LOCUS FJ481111 3999 bp mRNA linear HUM 10-JAN-2009 DEFINITION Homo sapiens NPC1-like 1 protein (NPC11L1) mRNA, complete cds. ACCESSION FJ481111 VERSION FJ481111.1 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 Wang,J., Chu,B.-B., Ge,L. and Song,B.-L. TITLE Membrane Topology of Human NPC1L1, a Protein that Plays a Key Role in Enterohepatic Cholesterol Absorption JOURNAL Unpublished REFERENCE 2 (bases 1 to 3999) AUTHORS Song,B.-L., Ge,L., Wang,J. and Wang,J. TITLE Direct Submission JOURNAL Submitted (22-NOV-2008) Molecular Biology, Institute of Biochemistry and Cell Biology, No. 320 Yue Yang Road, Shanghai, Shanghai 086-20031, China FEATURES Location/Qualifiers source 1..3999 /db_xref="H-InvDB:HIT000558634" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /cell_type="hepatocytes" gene 1..3999 /gene="NPC11L1" CDS 1..3999 /gene="NPC11L1" /note="cholesterol transporter; Niemann-Pick disease type C1; multitransmembrane protein that plays a key role in cholesterol absorption in the instestine and liver" /codon_start=1 /product="NPC1-like 1 protein" /protein_id="ACL18055.1" /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" misc_feature 859..912 /gene="NPC11L1" /note="TMhelix-1; transmembrane region" misc_feature 1057..1107 /gene="NPC11L1" /note="TMhelix-2; transmembrane region" misc_feature 1897..1953 /gene="NPC11L1" /note="TMhelix-3; transmembrane region" misc_feature 2002..2049 /gene="NPC11L1" /note="TMhelix-4; transmembrane region" misc_feature 2086..2133 /gene="NPC11L1" /note="TMhelix-5; transmembrane region" misc_feature 2233..2289 /gene="NPC11L1" /note="TMhelix-6; transmembrane region" misc_feature 2335..2391 /gene="NPC11L1" /note="TMhelix-7; transmembrane region" misc_feature 2539..2583 /gene="NPC11L1" /note="TMhelix-8; transmembrane region" misc_feature 3334..3399 /gene="NPC11L1" /note="TMhelix-9; transmembrane region" misc_feature 3406..3462 /gene="NPC11L1" /note="TMhelix-10; transmembrane region" misc_feature 3511..3558 /gene="NPC11L1" /note="TMhelix-11; transmembrane region" misc_feature 3610..3690 /gene="NPC11L1" /note="TMhelix-12; transmembrane region" misc_feature 3724..3780 /gene="NPC11L1" /note="TMhelix-13; transmembrane region" variation 816 /gene="NPC11L1" /note="compared to NM_001101648.1" /replace="c" variation 2029 /gene="NPC11L1" /note="compared to NM_001101648.1" /replace="c" variation 3792 /gene="NPC11L1" /note="compared to NM_001101648.1" /replace="c" variation 3807 /gene="NPC11L1" /note="compared to NM_001101648.1" /replace="t" BASE COUNT 722 a 1314 c 1059 g 904 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 gccctggact 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 ccgtggtctt 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 atgtggggcc tgacgtcaac ccggctctgg cactggagca gaagcgggct 3841 gaggaggcgg tggcagcagt catggtggcc tcttgcccaa atcacccctc ccgagtctcc 3901 acagctgaca acatctatgt caaccacagc tttgaaggtt ctatcaaagg tgctggtgcc 3961 atcagcaact tcttgcccaa caatgggcgg cagttctga //