LOCUS       Z97990                  2245 bp    mRNA    linear   HUM 07-OCT-2008
DEFINITION  Homo Sapiens mRNA for AIRE protein.
ACCESSION   Z97990
VERSION     Z97990.1
KEYWORDS    Aire protein.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1
  AUTHORS   Aaltonen J., Bjrses P., Perheentupa J., Horelli-Kuitunen N.,
            Paloti A., Peltonen L., Lee Y.S., Francis F., Hennig S., Thiel C.,
            Lehrach H., Yaspo M.L.
  TITLE     An autoimmune disease, APECED, caused by mutations in a novel gene
            featuring two PHD-type zinc finger domains
  JOURNAL   Nat Genet 17, 399-403(1997).
   PUBMED   9398840
REFERENCE   2  (bases 1 to 2245)
  AUTHORS   Yaspo M.L.
  JOURNAL   Submitted (21-JUL-1997) to the INSDC. Max Planck Institut fur
            Molekulare Genetik, Ihnestrasse 73, Berlin D-14195, Germany.
  REMARK    revised by submitter 24-SEP-1997
FEATURES             Location/Qualifiers
     source          1..2245
                     /db_xref="H-InvDB:HIT000328328"
                     /organism="Homo sapiens"
                     /chromosome="21"
                     /mol_type="mRNA"
                     /tissue_type="thymus"
                     /db_xref="taxon:9606"
     source          1..1810
                     /organism="Homo sapiens"
                     /chromosome="21"
                     /mol_type="mRNA"
                     /clone_lib="lambda GT11 from Clontech (cat# hl5010B)"
                     /clone="B1-1"
                     /tissue_type="thymus"
                     /db_xref="taxon:9606"
     source          1811..2180
                     /organism="Homo sapiens"
                     /chromosome="21"
                     /mol_type="mRNA"
                     /clone_lib="lambda GT11 from Clontech (cat# hl5010B)"
                     /clone="D1-1"
                     /tissue_type="thymus"
                     /db_xref="taxon:9606"
     CDS             121..1758
                     /product="AIRE protein"
                     /db_xref="GOA:O43918"
                     /db_xref="H-InvDB:HIT000328328.14"
                     /db_xref="HGNC:HGNC:360"
                     /db_xref="InterPro:IPR000770"
                     /db_xref="InterPro:IPR001965"
                     /db_xref="InterPro:IPR004865"
                     /db_xref="InterPro:IPR008087"
                     /db_xref="InterPro:IPR010919"
                     /db_xref="InterPro:IPR011011"
                     /db_xref="InterPro:IPR013083"
                     /db_xref="InterPro:IPR019786"
                     /db_xref="InterPro:IPR019787"
                     /db_xref="PDB:1XWH"
                     /db_xref="PDB:2KE1"
                     /db_xref="PDB:2KFT"
                     /db_xref="PDB:2LRI"
                     /db_xref="UniProtKB/Swiss-Prot:O43918"
                     /protein_id="CAB10790.1"
                     /translation="MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQ
                     ETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPK
                     DVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKA
                     KPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESG
                     GSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQ
                     GSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGT
                     WRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTL
                     VYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCA
                     AAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHE
                     PALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS"
BASE COUNT          419 a          765 c          697 g          364 t
ORIGIN      
        1 cgggcgcaca gccggcgcgg aggccccaca gccccgccgg gacccgaggc caagcgaggg
       61 gctgccagtg tcccgggacc caccgcgtcc gccccagccc cgggtccccg cgcccacccc
      121 atggcgacgg acgcggcgct acgccggctt ctgaggctgc accgcacgga gatcgcggtg
      181 gccgtggaca gcgccttccc actgctgcac gcgctggctg accacgacgt ggtccccgag
      241 gacaagtttc aggagacgct tcatctgaag gaaaaggagg gctgccccca ggccttccac
      301 gccctcctgt cctggctgct gacccaggac tccacagcca tcctggactt ctggagggtg
      361 ctgttcaagg actacaacct ggagcgctat ggccggctgc agcccatcct ggacagcttc
      421 cccaaagatg tggacctcag ccagccccgg aaggggagga agcccccggc cgtccccaag
      481 gctttggtac cgccacccag actccccacc aagaggaagg cctcagaaga ggctcgagct
      541 gccgcgccag cagccctgac tccaaggggc accgccagcc caggctctca actgaaggcc
      601 aagcccccca agaagccgga gagcagcgca gagcagcagc gccttccact cgggaacggg
      661 attcagacca tgtcagcttc agtccagaga gctgtggcca tgtcctccgg ggacgtcccg
      721 ggagcccgag gggccgtgga ggggatcctc atccagcagg tgtttgagtc aggcggctcc
      781 aagaagtgca tccaggttgg tggggagttc tacactccca gcaagttcga agactccggc
      841 agtgggaaga acaaggcccg cagcagcagt ggcccgaagc ctctggttcg agccaaggga
      901 gcccagggcg ctgcccccgg tggaggtgag gctaggctgg gccagcaggg cagcgttccc
      961 gcccctctgg ccctccccag tgacccccag ctccaccaga agaatgagga cgagtgtgcc
     1021 gtgtgtcggg acggcgggga gctcatctgc tgtgacggct gccctcgggc cttccacctg
     1081 gcctgcctgt cccctccgct ccgggagatc cccagtggga cctggaggtg ctccagctgc
     1141 ctgcaggcaa cagtccagga ggtgcagccc cgggcagagg agccccggcc ccaggagcca
     1201 cccgtggaga ccccgctccc cccggggctt aggtcggcgg gagaggaggt aagaggtcca
     1261 cctggggaac ccctagccgg catggacacg actcttgtct acaagcacct gccggctccg
     1321 ccttctgcag ccccgctgcc agggctggac tcctcggccc tgcaccccct actgtgtgtg
     1381 ggtcctgagg gtcagcagaa cctggctcct ggtgcgcgtt gcggggtgtg cggagatggt
     1441 acggacgtgc tgcggtgtac tcactgcgcc gctgccttcc actggcgctg ccacttccca
     1501 gccggcacct cccggcccgg gacgggcctg cgctgcagat cctgctcagg agacgtgacc
     1561 ccagcccctg tggagggggt gctggccccc agccccgccc gcctggcccc tgggcctgcc
     1621 aaggatgaca ctgccagtca cgagcccgct ctgcacaggg atgacctgga gtcccttctg
     1681 agcgagcaca ccttcgatgg catcctgcag tgggccatcc agagcatggc ccgtccggcg
     1741 gcccccttcc cctcctgacc ccagatggcc gggacatgca gctctgatga gagagtgctg
     1801 agaaggacac ctccttcctc agtcctggaa gccggccggc tgggatcaag aaggggacag
     1861 cgccacctct tgtcagtgct cggctgtaaa cagctctgtg tttctgggga caccagccat
     1921 catgtgcctg gaaattaaac cctgccccac ttctctactc tggaagtccc cgggagcctc
     1981 tccttgcctg gtgacctact aaaaatataa aaattagctg ggtgtggtgg tgggtgcctg
     2041 taatcccagc tacatgggag cctgaggcat gagaatcact tgaactcggg aggtggaggt
     2101 tgcagtgagc tgagattgcg ccactgcact ccagtctggt cggcaagagt gagactccgt
     2161 ctcaaaaaca aaacaaaaaa accacataac ataaatttat catctcgacc acttttcagt
     2221 tcagtggcat tcacatctca tgtaa
//