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 //