LOCUS       NM_000383               2690 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens autoimmune regulator (AIRE), mRNA.
ACCESSION   NM_000383
VERSION     NM_000383.4
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 2690)
  AUTHORS   Ochoa,S., Hsu,A.P., Oler,A.J., Kumar,D., Chauss,D., van
            Hamburg,J.P., van Laar,G.G., Oikonomou,V., Ganesan,S.,
            Ferre,E.M.N., Schmitt,M.M., DiMaggio,T., Barber,P.,
            Constantine,G.M., Rosen,L.B., Auwaerter,P.G., Gandhi,B.,
            Miller,J.L., Eisenberg,R., Rubinstein,A., Schussler,E., Balliu,E.,
            Shashi,V., Neth,O., Olbrich,P., Le,K.M., Mamia,N., Laakso,S.,
            Nevalainen,P.I., Gronholm,J., Seppanen,M.R.J., Boon,L., Uzel,G.,
            Franco,L.M., Heller,T., Winer,K.K., Ghosh,R., Seifert,B.A.,
            Walkiewicz,M., Notarangelo,L.D., Zhou,Q., Askentijevich,I.,
            Gahl,W., Dalgard,C.L., Perera,L., Afzali,B., Tas,S.W., Holland,S.M.
            and Lionakis,M.S.
  TITLE     A deep intronic splice-altering AIRE variant causes APECED syndrome
            through antisense oligonucleotide-targetable pseudoexon inclusion
  JOURNAL   Sci Transl Med 16 (765), eadk0845 (2024)
   PUBMED   39292801
  REMARK    GeneRIF: A deep intronic splice-altering AIRE variant causes APECED
            syndrome through antisense oligonucleotide-targetable pseudoexon
            inclusion.
REFERENCE   2  (bases 1 to 2690)
  AUTHORS   Kallberg,E., Mehmeti-Ajradini,M., Bjork Gunnarsdottir,F.,
            Goransson,M., Bergenfelz,C., Allaoui Fredriksson,R., Hagerling,C.,
            Johansson,M.E., Welinder,C., Jirstrom,K. and Leandersson,K.
  TITLE     AIRE is expressed in breast cancer TANs and TAMs to regulate the
            extrinsic apoptotic pathway and inflammation
  JOURNAL   J Leukoc Biol 115 (4), 664-678 (2024)
   PUBMED   38060995
  REMARK    GeneRIF: AIRE is expressed in breast cancer TANs and TAMs to
            regulate the extrinsic apoptotic pathway and inflammation.
REFERENCE   3  (bases 1 to 2690)
  AUTHORS   Berczi,B., Nusser,N., Peter,I., Nemeth,B. and Gyongyi,Z.
  TITLE     Association Between AIRE Polymorphisms rs870881(C>T),
            rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian
            Case-control Study
  JOURNAL   In Vivo 38 (2), 774-784 (2024)
   PUBMED   38418155
  REMARK    GeneRIF: Association Between AIRE Polymorphisms rs870881(C>T),
            rs1003854(T>C) and Rheumatoid Arthritis Risk: A Hungarian
            Case-control Study.
REFERENCE   4  (bases 1 to 2690)
  AUTHORS   Cudini,A., Nardella,C., Bellacchio,E., Palma,A., Delfino,D.V.,
            Betterle,C., Cappa,M. and Fierabracci,A.
  TITLE     Analysis of the AIRE Gene Promoter in Patients Affected by
            Autoimmune Polyendocrine Syndromes
  JOURNAL   Int J Mol Sci 25 (5), 2656 (2024)
   PUBMED   38473903
  REMARK    GeneRIF: Analysis of the AIRE Gene Promoter in Patients Affected by
            Autoimmune Polyendocrine Syndromes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2690)
  AUTHORS   Akirav,E.M., Ruddle,N.H. and Herold,K.C.
  TITLE     The role of AIRE in human autoimmune disease
  JOURNAL   Nat Rev Endocrinol 7 (1), 25-33 (2011)
   PUBMED   21102544
  REMARK    GeneRIF: mutations of AIRE lead to the failure to eliminate
            autoreactive T cells, which can lead to clinical autoimmune
            syndromes.
            Review article
REFERENCE   6  (bases 1 to 2690)
  AUTHORS   Scott,H.S., Heino,M., Peterson,P., Mittaz,L., Lalioti,M.D.,
            Betterle,C., Cohen,A., Seri,M., Lerone,M., Romeo,G., Collin,P.,
            Salo,M., Metcalfe,R., Weetman,A., Papasavvas,M.P., Rossier,C.,
            Nagamine,K., Kudoh,J., Shimizu,N., Krohn,K.J. and Antonarakis,S.E.
