LOCUS AF192523 2571 bp mRNA linear HUM 29-DEC-2003
DEFINITION Homo sapiens truncated Niemann-Pick C1-like protein 1 (NPC1L1)
mRNA, complete cds, alternatively spliced.
ACCESSION AF192523
VERSION AF192523.1
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 2571)
AUTHORS Davies,J.P., Levy,B. and Ioannou,Y.A.
TITLE Evidence for a Niemann-pick C (NPC) gene family: identification and
characterization of NPC1L1
JOURNAL Genomics 65 (2), 137-145 (2000)
PUBMED 10783261
REFERENCE 2 (bases 1 to 2571)
AUTHORS Ioannou,Y.A., Davies,J.P. and Levy,B.
TITLE Direct Submission
JOURNAL Submitted (06-OCT-1999) Human Genetics, The Mount Sinai School of
Medicine, One Gustave L. Levy Place, New York, NY 10029, USA
FEATURES Location/Qualifiers
source 1..2571
/db_xref="H-InvDB:HIT000073288"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p13"
gene 1..2571
/gene="NPC1L1"
CDS 57..2231
/gene="NPC1L1"
/note="similar to Niemann-Pick C1 protein; alternatively
spliced"
/codon_start=1
/product="truncated Niemann-Pick C1-like protein 1"
/protein_id="AAF20397.1"
/translation="MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPE
LSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEAS
LSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFY
QHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDI
TFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTF
YLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTH
TLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARS
EKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQER
LRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQT
LMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSE
AEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDE
INRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMA
AMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQGP"
BASE COUNT 493 a 826 c 695 g 557 t
ORIGIN
1 cttggctgtt cctgaggcct ggcctggctc cccgctgacc ccttcccaga cctgggatgg
61 cggaggccgg cctgaggggc tggctgctgt gggccctgct cctgcgcttg gcccagagtg
121 agccttacac aaccatccac cagcctggct actgcgcctt ctatgacgaa tgtgggaaga
181 acccagagct gtctggaagc ctcatgacac tctccaacgt gtcctgcctg tccaacacgc
241 cggcccgcaa gatcacaggt gatcacctga tcctattaca gaagatctgc ccccgcctct
301 acaccggccc caacacccaa gcctgctgct ccgccaagca gctggtatca ctggaagcga
361 gtctgtcgat caccaaggcc ctcctcaccc gctgcccagc ctgctctgac aattttgtga
421 acctgcactg ccacaacacg tgcagcccca atcagagcct cttcatcaat gtgacccgcg
481 tggcccagct aggggctgga caactcccag ctgtggtggc ctatgaggcc ttctaccagc
541 atagctttgc cgagcagagc tatgactcct gcagccgtgt gcgcgtccct gcagctgcca
601 cgctggctgt gggcaccatg tgtggcgtgt atggctctgc cctttgcaat gcccagcgct
661 ggctcaactt ccagggagac acaggcaatg gtctggcccc actggacatc accttccacc
721 tcttggagcc tggccaggcc gtggggagtg ggattcagcc tctgaatgag ggggttgcac
781 gttgcaatga gtcccaaggt gacgacgtgg cgacctgctc ctgccaagac tgtgctgcat
841 cctgtcctgc catagcccgc ccccaggccc tcgactccac cttctacctg ggccagatgc
901 cgggcagtct ggtcctcatc atcatcctct gctctgtctt cgctgtggtc accatcctgc
961 ttgtgggatt ccgtgtggcc cccgccaggg acaaaagcaa gatggtggac cccaagaagg
1021 gcaccagcct ctctgacaag ctcagcttct ccacccacac cctccttggc cagttcttcc
1081 agggctgggg cacgtgggtg gcttcgtggc ctctgaccat cttggtgcta tctgtcatcc
1141 cggtggtggc cttggcagcg ggcctggtct ttacagaact cactacggac cccgtggagc
1201 tgtggtcggc ccccaacagc caagcccgga gtgagaaagc tttccatgac cagcatttcg
1261 gccccttctt ccgaaccaac caggtgatcc tgacggctcc taaccggtcc agctacaggt
1321 atgactctct gctgctgggg cccaagaact tcagcggaat cctggacctg gacttgctgc
1381 tggagctgct agagctgcag gagaggctgc ggcacctcca ggtatggtcg cccgaagcac
1441 agcgcaacat ctccctgcag gacatctgct acgcccccct caatccggac aataccagtc
1501 tctacgactg ctgcatcaac agcctcctgc agtatttcca gaacaaccgc acgctcctgc
1561 tgctcacagc caaccagaca ctgatggggc agacctccca agtcgactgg aaggaccatt
1621 ttctgtactg tgccaatgcc ccgctcacct tcaaggatgg cacagccctg gccctgagct
1681 gcatggctga ctacggggcc cctgtcttcc ccttccttgc cattgggggg tacaaaggaa
1741 aggactattc tgaggcagag gccctgatca tgacgttctc cctcaacaat taccctgccg
1801 gggacccccg tctggcccag gccaagctgt gggaggaggc cttcttagag gaaatgcgag
1861 ccttccagcg tcggatggct ggcatgttcc aggtcacgtt catggctgag cgctctctgg
1921 aagacgagat caatcgcacc acagctgaag acctgcccat ctttgccacc agctacattg
1981 tcatattcct gtacatctct ctggccctgg gcagctattc cagctggagc cgagtgatgg
2041 tggactccaa ggccacgctg ggcctcggcg gggtggccgt ggtcctggga gcagtcatgg
2101 ctgccatggg cttcttctcc tacttgggta tccgctcctc cctggtcatc ctgcaagtgg
2161 ttcctttcct ggtgctgtcc gtgggggctg ataacatctt catctttgtt ctcgagtacc
2221 aggggccctg acccccatgc cagctgtgcg gacctttgcc ctgacctctg gccttgcagt
2281 gatccttgac ttcctcctgc agatgtcagc ctttgtggcc ctgctctccc tggacagcaa
2341 gaggcaggag gtaggggcag ctgggccagt actgagggac ctgcccctgg gttcccacca
2401 tggcagggag atggggtggc tttaccacca cagagatggc ccagagaatg gggtggggga
2461 caggggcatt gtgccaggag agtaatattt aggccatgta ttctccaatt tcctacagaa
2521 aaataaattt gttttgacaa ttttttaaat ataaaaaaaa aaaaaaaaaa a
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