LOCUS       NP_001099849             547 aa            linear   ROD 15-NOV-2024
DEFINITION  autoimmune regulator isoform 2 [Rattus norvegicus].
ACCESSION   NP_001099849 XP_001071453 XP_228067
VERSION     NP_001099849.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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 (residues 1 to 547)
  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
            XP_228067.4, XP_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..547
                     /organism="Rattus norvegicus"
                     /db_xref="taxon:10116"
                     /chromosome="20"
                     /map="20p12"
     Protein         1..547
                     /product="autoimmune regulator isoform 2"
                     /note="autoimmune regulator (autoimmune polyendocrinopathy
                     candidiasis ectodermal dystrophy)"
                     /calculated_mol_wt=58495
     Region          17..104
                     /region_name="HSR"
                     /note="HSR domain; pfam03172"
                     /db_xref="CDD:460835"
     Region          198..264
                     /region_name="SAND"
                     /note="SAND domain; cl02536"
                     /db_xref="CDD:470606"
     Region          296..338
                     /region_name="PHD1_AIRE"
                     /note="PHD finger 1 found in autoimmune regulator (AIRE);
                     cd15539"
                     /db_xref="CDD:277014"
     Site            order(296,302..308,310,318,328..333)
                     /site_type="other"
                     /note="histone H3 binding site [polypeptide binding]"
                     /db_xref="CDD:277014"
     Region          429..471
                     /region_name="PHD2_AIRE"
                     /note="PHD finger 2 found in autoimmune regulator (AIRE);
                     cd15540"
                     /db_xref="CDD:277015"
     Site            order(429,438..442,446,466)
                     /site_type="other"
                     /note="putative histone H3 binding site [polypeptide
                     binding]"
                     /db_xref="CDD:277015"
     CDS             1..547
                     /gene="Aire"
                     /coded_by="NM_001106379.1:59..1702"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="GeneID:294328"
                     /db_xref="RGD:1311139"
ORIGIN      
        1 maggdgmlrr llrlhrteia vaidsafpll haladhdvvp edkfqetlrl kekegcpqaf
       61 hallswlltr dsgaildfwr vlfkdynler ysrlhtildg fpkdvdlsqp rkgrkplagp
      121 kasvvpprpp tkrraleepr atppatlask sisspgshsk akppkkpegn lesqrlplgn
      181 giqtmaasvq ravtvssgdv pgsrgavegi liqqvfesgg skkciqvgge fykpskfedp
      241 sgnlknktrg gsslkpvirg kgtqgrdeqk vsqqcgvppl pplpnepqvh qknedecavc
      301 hdggeliccd gcprafhlac lspplqeips glwrcscclq griqqnlsqp eesrplepsa
      361 etpillglrs asektrvlsr elpagsdaav tyanllapps tapvlepsal cplpsagaeg
      421 qpgptlsarc gvcgdstdvl rcahcaaafh wrchfpmaav rpgtnlrcks csaeptptpg
      481 vpgeavptav rptpglakvg ddsashdpvl hrddleslln ehsfdgilqw aiqsmsrpla
      541 etppfss
//