  TITLE     Common mutations in autoimmune
            polyendocrinopathy-candidiasis-ectodermal dystrophy patients of
            different origins
  JOURNAL   Mol Endocrinol 12 (8), 1112-1119 (1998)
   PUBMED   9717837
REFERENCE   7  (bases 1 to 2690)
  CONSRTM   Finnish-German APECED Consortium
  TITLE     An autoimmune disease, APECED, caused by mutations in a novel gene
            featuring two PHD-type zinc-finger domains
  JOURNAL   Nat Genet 17 (4), 399-403 (1997)
   PUBMED   9398840
REFERENCE   8  (bases 1 to 2690)
  AUTHORS   Nagamine,K., Peterson,P., Scott,H.S., Kudoh,J., Minoshima,S.,
            Heino,M., Krohn,K.J., Lalioti,M.D., Mullis,P.E., Antonarakis,S.E.,
            Kawasaki,K., Asakawa,S., Ito,F. and Shimizu,N.
  TITLE     Positional cloning of the APECED gene
  JOURNAL   Nat Genet 17 (4), 393-398 (1997)
   PUBMED   9398839
REFERENCE   9  (bases 1 to 2690)
  AUTHORS   Aaltonen,J., Horelli-Kuitunen,N., Fan,J.B., Bjorses,P.,
            Perheentupa,J., Myers,R., Palotie,A. and Peltonen,L.
  TITLE     High-resolution physical and transcriptional mapping of the
            autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
            locus on chromosome 21q22.3 by FISH
  JOURNAL   Genome Res 7 (8), 820-829 (1997)
   PUBMED   9267805
REFERENCE   10 (bases 1 to 2690)
  AUTHORS   Aaltonen,J., Bjorses,P., Sandkuijl,L., Perheentupa,J. and
            Peltonen,L.
  TITLE     An autosomal locus causing autoimmune disease: autoimmune
            polyglandular disease type I assigned to chromosome 21
  JOURNAL   Nat Genet 8 (1), 83-87 (1994)
   PUBMED   7987397
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC142608.1, AB006682.1 and
            AP001060.1.
            
            On Nov 23, 2018 this sequence version replaced NM_000383.3.
            
            Summary: This gene encodes a transcriptional regulator that forms
            nuclear bodies and interacts with the transcriptional coactivator
            CREB binding protein. The encoded protein plays an important role
            in immunity by regulating the expression of autoantigens and
            negative selection of autoreactive T-cells in the thymus. Mutations
            in this gene cause the rare autosomal-recessive systemic autoimmune
            disease termed autoimmune polyendocrinopathy with candidiasis and
            ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012].
            
            Sequence Note:.
            
            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 :: Z97990.1, AB006682.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291582.6/ ENSP00000291582.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 BC142608.1         39-42
            5-2031              AB006682.1         1-2027
            2032-2261           BC142608.1         3648-3877
            2262-2690           AP001060.1         38337-38765
FEATURES             Location/Qualifiers
     source          1..2690
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..2690
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="autoimmune regulator"
                     /db_xref="GeneID:326"
                     /db_xref="HGNC:HGNC:360"
                     /db_xref="MIM:607358"
     exon            1..263
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1769
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="autoimmune polyendocrinopathy candidiasis
                     ectodermal dystrophy protein"
                     /codon_start=1
                     /product="autoimmune regulator"
                     /protein_id="NP_000374.1"
                     /db_xref="CCDS:CCDS13706.1"
                     /db_xref="GeneID:326"
                     /db_xref="HGNC:HGNC:360"
                     /db_xref="MIM:607358"
                     /translation="MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQ
                     ETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPK
                     DVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKA
                     KPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESG
                     GSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQ
                     GSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGT
                     WRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTL
                     VYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCA
                     AAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHE
                     PALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS"
