LOCUS AY515256 3999 bp mRNA linear HUM 14-MAR-2004
DEFINITION Homo sapiens NPC1L1 splice variant (NPC1L1) mRNA, complete cds,
alternatively spliced.
ACCESSION AY515256
VERSION AY515256.1
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 3999)
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 3999)
AUTHORS Davies,J.P. and Ioannou,Y.A.
TITLE Direct Submission
JOURNAL Submitted (30-DEC-2003) Human Genetics, Mount Sinai School of
Medicine, 1 Gustave L. Levy Place, New York, NY 10029, USA
FEATURES Location/Qualifiers
source 1..3999
/db_xref="H-InvDB:HIT000255099"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7p13"
gene 1..3999
/gene="NPC1L1"
CDS 1..3999
/gene="NPC1L1"
/note="Niemann-Pick type C1-like 1 minus exon 15;
alternatively spliced version of GenBank Accession Numbers
AF192522 and AF192523; lacks exon 15"
/codon_start=1
/product="NPC1L1 splice variant"
/protein_id="AAS56939.1"
/translation="MAEAGLRGWLLWALLLRLAQSEPYTTIHQPGYCAFYDECGKNPE
LSGSLMTLSNVSCLSNTPARKITGDHLILLQKICPRLYTGPNTQACCSAKQLVSLEAS
LSITKALLTRCPACSDNFVNLHCHNTCSPNQSLFINVTRVAQLGAGQLPAVVAYEAFY
QHSFAEQSYDSCSRVRVPAAATLAVGTMCGVYGSALCNAQRWLNFQGDTGNGLAPLDI
TFHLLEPGQAVGSGIQPLNEGVARCNESQGDDVATCSCQDCAASCPAIARPQALDSTF
YLGQMPGSLVLIIILCSVFAVVTILLVGFRVAPARDKSKMVDPKKGTSLSDKLSFSTH
TLLGQFFQGWGTWVASWPLTILVLSVIPVVALAAGLVFTELTTDPVELWSAPNSQARS
EKAFHDQHFGPFFRTNQVILTAPNRSSYRYDSLLLGPKNFSGILDLDLLLELLELQER
LRHLQVWSPEAQRNISLQDICYAPLNPDNTSLYDCCINSLLQYFQNNRTLLLLTANQT
LMGQTSQVDWKDHFLYCANAPLTFKDGTALALSCMADYGAPVFPFLAIGGYKGKDYSE
AEALIMTFSLNNYPAGDPRLAQAKLWEEAFLEEMRAFQRRMAGMFQVTFMAERSLEDE
INRTTAEDLPIFATSYIVIFLYISLALGSYSSWSRVMVDSKATLGLGGVAVVLGAVMA
AMGFFSYLGIRSSLVILQVVPFLVLSVGADNIFIFVLEYQRLPRRPGEPREVHIGRAL
GRVAPSMLLCSLSEAICFFLGALTPMPAVRTFALTSGLAVILDFLLQMSAFVALLSLD
SKRQEASRLDVCCCVKPQELPPPGQGEGLLLGFFQKAYAPFLLHWITRGVVLLLFLAL
FGVSLYSMCHISVGLDQELALPKDSYLLDYFLFLNRYFEVGAPVYFVTTLGYNFSSEA
GMNAICSSAGCNNFSFTQKIQYATEFPEQSYLAIPASSWVDDFIDWLTPSSCCRLYIS
GPNKDKFCPSTVNSLNCLKNCMSITMGSVRPSVEQFHKYLPWFLNDRPNIKCPKGGLA
AYSTSVNLTSDGQVLASRFMAYHKPLKNSQDYTEALRAARELAANITADLRKVPGTDP
AFEVFPYTITNVFYEQYLTILPEGLFMLSLCLVPTFAVSCLLLGLDLRSGLLNLLSIV
MILVDTVGFMALWGISYNAVSLINLVSAVGMSVEFVSHITRSFAISTKPTWLERAKEA
TISMGSAVFAGVAMTNLPGILVLGLAKAQLIQIFFFRLNLLITLLGLLHGLVFLPVIL
SYVGPDVNPALALEQKRAEEAVAAVMVASCPNHPSRVSTADNIYVNHSFEGSIKGAGA
ISNFLPNNGRQF"
BASE COUNT 722 a 1316 c 1058 g 903 t
ORIGIN
