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 //