     exon            264..438
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            439..594
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            595..669
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            670..783
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..929
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1010
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1126
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1226
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1409
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1531
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1532..1634
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..1697
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..2690
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2665..2670
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="hexamer: AGTAAA"
     polyA_site      2690
                     /gene="AIRE"
                     /gene_synonym="AIRE1; APECED; APS1; APSI; PGA1"
                     /note="major polyA site"
ORIGIN      
        1 ggggagacgg gcgggcgcac agccggcgcg gaggccccac agccccgccg ggacccgagg
       61 ccaagcgagg ggctgccagt gtcccgggac ccaccgcgtc cgccccagcc ccgggtcccc
      121 gcgcccaccc catggcgacg gacgcggcgc tacgccggct tctgaggctg caccgcacgg
      181 agatcgcggt ggccgtggac agcgccttcc cactgctgca cgcgctggct gaccacgacg
      241 tggtccccga ggacaagttt caggagacgc ttcatctgaa ggaaaaggag ggctgccccc
      301 aggccttcca cgccctcctg tcctggctgc tgacccagga ctccacagcc atcctggact
      361 tctggagggt gctgttcaag gactacaacc tggagcgcta tggccggctg cagcccatcc
      421 tggacagctt ccccaaagat gtggacctca gccagccccg gaaggggagg aagcccccgg
      481 ccgtccccaa ggctttggta ccgccaccca gactccccac caagaggaag gcctcagaag
      541 aggctcgagc tgccgcgcca gcagccctga ctccaagggg caccgccagc ccaggctctc
      601 aactgaaggc caagcccccc aagaagccgg agagcagcgc agagcagcag cgccttccac
      661 tcgggaacgg gattcagacc atgtcagctt cagtccagag agctgtggcc atgtcctccg
      721 gggacgtccc gggagcccga ggggccgtgg aggggatcct catccagcag gtgtttgagt
      781 caggcggctc caagaagtgc atccaggttg gcggggagtt ctacactccc agcaagttcg
      841 aagactccgg cagtgggaag aacaaggccc gcagcagcag tggcccgaag cctctggttc
      901 gagccaaggg agcccagggc gctgcccccg gtggaggtga ggctaggctg ggccagcagg
      961 gcagcgttcc cgcccctctg gccctcccca gtgaccccca gctccaccag aagaatgagg
     1021 acgagtgtgc cgtgtgtcgg gacggcgggg agctcatctg ctgtgacggc tgccctcggg
     1081 ccttccacct ggcctgcctg tcccctccgc tccgggagat ccccagtggg acctggaggt
     1141 gctccagctg cctgcaggca acagtccagg aggtgcagcc ccgggcagag gagccccggc
     1201 cccaggagcc acccgtggag accccgctcc ccccggggct taggtcggcg ggagaggagg
     1261 taagaggtcc acctggggaa cccctagccg gcatggacac gactcttgtc tacaagcacc
     1321 tgccggctcc gccttctgca gccccgctgc cagggctgga ctcctcggcc ctgcaccccc
     1381 tactgtgtgt gggtcctgag ggtcagcaga acctggctcc tggtgcgcgt tgcggggtgt
     1441 gcggagatgg tacggacgtg ctgcggtgta ctcactgcgc cgctgccttc cactggcgct
     1501 gccacttccc agccggcacc tcccggcccg ggacgggcct gcgctgcaga tcctgctcag
     1561 gagacgtgac cccagcccct gtggaggggg tgctggcccc cagccccgcc cgcctggccc
     1621 ctgggcctgc caaggatgac actgccagtc acgagcccgc tctgcacagg gatgacctgg
     1681 agtcccttct gagcgagcac accttcgatg gcatcctgca gtgggccatc cagagcatgg
     1741 cccgtccggc ggcccccttc ccctcctgac cccagatggc cgggacatgc agctctgatg
     1801 agagagtgct gagaaggaca cctccttcct cagtcctgga agccggccgg ctgggatcaa
     1861 gaaggggaca gcgccacctc ttgtcagtgc tcggctgtaa acagctctgt gtttctgggg
     1921 acaccagcca tcatgtgcct ggaaattaaa ccctgcccca cttctctact ctggaagtcc
     1981 ccgggagcct ctccttgcct ggtgacctac taaaaatata aaaattagct gggtgtggtg
     2041 gtgggtgcct gtaatcccag ctacatggga gcctgaggca tgagaatcac ttgaactcgg
     2101 gaggtggagg ttgcagtgag ctgagattgc gccactgcac tccagtctgg tcggcaagag
     2161 tgagactccg tctcaaaaac aaaacaaaac aaaaaaacca cataacataa atttatcatc
     2221 tcgaccactt ttcagttcag tggcattcac atctcatgta accattgcca ccaccatctg
     2281 cagagctgtt ccagcttcct gaatggaaac tctggcccca tgaaacactc actccccatt
     2341 cccctcccaa cccctggcac cctccactct actttctgtc tctatgactt ctccagggac
     2401 ctcatggaag tggaatcaca cagtatctgt ccttttgtgt ctgtcttatt ttactcagca
     2461 tggtggcccc aaggttcatc catgttgtag catgtgccga aatctgcttc cttttttaag
     2521 gctgagtaat attccagcac atggatggac tgcattgtgt tcatctatgc tttcctcagc
     2581 agacacctgg gtgcttccac cttttggctg ttgtgagtaa tgctgctatg aatatgtgtg
     2641 tgcaaatatc tgtgtgagtc tttgagtaaa atcgctggat cacatggtaa
//
