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
//