert,F.X., Anegon,I., Josien,R. and Guillonneau,C.
  TITLE     Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a
            Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal
            Dystrophy-like Autoimmune Disease
  JOURNAL   J Immunol 201 (3), 874-887 (2018)
   PUBMED   29959280
REFERENCE   2  (bases 1 to 1891)
  AUTHORS   Zhu,W., Hu,Z., Liao,X., Chen,X., Huang,W., Zhong,Y. and Zeng,Z.
  TITLE     A new mutation site in the AIRE gene causes autoimmune
            polyendocrine syndrome type 1
  JOURNAL   Immunogenetics 69 (10), 643-651 (2017)
   PUBMED   28540407
REFERENCE   3  (bases 1 to 1891)
  AUTHORS   Oftedal,B.E., Hellesen,A., Erichsen,M.M., Bratland,E., Vardi,A.,
            Perheentupa,J., Kemp,E.H., Fiskerstrand,T., Viken,M.K.,
            Weetman,A.P., Fleishman,S.J., Banka,S., Newman,W.G., Sewell,W.A.,
            Sozaeva,L.S., Zayats,T., Haugarvoll,K., Orlova,E.M., Haavik,J.,
            Johansson,S., Knappskog,P.M., Lovas,K., Wolff,A.S., Abramson,J. and
            Husebye,E.S.
  TITLE     Dominant Mutations in the Autoimmune Regulator AIRE Are Associated
            with Common Organ-Specific Autoimmune Diseases
  JOURNAL   Immunity 42 (6), 1185-1196 (2015)
   PUBMED   26084028
REFERENCE   4  (bases 1 to 1891)
  AUTHORS   Gardner,J.M., Metzger,T.C., McMahon,E.J., Au-Yeung,B.B.,
            Krawisz,A.K., Lu,W., Price,J.D., Johannes,K.P., Satpathy,A.T.,
            Murphy,K.M., Tarbell,K.V., Weiss,A. and Anderson,M.S.
  TITLE     Extrathymic Aire-expressing cells are a distinct bone
            marrow-derived population that induce functional inactivation of
            CD4 T cells
  JOURNAL   Immunity 39 (3), 560-572 (2013)
   PUBMED   23993652
REFERENCE   5  (bases 1 to 1891)
  AUTHORS   Aichinger,M., Wu,C., Nedjic,J. and Klein,L.
  TITLE     Macroautophagy substrates are loaded onto MHC class II of medullary
            thymic epithelial cells for central tolerance
  JOURNAL   J Exp Med 210 (2), 287-300 (2013)
   PUBMED   23382543
REFERENCE   6  (bases 1 to 1891)
  AUTHORS   Ramsey,C., Winqvist,O., Puhakka,L., Halonen,M., Moro,A., Kampe,O.,
            Eskelin,P., Pelto-Huikko,M. and Peltonen,L.
  TITLE     Aire deficient mice develop multiple features of APECED phenotype
            and show altered immune response
  JOURNAL   Hum Mol Genet 11 (4), 397-409 (2002)
   PUBMED   11854172
REFERENCE   7  (bases 1 to 1891)
  AUTHORS   Kumar,P.G., Laloraya,M., Wang,C.Y., Ruan,Q.G., Davoodi-Semiromi,A.,
            Kao,K.J. and She,J.X.
  TITLE     The autoimmune regulator (AIRE) is a DNA-binding protein
  JOURNAL   J Biol Chem 276 (44), 41357-41364 (2001)
   PUBMED   11533054
REFERENCE   8  (bases 1 to 1891)
  AUTHORS   Pitkanen,J., Vahamurto,P., Krohn,K. and Peterson,P.
  TITLE     Subcellular localization of the autoimmune regulator protein.
            characterization of nuclear targeting and transcriptional
            activation domain
  JOURNAL   J Biol Chem 276 (22), 19597-19602 (2001)
   PUBMED   11274163
REFERENCE   9  (bases 1 to 1891)
  AUTHORS   Halonen,M., Pelto-Huikko,M., Eskelin,P., Peltonen,L., Ulmanen,I.
            and Kolmer,M.
  TITLE     Subcellular location and expression pattern of autoimmune regulator
            (Aire), the mouse orthologue for human gene defective in autoimmune
            polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
  JOURNAL   J Histochem Cytochem 49 (2), 197-208 (2001)
   PUBMED   11156688
REFERENCE   10 (bases 1 to 1891)
  AUTHORS   Wang,C.Y., Davoodi-Semiromi,A., Huang,W., Connor,E., Shi,J.D. and
            She,J.X.
  TITLE     Characterization of mutations in patients with autoimmune
            polyglandular syndrome type 1 (APS1)
  JOURNAL   Hum Genet 103 (6), 681-685 (1998)
   PUBMED   9921903
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from CH473988.1.
            
            On or before Oct 4, 2007 this sequence version replaced
            XM_228067.4, XM_001071453.1.
