LOCUS BC011729 2802 bp mRNA linear HUM 04-AUG-2008
DEFINITION Homo sapiens presenilin 1, mRNA (cDNA clone MGC:19554
IMAGE:4423098), complete cds.
ACCESSION BC011729
VERSION BC011729.2
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 2802)
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 2802)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (30-JUL-2001) 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 20, 2003 this sequence version replaced BC011729.1.
Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: ATCC/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: 27 Row: p Column: 3
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 21536454.
FEATURES Location/Qualifiers
source 1..2802
/db_xref="H-InvDB:HIT000035407"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:19554 IMAGE:4423098"
/tissue_type="Skin, melanotic melanoma."
/clone_lib="NIH_MGC_20"
/lab_host="DH10B-R"
/note="Vector: pOTB7"
gene 1..2802
/gene="PSEN1"
/gene_synonym="FAD"
/gene_synonym="PS1"
/gene_synonym="S182"
/db_xref="GeneID:5663"
/db_xref="HGNC:HGNC:9508"
/db_xref="MIM:104311"
CDS 266..1657
/gene="PSEN1"
/gene_synonym="FAD"
/gene_synonym="PS1"
/gene_synonym="S182"
/codon_start=1
/product="PSEN1 protein"
/protein_id="AAH11729.1"
/db_xref="GeneID:5663"
/db_xref="HGNC:HGNC:9508"
/db_xref="MIM:104311"
/translation="MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPE
PLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFY
TRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA
WLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQ
QAYLIMISALMALVFIKYLPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNE
TLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSE
EWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKA
SATASGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQ
PFMDQLAFHQFYI"
BASE COUNT 747 a 624 c 657 g 774 t
ORIGIN
1 ggttctcggg cggggcctgg gacaggcagc tccggggtcc gcggtttcac atcggaaaca
61 aaacagcggc tggtctggaa ggaacctgag ctacgagccg cggcggcagc ggggcggcgg
121 ggaagcgtat acctaatctg ggagcctgca agtgacaaca gcctttgcgg tccttagaca
181 gcttggcctg gaggagaaca catgaaagaa agaacctcaa gaggctttgt tttctgtgaa
241 acagtatttc tatacagttg ctccaatgac agagttacct gcaccgttgt cctacttcca
301 gaatgcacag atgtctgagg acaaccacct gagcaatact aatgacaata gagaacggca
361 ggagcacaac gacagacgga gccttggcca ccctgagcca ttatctaatg gacgacccca
421 gggtaactcc cggcaggtgg tggagcaaga tgaggaagaa gatgaggagc tgacattgaa
481 atatggcgcc aagcatgtga tcatgctctt tgtccctgtg actctctgca tggtggtggt
541 cgtggctacc attaagtcag tcagctttta tacccggaag gatgggcagc taatctatac
601 cccattcaca gaagataccg agactgtggg ccagagagcc ctgcactcaa ttctgaatgc
661 tgccatcatg atcagtgtca ttgttgtcat gactatcctc ctggtggttc tgtataaata
721 caggtgctat aaggtcatcc atgcctggct tattatatca tctctattgt tgctgttctt
781 tttttcattc atttacttgg gggaagtgtt taaaacctat aacgttgctg tggactacat
841 tactgttgca ctcctgatct ggaattttgg tgtggtggga atgatttcca ttcactggaa
901 aggtccactt cgactccagc aggcatatct cattatgatt agtgccctca tggccctggt
961 gtttatcaag tacctccctg aatggactgc gtggctcatc ttggctgtga tttcagtata
1021 tgatttagtg gctgttttgt gtccgaaagg tccacttcgt atgctggttg aaacagctca
1081 ggagagaaat gaaacgcttt ttccagctct catttactcc tcaacaatgg tgtggttggt
1141 gaatatggca gaaggagacc cggaagctca aaggagagta tccaaaaatt ccaagtataa
1201 tgcagaaagc acagaaaggg agtcacaaga cactgttgca gagaatgatg atggcgggtt
1261 cagtgaggaa tgggaagccc agagggacag tcatctaggg cctcatcgct ctacacctga
1321 gtcacgagct gctgtccagg aactttccag cagtatcctc gctggtgaag acccagagga
1381 aaggggagta aaacttggat tgggagattt cattttctac agtgttctgg ttggtaaagc
1441 ctcagcaaca gccagtggag actggaacac aaccatagcc tgtttcgtag ccatattaat
1501 tggtttgtgc cttacattat tactccttgc cattttcaag aaagcattgc cagctcttcc
1561 aatctccatc acctttgggc ttgttttcta ctttgccaca gattatcttg tacagccttt
1621 tatggaccaa ttagcattcc atcaatttta tatctagcat atttgcggtt agaatcccat
1681 ggatgtttct tctttgacta taacaaaatc tggggaggac aaaggtgatt ttcctgtgtc
1741 cacatctaac aaagtcaaga ttcccggctg gacttttgca gcttccttcc aagtcttcct
1801 gaccaccttg cactattgga ctttggaagg aggtgcctat agaaaacgat tttgaacata
1861 cttcatcgca gtggactgtg tccctcggtg cagaaactac cagatttgag ggacgaggtc
1921 aaggagatat gataggcccg gaagttgctg tgccccatca gcagcttgac gcgtggtcac
1981 aggacgattt cactgacact gcgaactctc aggactaccg ttaccaagag gttaggtgaa
2041 gtggtttaaa ccaaacggaa ctcttcatct taaactacac gttgaaaatc aacccaataa
2101 ttctgtatta actgaattct gaacttttca ggaggtactg tgaggaagag caggcaccag
2161 cagcagaatg gggaatggag aggtgggcag gggttccagc ttccctttga ttttttgctg
2221 cagactcatc ctttttaaat gagacttgtt ttcccctctc tttgagtcaa gtcaaatatg
2281 tagattgcct ttggcaattc ttcttctcaa gcactgacac tcattaccgt ctgtgattgc
2341 catttcttcc caaggccagt ctgaacctga ggttgcttta tcctaaaagt tttaacctca
2401 ggttccaaat tcagtaaatt ttggaaacag tacagctatt tctcatcaat tctctatcat
2461 gttgaagtca aatttggatt ttccaccaaa ttctgaattt gtagacatac ttgtacgctc
2521 acttgcccca gatgcctcct ctgtcctcat tcttctctcc cacacaagca gtctttttct
2581 acagccagta aggcagctct gtcgtggtag cagatggtcc cattattcta gggtcttact
2641 ctttgtatga tgaaaagaat gtgttatgaa tcggtgctgt cagccctgct gtcagacctt
2701 cttccacagc aaatgagatg tatgcccaaa gacggtagaa ttaaagaaga gtaaaatggc
2761 tgttgaagca aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
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