LOCUS AF192522 5092 bp mRNA linear HUM 29-DEC-2003
DEFINITION Homo sapiens Niemann-Pick C1-like protein 1 (NPC1L1) mRNA, complete
cds.
ACCESSION AF192522
VERSION AF192522.1
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 5092)
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 5092)
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..5092
/db_xref="H-InvDB:HIT000073287"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p13"
gene 1..5092
/gene="NPC1L1"
CDS 57..4136
/gene="NPC1L1"
/note="similar to Niemann-Pick C1 protein"
/codon_start=1
/product="Niemann-Pick C1-like protein 1"
/protein_id="AAF20396.1"
/translation="MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPE
LSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEAS
LSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFY
QHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDI
TFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTF
YLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTH
TLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARS
EKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQER
LRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQT
LMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSE
AEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDE
INRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMA
AMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRAL
GRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLD
SKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLAL
FGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEA
GMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYIS
GPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLA
AYSTSVNLTSDGQVLDTVAILSPRLEYSGTISAHCNLYLLDSASRFMAYHKPLKNSQD
YTEALRAARELAANITADLRKVPGTDPAFEVFPYTITNVFYEQYLTILPEGLFMLSLC
LVPTFAVSCLLLGLDLRSGLLNLLSIVMILVDTVGFMALWGISYNAVSLINLVSAVGM
SVEFVSHITRSFAISTKPTWLERAKEATISMGSAVFAGVAMTNLPGILVLGLAKAQLI
QIFFFRLNLLITLLGLLHGLVFLPVILSYVGPDVNPALALEQKRAEEAVAAVMVASCP
NHPSRVSTADNIYVNHSFEGSIKGAGAISNFLPNNGRQF"
BASE COUNT 984 a 1634 c 1328 g 1146 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 agaggctgcc ccggaggcct ggggagccac gagaggtcca cattgggcga gccctaggca
2281 gggtggctcc cagcatgctg ttgtgcagcc tctctgaggc catctgcttc ttcctagggg
2341 ccctgacccc catgccagct gtgcggacct ttgccctgac ctctggcctt gcagtgatcc
2401 ttgacttcct cctgcagatg tcagcctttg tggccctgct ctccctggac agcaagaggc
2461 aggaggcctc ccggttggac gtctgctgct gtgtcaagcc ccaggagctg cccccgcctg
2521 gccagggaga ggggctcctg cttggcttct tccaaaaggc ttatgccccc ttcctgctgc
2581 actggatcac tcgaggtgtt gtgctgctgc tgtttctcgc cctgttcgga gtgagcctct
2641 actccatgtg ccacatcagc gtgggactgg accaggagct ggccctgccc aaggactcgt
2701 acctgcttga ctatttcctc tttctgaacc gctacttcga ggtgggggcc ccggtgtact
2761 ttgttaccac cttgggctac aacttctcca gcgaggctgg gatgaatgcc atctgctcca
2821 gtgcaggctg caacaacttc tccttcaccc agaagatcca gtatgccaca gagttccctg
2881 agcagtctta cctggccatc cctgcctcct cctgggtgga tgacttcatt gactggctga
2941 ccccgtcctc ctgctgccgc ctttatatat ctggccccaa taaggacaag ttctgcccct
3001 cgaccgtcaa ctctctgaac tgcctaaaga actgcatgag catcacgatg ggctctgtga
3061 ggccctcggt ggagcagttc cataagtatc ttccctggtt cctgaacgac cggcccaaca
3121 tcaaatgtcc caaaggcggc ctggcagcat acagcacctc tgtgaacttg acttcagatg
3181 gccaggtttt agacacagtt gccattctgt cacccaggct ggagtacagt ggcacaatct
3241 cggctcactg caacctctac ctcctggatt cagcctccag gttcatggcc tatcacaagc
3301 ccctgaaaaa ctcacaggat tacacagaag ctctgcgggc agctcgagag ctggcagcca
3361 acatcactgc tgacctgcgg aaagtgcctg gaacagaccc ggcttttgag gtcttcccct
3421 acacgatcac caatgtgttt tatgagcagt acctgaccat cctccctgag gggctcttca
3481 tgctcagcct ctgccttgtg cccaccttcg ctgtctcctg cctcctgctg ggcctggacc
3541 tgcgctccgg cctcctcaac ctgctctcca ttgtcatgat cctcgtggac actgtcggct
3601 tcatggccct gtggggcatc agttacaatg ctgtgtccct catcaacctg gtctcggcgg
3661 tgggcatgtc tgtggagttt gtgtcccaca ttacccgctc ctttgccatc agcaccaagc
3721 ccacctggct ggagagggcc aaagaggcca ccatctctat gggaagtgcg gtgtttgcag
3781 gtgtggccat gaccaacctg cctggcatcc ttgtcctggg cctcgccaag gcccagctca
3841 ttcagatctt cttcttccgc ctcaacctcc tgatcactct gctgggcctg ctgcatggct
3901 tggtcttcct gcccgtcatc ctcagctacg tggggcctga cgttaacccg gctctggcac
3961 tggagcagaa gcgggctgag gaggcggtgg cagcagtcat ggtggcctct tgcccaaatc
4021 acccctcccg agtctccaca gctgacaaca tctatgtcaa ccacagcttt gaaggttcta
4081 tcaaaggtgc tggtgccatc agcaacttct tgcccaacaa tgggcggcag ttctgataca
4141 gccagaggcc ctgtctaggc tctatggccc tgaaccaaag ggttatgggg atcttccttg
4201 tgactgcccc ttgacacacg ccctcctcaa atcctagggg aggccattcc catgagactg
4261 cctgtcactg gaggatggcc tgctcttgag gtatccaggc agcaccactg atggctcctc
4321 tgctcccata gtgggtcccc agtttccaag tcacctaggc cttgggcagt gcctcctcct
4381 gggcctgggt ctggaagttg gcaggaacag acacactcca tgtttgtccc acactcactc
4441 actttcctag gagcccactt ctcatccaac ttttcccttc tcagttcctc tctcgaaagt
4501 cttaattctg tgtcagtaag tctttaacac gtagcagtgt ccctgagaac acagacaatg
4561 accactaccc tgggtgtgat atcacaggag gccagagaga ggcaaaggct caggccaaga
4621 gccaacgctg tgggaggccg gtcggcagcc actccctcca gggcgcacct gcaggtctgc
4681 catccacggc cttttctggc aagagaaggg cccaggaagg atgctctcat aaggcccagg
4741 aaggatgctc tcataagcac cttggtcatg gattagcccc tcctggaaaa tggtgttggg
4801 tttggtctcc agctccaata cttattaagg ctgttgctgc cagtcaaggc cacccaggag
4861 tctgaaggct gggagctctt ggggctgggc tggtcctccc atcttcacct cgggcctgga
4921 tcccaggcct caaaccagcc caacccgagc ttttggacag ctctccagaa gcatgaactg
4981 cagtggagat gaagatcctg gctctgtgct gtgcacatag gtgtttaata aacatttgtt
5041 ggcagaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
//