LOCUS HUMPS1MRNA 3056 bp mRNA linear HUM 03-AUG-1996
DEFINITION Homo sapiens (clone cc44) senilin 1 (PS1; S182) mRNA, complete cds.
ACCESSION L76517
VERSION L76517.1
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 3056)
AUTHORS Sherrington,R., Rogaev,E.I., Liang,Y., Rogaeva,E.A., Levesque,G.,
Ikeda,M., Chi,H., Lin,C., Li,G., Holman,K. et al.
TITLE Cloning of a gene bearing missense mutations in early-onset
familial Alzheimer's disease
JOURNAL Nature 375 (6534), 754-760 (1995)
PUBMED 7596406
REFERENCE 2 (bases 1 to 3056)
AUTHORS Rogaev,E.I., Sherrington,R., Rogaeva,E.I., Levesque,G., Liang,Y.,
Ikeda,M., Tsuda,T., Rogaeva,E., Chi,H., Holman,K., Rommens,J.M. and
St George-Hyslop,P.H.
TITLE Genomic structure, promoter sequence, and alternative splicing of
the presenilin-1 gene associated with early onset Alzheimer's
Disease
JOURNAL Unpublished
COMMENT Original source text: Homo sapiens (clone: cc44) (tissue library:
J.Rommens) adult colon tumor cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..3056
/db_xref="H-InvDB:HIT000193979"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="14q24.3"
/clone="cc44"
/cell_line="CaCo2"
/cell_type="epithelial cell"
/tissue_type="colon tumor"
/dev_stage="adult"
/germline
/tissue_lib="J.Rommens"
gene 1..3056
/gene="PS1"
CDS 554..1945
/gene="PS1"
/function="unknown"
/note="Note alternate 5' start exon, and lacks Val26,
Arg27, Ser28, and Gln29 in clone cc33 due to alternative
splicing of exon 4.; putative"
/citation=[2]
/codon_start=1
/product="presenilin 1"
/protein_id="AAB46370.1"
/translation="MTELPAPLSYFQNAQMSEDNHLSNTNDNRERQEHNDRRSLGHPE
PLSNGRPQGNSRQVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFY
TRKDGQLIYTPFTEDTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHA
WLIISSLLLLFFFSFIYLGEVFKTYNVAVDYITVALLIWNLGVVGMISIHWKGPLRLQ
QAYLIMISALMALVFIKYLPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNE
TLFPALIYSSTMVWLVNMAEGDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSE
EWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKA
SATASGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQ
PFMDQLAFHQFYI"
polyA_site 3056
/gene="PS1"
BASE COUNT 762 a 688 c 740 g 866 t
ORIGIN
1 gaattcggca cgagggaaat gctgtttgct cgaagacgtc tcagggcgca ggtgccttgg
61 gccgggatta gtagccgtct gaactggagt ggagtaggag aaagaggaag cgtcttgggc
121 tgggtctgct tgagcaactg gtgaaactcc gcgcctcacg ccccgggtgt gtccttgtcc
181 aggggcgacg agcattctgg gcgaagtccg caccctcttg ttcgaggcgg aagacggggt
241 ctgatctttc tccttggtcg ggctgtctcg aggcatgcat gtccagtgac tcttgtgttt
301 gctgctgctt ccctctcaga ttcttctcac cgttgtggtc agctctgctt taggcatatt
361 aatccatagt ggaggctggg atgggtgaga gaattgaggt gacttttcca taattcagac
421 ctaatctggg agcctgcaag tgacaacagc ctttgcggtc cttagacagc ttggcctgga
481 ggagaacaca tgaaagaaag aacctcaaga ggctttgttt tctgtgaaac agtatttcta
541 tacagttgct ccaatgacag agttacctgc accgttgtcc tacttccaga atgcacagat