            
            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##
            RNAseq introns :: mixed sample support SAMD00132264, SAMD00132271
                              [ECO:0006172]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..1891
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="20"
                     /map="20p12"
     gene            1..1891
                     /gene="Aire"
                     /note="autoimmune regulator"
                     /db_xref="GeneID:294328"
                     /db_xref="RGD:1311139"
     exon            1..193
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..1702
                     /gene="Aire"
                     /note="isoform 2 is encoded by transcript variant 2;
                     autoimmune regulator (autoimmune polyendocrinopathy
                     candidiasis ectodermal dystrophy)"
                     /codon_start=1
                     /product="autoimmune regulator isoform 2"
                     /protein_id="NP_001099849.1"
                     /db_xref="GeneID:294328"
                     /db_xref="RGD:1311139"
                     /translation="MAGGDGMLRRLLRLHRTEIAVAIDSAFPLLHALADHDVVPEDKF
                     QETLRLKEKEGCPQAFHALLSWLLTRDSGAILDFWRVLFKDYNLERYSRLHTILDGFP
                     KDVDLSQPRKGRKPLAGPKASVVPPRPPTKRRALEEPRATPPATLASKSISSPGSHSK
                     AKPPKKPEGNLESQRLPLGNGIQTMAASVQRAVTVSSGDVPGSRGAVEGILIQQVFES
                     GGSKKCIQVGGEFYKPSKFEDPSGNLKNKTRGGSSLKPVIRGKGTQGRDEQKVSQQCG
                     VPPLPPLPNEPQVHQKNEDECAVCHDGGELICCDGCPRAFHLACLSPPLQEIPSGLWR
                     CSCCLQGRIQQNLSQPEESRPLEPSAETPILLGLRSASEKTRVLSRELPAGSDAAVTY
                     ANLLAPPSTAPVLEPSALCPLPSAGAEGQPGPTLSARCGVCGDSTDVLRCAHCAAAFH
                     WRCHFPMAAVRPGTNLRCKSCSAEPTPTPGVPGEAVPTAVRPTPGLAKVGDDSASHDP
                     VLHRDDLESLLNEHSFDGILQWAIQSMSRPLAETPPFSS"
     exon            194..368
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            369..524
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            525..599
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            600..713
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            714..850
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            851..931
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1047
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1147
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1324
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1446
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1447..1552
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..1621
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
     exon            1622..1891
                     /gene="Aire"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gaacgcaagc gcgcgggggg ccagcagggg gcgccgaagc gcagaccctg tctggaggat
       61 ggctggtggg gatgggatgc tgcgccgcct gctgaggctg caccgcaccg agatcgcagt
      121 ggccatagac agcgcctttc cgctgctgca tgctctggcc gaccacgacg tggtccctga
      181 ggacaagttc caggagacac tccggctgaa agagaaggaa ggctgccccc aggccttcca
      241 cgccctgctg tcctggctcc tgactcggga cagtggggcc atcctggatt tctggagggt
      301 tctctttaag gactacaatc tggagcggta cagccgcctg cataccatcc tggacggctt
      361 tccaaaagat gtggacctta gccagcctcg gaaagggagg aagccccttg ctggtcccaa
      421 ggcttcagta gtgccaccca gaccccccac aaagagaaga gccctggaag agcctcgagc
      481 caccccacca gcaactctgg cctcaaagag catctctagc ccaggttccc actcaaaggc
      541 caaaccccct aagaagccag agggcaactt ggagtcacag cgcctcccac tgggaaacgg
      601 aatccagacc atggcagctt ctgtccagag agctgtgact gtgtcctccg gggatgtccc
      661 aggatcccga ggggctgtgg aagggatcct tatccagcaa gtattcgagt caggaggatc
      721 caagaagtgc atccaggttg gaggggagtt ttataaaccc agcaagttcg aagaccccag
      781 tggcaatttg aagaacaaga cccgaggtgg tagcagccta aagccagtga tccgaggaaa
      841 gggaacccag ggtagagatg agcagaaagt gagccagcag tgtggggtcc ctccccttcc
      901 acctcttccc aatgagcccc aagttcacca gaagaacgag gatgaatgcg ctgtgtgcca
      961 tgacggaggc gagctcatct gctgtgacgg ctgtccccgc gccttccacc tggcttgcct
     1021 gtccccacct ctgcaggaga tccccagtgg cctttggaga tgttcgtgct gcctccaggg
     1081 cagaatccag cagaacctgt cccagcctga ggagtccagg cccctggagc catctgcaga
     1141 gaccccgatt ctcctgggac tgaggtcagc ttccgagaaa accagggtcc tgtccaggga
     1201 gctgccagcc ggctcagatg ctgcagtcac atatgcgaac ctgctggccc caccttccac
     1261 agcccctgtt ctggagcctt cagcactctg ccctctaccg agtgctgggg cggaagggca
     1321 gccgggtccg acactgagcg cgcgatgcgg tgtgtgcggc gactccaccg acgtgctgcg
     1381 gtgcgcacac tgtgccgctg cctttcactg gcgctgccac ttcccgatgg ctgctgtccg
     1441 gccagggacc aatctccgct gcaagtcctg ctcggcagaa ccgactccca cgccaggcgt
     1501 gccaggcgag gctgtgccca ccgctgtgcg tcccacacct gggcttgcca aggtagggga
     1561 cgactctgct agtcatgacc ctgttctgca tagggatgac ctggagtccc tcctgaatga
     1621 gcactccttt gacggcatcc tgcagtgggc catccagagc atgtcacgcc cgctggccga
     1681 gacaccaccc ttttcttcct gactccaggc agcatagcac cagcccccac cccaccccat
     1741 cagatgacgc cttatacctg cagcccctcc gttctgagag gactaggcta gttagggcca
     1801 agagctgcag gactcagctg gcagacggcc ctggtctttg tggagatgca aggccactct
     1861 gtgtcttgaa attaaagtca cttctgtgtg c
//
