LOCUS BC000659 1816 bp mRNA linear HUM 15-JUL-2006 DEFINITION Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A), mRNA (cDNA clone MGC:1004 IMAGE:3347423), complete cds. ACCESSION BC000659 VERSION BC000659.2 KEYWORDS MGC. 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 1816) AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A. CONSRTM Mammalian Gene Collection Program Team TITLE Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002) PUBMED 12477932 REFERENCE 2 (bases 1 to 1816) CONSRTM NIH MGC Project TITLE Direct Submission JOURNAL Submitted (15-NOV-2000) National Institutes of Health, Mammalian Gene Collection (MGC), Bethesda, MD 20892-2590, USA REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov COMMENT On Aug 19, 2003 this sequence version replaced BC000659.1. Contact: MGC help desk Email: cgapbs-r@mail.nih.gov Tissue Procurement: DCTD/DTP cDNA Library Preparation: Rubin Laboratory cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL) DNA Sequencing by: National Institutes of Health Intramural Sequencing Center (NISC), Gaithersburg, Maryland; Web site: http://www.nisc.nih.gov/ Contact: nisc_mgc@nhgri.nih.gov Akhter,N., Ayele,K., Beckstrom-Sternberg,S.M., Benjamin,B., Blakesley,R.W., Bouffard,G.G., Breen,K., Brinkley,C., Brooks,S., Dietrich,N.L., Granite,S., Guan,X., Gupta,J., Haghighi,P., Hansen,N., Ho,S.-L., Karlins,E., Kwong,P., Laric,P., Legaspi,R., Maduro,Q.L., Masiello,C., Maskeri,B., Mastrian,S.D.,McCloskey,J.C., McDowell,J., Pearson,R., Stantripop,S., Thomas,P.J., Touchman,J.W., Tsurgeon,C., Vogt,J.L., Walker,M.A., Wetherby,K.D., Wiggins,L., Young,A., Zhang,L.-H. and Green,E.D. Clone distribution: MGC clone distribution information can be found through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov Series: IRAL Plate: 5 Row: d Column: 4 This clone was selected for full length sequencing because it passed the following selection criteria: matched mRNA gi: 34222322. FEATURES Location/Qualifiers source 1..1816 /db_xref="H-InvDB:HIT000029814" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /clone="MGC:1004 IMAGE:3347423" /tissue_type="Kidney, renal cell adenocarcinoma" /clone_lib="NIH_MGC_14" /lab_host="DH10B-R" /note="Vector: pOTB7" gene 1..1816 /gene="AAAS" /gene_synonym="AAA" /gene_synonym="AAASb" /gene_synonym="ADRACALA" /gene_synonym="ADRACALIN" /gene_synonym="DKFZp586G1624" /gene_synonym="GL003" /db_xref="GeneID:8086" /db_xref="HGNC:HGNC:13666" /db_xref="MIM:605378" CDS 126..1766 /gene="AAAS" /gene_synonym="AAA" /gene_synonym="AAASb" /gene_synonym="ADRACALA" /gene_synonym="ADRACALIN" /gene_synonym="DKFZp586G1624" /gene_synonym="GL003" /codon_start=1 /product="achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)" /protein_id="AAH00659.1" /db_xref="GeneID:8086" /db_xref="HGNC:HGNC:13666" /db_xref="MIM:605378" /translation="MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWIN LPVLQLTKDPLKTPGRLDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEE VFEWVKTASGWALALCRWASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWH PHTNKFAVALLDDSVRVYNASSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCIL IWTLDPTSLSTRPSSGCAQVLSHPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVST ETCVPLPWFRGGGVTNLLWSPDGSKILATTPSAVFRVWEAQMWTCERWPTLSGRCQTG CWSPDGSRLLFTVLGEPLIYSLSFPERCGEGKGCVGGAKSATIVADLSETTIQTPDGE ERLGGEAHSMVWDPSGERLAVLMKGKPRVQDGKPVILLFRTRNSPVFELLPCGIIQGE PGAQPQLITFHPSFNKGALLSVGWSTGRIAHIPLYFVNAQFPRFSPVLGRAQEPPAGG GGSIHDLPLFTETSPTSAPWDPLPGPPPVLPHSPHSHL" BASE COUNT 360 a 542 c 489 g 425 t ORIGIN 1 cgccgtttgt cccttgcggt acccgtccgc atacgaatct agcccgggaa ccgagttgcg 61 ggagtgcggt ctgtgccgtt ccggccagga gtttgccgac tgcagacgtc ctgcgaaccg 121 gcaagatgtg ctctctgggg ttgttccctc ctccaccgcc tcggggtcaa gtcaccctat 181 atgagcacaa taacgagctg gtgacgggca gtagctatga gagcccgccc cccgacttcc 241 ggggccagtg gatcaatctt cctgtcctac aactgacaaa ggatccccta aagacccctg 301 gaaggctgga ccatggcaca agaactgcct tcatccatca ccgggagcaa gtgtggaaga 361 gatgcatcaa catttggcgt gatgtgggcc tttttggggt gctaaatgaa attgcaaact 421 cagaagaaga ggtgtttgag tgggtgaaga cggcatccgg ctgggccctg gcactctgtc 481 gatgggcctc ttccctccat gggtccctgt tcccccatct gtctctcagg agcgaagatc 541 tgatcgctga atttgcccaa gtcacaaatt ggtccagctg ctgcttgcgt gtctttgcat 601 ggcaccccca caccaacaag tttgcagtgg ccctgctaga tgactcagtc cgtgtgtata 661 atgccagcag caccatagtc ccctccctga agcaccggct gcagcgaaat gtggcgtctc 721 tggcctggaa gccccttagt gcctctgtct tggctgtggc ctgccagagc tgcattctta 781 tctggaccct ggaccctacc tccttgtcta cccgaccctc ttctggctgt gcccaagtgc 841 tgtctcaccc tgggcataca cctgttacca gcttggcctg ggcccccagt ggggggcggc 901 tgctctcagc ttcacccgtg gatgctgcta tccgggtatg ggatgtctca acagagacct 961 gtgtccccct tccctggttt cgaggaggtg gggtgaccaa cctgctctgg tccccagacg 1021 gcagcaaaat cctggctacc actccttcag ctgtctttcg agtctgggag gcccagatgt 1081 ggacttgtga gaggtggcct actctatcag ggcgctgtca gactggctgc tggagcccag 1141 atggcagccg actgctgttc actgtattgg gagagccact gatttactcc ctgtcttttc 1201 cagaacgttg tggtgaggga aaggggtgcg ttggaggtgc aaagtcagca acgattgtgg 1261 cagatctgtc tgagacaaca atacagacac cagatggtga ggagaggctt gggggagagg 1321 ctcactccat ggtctgggac cccagtgggg aacgtctggc tgtgcttatg aaaggaaagc 1381 caagggtaca ggatggtaaa ccagtcatcc tcctttttcg cactcgaaac agccctgtgt 1441 ttgagctcct tccctgtggc attatccagg gggagccagg agcccagccc cagctcatca 1501 ctttccatcc ttccttcaac aaaggggccc tgctcagtgt gggctggtcc acaggccgaa 1561 ttgcccacat cccgctgtac tttgtcaatg cccagtttcc acgttttagc ccagtgcttg 1621 ggcgggccca ggaaccccct gctgggggtg gaggctctat tcatgacctg cccctcttta 1681 ctgagacatc cccaacctct gccccttggg accctctccc agggccacca cctgttctgc 1741 cccactcccc acattcccac ctctaagaat aaataagttt tccttttgtt ttccactcaa 1801 aaaaaaaaaa aaaaaa //