601 gtctgaggac aaccacctga gcaatactaa tgacaataga gaacggcagg agcacaacga
661 cagacggagc cttggccacc ctgagccatt atctaatgga cgaccccagg gtaactcccg
721 gcaggtggtg gagcaagatg aggaagaaga tgaggagctg acattgaaat atggcgccaa
781 gcatgtgatc atgctctttg tccctgtgac tctctgcatg gtggtggtcg tggctaccat
841 taagtcagtc agcttttata cccggaagga tgggcagcta atctataccc cattcacaga
901 agataccgag actgtgggcc agagagccct gcactcaatt ctgaatgctg ccatcatgat
961 cagtgtcatt gttgtcatga ctatcctcct ggtggttctg tataaataca ggtgctataa
1021 ggtcatccat gcctggctta ttatatcatc tctattgttg ctgttctttt tttcattcat
1081 ttacttgggg gaagtgttta aaacctataa cgttgctgtg gactacatta ctgttgcact
1141 cctgatctgg aatttgggtg tggtgggaat gatttccatt cactggaaag gtccacttcg
1201 actccagcag gcatatctca ttatgattag tgccctcatg gccctggtgt ttatcaagta
1261 cctccctgaa tggactgcgt ggctcatctt ggctgtgatt tcagtatatg atttagtggc
1321 tgttttgtgt ccgaaaggtc cacttcgtat gctggttgaa acagctcagg agagaaatga
1381 aacgcttttt ccagctctca tttactcctc aacaatggtg tggttggtga atatggcaga
1441 aggagacccg gaagctcaaa ggagagtatc caaaaattcc aagtataatg cagaaagcac
1501 agaaagggag tcacaagaca ctgttgcaga gaatgatgat ggcgggttca gtgaggaatg
1561 ggaagcccag agggacagtc atctagggcc tcatcgctct acacctgagt cacgagctgc
1621 tgtccaggaa ctttccagca gtatcctcgc tggtgaagac ccagaggaaa ggggagtaaa
1681 acttggattg ggagatttca ttttctacag tgttctggtt ggtaaagcct cagcaacagc
1741 cagtggagac tggaacacaa ccatagcctg tttcgtagcc atattaattg gtttgtgcct
1801 tacattatta ctccttgcca ttttcaagaa agcattgcca gctcttccaa tctccatcac
1861 ctttgggctt gttttctact ttgccacaga ttatcttgta cagcctttta tggaccaatt
1921 agcattccat caattttata tctagcatat ttgcggttag aatcccatgg atgtttcttc
1981 tttgactata accaaatctg gggaggacaa aggtgatttt cctgtgtcca catctaacaa
2041 agtcaagatt cccggctgga cttttgcagc ttccttccaa gtcttcctga ccaccttgca
2101 ctattggact ttggaaggag gtgcctatag aaaacgattt tgaacatact tcatcgcagt
2161 ggactgtgtc ctcggtgcag aaactaccag atttgaggga cgaggtcaag gagatatgat
2221 aggcccggaa gttgctgtgc cccatcagca gcttgacgcg tggtcacagg acgatttcac
2281 tgacactgcg aactctcagg actaccggtt accaagaggt taggtgaagt ggtttaaacc
2341 aaacggaact cttcatctta aactacacgt tgaaaatcaa cccaataatt ctgtattaac
2401 tgaattctga acttttcagg aggtactgtg aggaagagca ggcaccagca gcagaatggg
2461 gaatggagag gtgggcaggg gttccagctt ccctttgatt ttttgctgca gactcatcct
2521 ttttaaatga gacttgtttt cccctctctt tgagtcaagt caaatatgta gatgcctttg
2581 gcaattcttc ttctcaagca ctgacactca ttaccgtctg tgattgccat ttcttcccaa
2641 ggccagtctg aacctgaggt tgctttatcc taaaagtttt aacctcaggt tccaaattca
2701 gtaaattttg gaaacagtac agctatttct catcaattct ctatcatgtt gaagtcaaat
2761 ttggattttc caccaaattc tgaatttgta gacatacttg tacgctcact tgccccagat
2821 gcctcctctg tcctcattct tctctcccac acaagcagtc tttttctaca gccagtaagg
2881 cagctctgtc gtggtagcag atggtcccac ttattctagg gtcttactct ttgtatgatg
2941 aaaagaatgt gttatgaatc ggtgctgtca gccctgctgt cagaccttct tccacagcaa
3001 atgagatgta tgcccaaagc ggtagaatta aagaagagta aaatggctgt tgaagc
//