1 atggcggagg ccggcctgag gggctggctg ctgtgggccc tgctcctgcg cttggcccag
61 agtgagcctt acacaaccat ccaccagcct ggctactgcg ccttctatga cgaatgtggg
121 aagaacccag agctgtctgg aagcctcatg acactctcca acgtgtcctg cctgtccaac
181 acgccggccc gcaagatcac aggtgatcac ctgatcctat tacagaagat ctgcccccgc
241 ctctacaccg gccccaacac ccaagcctgc tgctccgcca agcagctggt atcactggaa
301 gcgagtctgt cgatcaccaa ggccctcctc acccgctgcc cagcctgctc tgacaatttt
361 gtgaacctgc actgccacaa cacgtgcagc cccaatcaga gcctcttcat caatgtgacc
421 cgcgtggccc agctaggggc tggacaactc ccagctgtgg tggcctatga ggccttctac
481 cagcatagct ttgccgagca gagctatgac tcctgcagcc gtgtgcgcgt ccctgcagct
541 gccacgctgg ctgtgggcac catgtgtggc gtgtatggct ctgccctttg caatgcccag
601 cgctggctca acttccaggg agacacaggc aatggtctgg ccccactgga catcaccttc
661 cacctcttgg agcctggcca ggccgtgggg agtgggattc agcctctgaa tgagggggtt
721 gcacgttgca atgagtccca aggtgacgac gtggcgacct gctcctgcca agactgtgct
781 gcatcctgtc ctgccatagc ccgcccccag gccctcgact ccaccttcta cctgggccag
841 atgccgggca gtctggtcct catcatcatc ctctgctctg tcttcgctgt ggtcaccatc
901 ctgcttgtgg gattccgtgt ggcccccgcc agggacaaaa gcaagatggt ggaccccaag
961 aagggcacca gcctctctga caagctcagc ttctccaccc acaccctcct tggccagttc
1021 ttccagggct ggggcacgtg ggtggcttcg tggcctctga ccatcttggt gctatctgtc
1081 atcccggtgg tggccttggc agcgggcctg gtctttacag aactcactac ggaccccgtg
1141 gagctgtggt cggcccccaa cagccaagcc cggagtgaga aagctttcca tgaccagcat
1201 ttcggcccct tcttccgaac caaccaggtg atcctgacgg ctcctaaccg gtccagctac
1261 aggtatgact ctctgctgct ggggcccaag aacttcagcg gaatcctgga cctggacttg
1321 ctgctggagc tgctagagct gcaggagagg ctgcggcacc tccaggtatg gtcgcccgaa
1381 gcacagcgca acatctccct gcaggacatc tgctacgccc ccctcaatcc ggacaatacc
1441 agtctctacg actgctgcat caacagcctc ctgcagtatt tccagaacaa ccgcacgctc
1501 ctgctgctca cagccaacca gacactgatg gggcagacct cccaagtcga ctggaaggac
1561 cattttctgt actgtgccaa tgccccgctc accttcaagg atggcacagc cctggccctg
1621 agctgcatgg ctgactacgg ggcccctgtc ttccccttcc ttgccattgg ggggtacaaa
1681 ggaaaggact attctgaggc agaggccctg atcatgacgt tctccctcaa caattaccct
1741 gccggggacc cccgtctggc ccaggccaag ctgtgggagg aggccttctt agaggaaatg
1801 cgagccttcc agcgtcggat ggctggcatg ttccaggtca cgttcatggc tgagcgctct
1861 ctggaagacg agatcaatcg caccacagct gaagacctgc ccatctttgc caccagctac
1921 attgtcatat tcctgtacat ctctctggcc ctgggcagct attccagctg gagccgagtg
1981 atggtggact ccaaggccac gctgggcctc ggcggggtgg ccgtggtcct gggagcagtc
