LOCUS AB006682 2027 bp mRNA linear HUM 13-DEC-1997 DEFINITION Homo sapiens APECED mRNA for AIRE-1, complete cds. ACCESSION AB006682 VERSION AB006682.1 KEYWORDS . 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 2027) AUTHORS Shimizu,N. TITLE Direct Submission JOURNAL Submitted (16-AUG-1997) to the DDBJ/EMBL/GenBank databases. Contact:Nobuyoshi Shimizu Keio University School of Medicine, Department of Molecular Biology; 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan REFERENCE 2 AUTHORS Nagamine,K., Peterson,P., Scott,H.S., Kudoh,J., Minoshima,S., Heino,M., Krohn,K.J.E., 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, 393-398 (1997) COMMENT FEATURES Location/Qualifiers source 1..2027 /chromosome="21" /db_xref="H-InvDB:HIT000058084" /db_xref="taxon:9606" /dev_stage="3-yr-old" /isolate="Caucasian" /map="21q22.3" /mol_type="mRNA" /organism="Homo sapiens" /sex="male" /tissue_type="thymus" CDS 128..1765 /gene="APECED" /note="autoimmune regulator-1" /product="AIRE-1" /protein_id="BAA23988.1" /translation="MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQ ETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPK DVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKA KPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESG GSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQ GSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGT WRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTL VYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCA AAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHE PALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS" regulatory 2013..2018 /regulatory_class="polyA_signal_sequence" BASE COUNT 357 a 716 c 644 g 310 t ORIGIN 1 agacgggcgg gcgcacagcc ggcgcggagg ccccacagcc ccgccgggac ccgaggccaa 61 gcgaggggct gccagtgtcc cgggacccac cgcgtccgcc ccagccccgg gtccccgcgc 121 ccaccccatg gcgacggacg cggcgctacg ccggcttctg aggctgcacc gcacggagat 181 cgcggtggcc gtggacagcg ccttcccact gctgcacgcg ctggctgacc acgacgtggt 241 ccccgaggac aagtttcagg agacgcttca tctgaaggaa aaggagggct gcccccaggc 301 cttccacgcc ctcctgtcct ggctgctgac ccaggactcc acagccatcc tggacttctg 361 gagggtgctg ttcaaggact acaacctgga gcgctatggc cggctgcagc ccatcctgga 421 cagcttcccc aaagatgtgg acctcagcca gccccggaag gggaggaagc ccccggccgt 481 ccccaaggct ttggtaccgc cacccagact ccccaccaag aggaaggcct cagaagaggc 541 tcgagctgcc gcgccagcag ccctgactcc aaggggcacc gccagcccag gctctcaact 601 gaaggccaag ccccccaaga agccggagag cagcgcagag cagcagcgcc ttccactcgg 661 gaacgggatt cagaccatgt cagcttcagt ccagagagct gtggccatgt cctccgggga 721 cgtcccggga gcccgagggg ccgtggaggg gatcctcatc cagcaggtgt ttgagtcagg 781 cggctccaag aagtgcatcc aggttggcgg ggagttctac actcccagca agttcgaaga 841 ctccggcagt gggaagaaca aggcccgcag cagcagtggc ccgaagcctc tggttcgagc 901 caagggagcc cagggcgctg cccccggtgg aggtgaggct aggctgggcc agcagggcag 961 cgttcccgcc cctctggccc tccccagtga cccccagctc caccagaaga atgaggacga 1021 gtgtgccgtg tgtcgggacg gcggggagct catctgctgt gacggctgcc ctcgggcctt 1081 ccacctggcc tgcctgtccc ctccgctccg ggagatcccc agtgggacct ggaggtgctc 1141 cagctgcctg caggcaacag tccaggaggt gcagccccgg gcagaggagc cccggcccca 1201 ggagccaccc gtggagaccc cgctcccccc ggggcttagg tcggcgggag aggaggtaag 1261 aggtccacct ggggaacccc tagccggcat ggacacgact cttgtctaca agcacctgcc 1321 ggctccgcct tctgcagccc cgctgccagg gctggactcc tcggccctgc accccctact 1381 gtgtgtgggt cctgagggtc agcagaacct ggctcctggt gcgcgttgcg gggtgtgcgg 1441 agatggtacg gacgtgctgc ggtgtactca ctgcgccgct gccttccact ggcgctgcca 1501 cttcccagcc ggcacctccc ggcccgggac gggcctgcgc tgcagatcct gctcaggaga 1561 cgtgacccca gcccctgtgg agggggtgct ggcccccagc cccgcccgcc tggcccctgg 1621 gcctgccaag gatgacactg ccagtcacga gcccgctctg cacagggatg acctggagtc 1681 ccttctgagc gagcacacct tcgatggcat cctgcagtgg gccatccaga gcatggcccg 1741 tccggcggcc cccttcccct cctgacccca gatggccggg acatgcagct ctgatgagag 1801 agtgctgaga aggacacctc cttcctcagt cctggaagcc ggccggctgg gatcaagaag 1861 gggacagcgc cacctcttgt cagtgctcgg ctgtaaacag ctctgtgttt ctggggacac 1921 cagccatcat gtgcctggaa attaaaccct gccccacttc tctactctgg aagtccccgg 1981 gagcctctcc ttgcctggtg acctactaaa aatataaaaa ttagctg //