2041 atggctgcca tgggcttctt ctcctacttg ggtatccgct cctccctggt catcctgcaa
2101 gtggttcctt tcctggtgct gtccgtgggg gctgataaca tcttcatctt tgttctcgag
2161 taccagaggc tgccccggag gcctggggag ccacgagagg tccacattgg gcgagcccta
2221 ggcagggtgg ctcccagcat gctgttgtgc agcctctctg aggccatctg cttcttccta
2281 ggggccctga cccccatgcc agctgtgcgg acctttgccc tgacctctgg ccttgcagtg
2341 atccttgact tcctcctgca gatgtcagcc tttgtggccc tgctctccct ggacagcaag
2401 aggcaggagg cctcccggtt ggacgtctgc tgctgtgtca agccccagga gctgcccccg
2461 cctggccagg gagaggggct cctgcttggc ttcttccaaa aggcttatgc ccccttcctg
2521 ctgcactgga tcactcgagg tgttgtgctg ctgctgtttc tcgccctgtt cggagtgagc
2581 ctctactcca tgtgccacat cagcgtggga ctggaccagg agctggccct gcccaaggac
2641 tcgtacctgc ttgactattt cctctttctg aaccgctact tcgaggtggg ggccccggtg
2701 tactttgtta ccaccttggg ctacaacttc tccagcgagg ctgggatgaa tgccatctgc
2761 tccagtgcag gctgcaacaa cttctccttc acccagaaga tccagtatgc cacagagttc
2821 cctgagcagt cttacctggc catccctgcc tcctcctggg tggatgactt cattgactgg
2881 ctgaccccgt cctcctgctg ccgcctttat atatctggcc ccaataagga caagttctgc
2941 ccctcgaccg tcaactctct gaactgccta aagaactgca tgagcatcac gatgggctct
3001 gtgaggccct cggtggagca gttccataag tatcttccct ggttcctgaa cgaccggccc
3061 aacatcaaat gtcccaaagg cggcctggca gcatacagca cctctgtgaa cttgacttca
3121 gatggccagg ttttagcctc caggttcatg gcctatcaca agcccctgaa aaactcacag
3181 gattacacag aagctctgcg ggcagctcga gagctggcag ccaacatcac tgctgacctg
3241 cggaaagtgc ctggaacaga cccggctttt gaggtcttcc cctacacgat caccaatgtg
3301 ttttatgagc agtacctgac catcctccct gaggggctct tcatgctcag cctctgcctt
3361 gtgcccacct tcgctgtctc ctgcctcctg ctgggcctgg acctgcgctc cggcctcctc
3421 aacctgctct ccattgtcat gatcctcgtg gacactgtcg gcttcatggc cctgtggggc
3481 atcagttaca atgctgtgtc cctcatcaac ctggtctcgg cggtgggcat gtctgtggag
3541 tttgtgtccc acattacccg ctcctttgcc atcagcacca agcccacctg gctggagagg
3601 gccaaagagg ccaccatctc tatgggaagt gcggtgtttg caggtgtggc catgaccaac
3661 ctgcctggca tccttgtcct gggcctcgcc aaggcccagc tcattcagat cttcttcttc
3721 cgcctcaacc tcctgatcac tctgctgggc ctgctgcatg gcttggtctt cctgcccgtc
3781 atcctcagct acgtggggcc tgacgttaac ccggctctgg cactggagca gaagcgggct
3841 gaggaggcgg tggcagcagt catggtggcc tcttgcccaa atcacccctc ccgagtctcc
3901 acagctgaca acatctatgt caaccacagc tttgaaggtt ctatcaaagg tgctggtgcc
3961 atcagcaact tcttgcccaa caatgggcgg cagttctga
//