LOCUS AF002020 4673 bp mRNA linear HUM 24-JUL-1997 DEFINITION Homo sapiens Niemann-Pick C disease protein (NPC1) mRNA, complete cds. ACCESSION AF002020 VERSION AF002020.1 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 4673) AUTHORS Carstea,E.D., Morris,J.A., Coleman,K.G., Loftus,S.K., Zhang,D., Cummings,C., Gu,J., Rosenfeld,M.A., Pavan,W.J., Krizman,D.B., Nagle,J., Polymeropoulos,M.H., Sturley,S.L., Ioannou,Y.A., Higgins,M.E., Comly,M., Cooney,A., Brown,A., Kaneski,C.R., Blanchette-Mackie,E.J., Dwyer,N.K., Neufeld,E.B., Chang,T.Y., Liscum,L., Strauss,J.F. III, Ohno,K., Zeigler,M., Carmi,R., Sokol,J., Markie,D., O'Neill,R.R., van Diggelen,O.P., Elleder,M., Patterson,M.C., Brady,R.O., Vanier,M.T., Pentchev,P.G. and Tagle,D.A. TITLE Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis JOURNAL Science 277 (5323), 228-231 (1997) PUBMED 9211849 REFERENCE 2 (bases 1 to 4673) AUTHORS Morris,J.A. TITLE Direct Submission JOURNAL Submitted (02-MAY-1997) Dev. and Metabol. Neurology Branch, NINDS/NIH, Bldg. 10, Room 3D-04, Bethesda, MD 20892, USA FEATURES Location/Qualifiers source 1..4673 /db_xref="H-InvDB:HIT000061676" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="18" /map="18q11" gene 1..4673 /gene="NPC1" CDS 124..3960 /gene="NPC1" /codon_start=1 /product="Niemann-Pick C disease protein" /protein_id="AAB63982.1" /translation="MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEY SGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFY NLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNAC RDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGME PMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITY MAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGC LRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEK EYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAI ENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYAD YHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFP VNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTV VISYAIMFLYISLALGHIKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPL TLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSF SETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIF CCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKV DIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGC NNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVV DPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHG TRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFY EQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWG ISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITL TKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCA TEERYKGTERERLLNF" BASE COUNT 1103 a 1154 c 1131 g 1285 t ORIGIN 1 tttgctcctg ctcctccgct cctcctgcgc ggggtgctga aacagcccgg ggaagtagag 61 ccgcctccgg ggagcccaac cagccgaacg ccgccggcgt cagcagcctt gcgcggccac 121 agcatgaccg ctcgcggcct ggcccttggc ctcctcctgc tgctactgtg tccagcgcag 181 gtgttttcac agtcctgtgt ttggtatgga gagtgtggaa ttgcatatgg ggacaagagg 241 tacaattgcg aatattctgg cccaccaaaa ccattgccaa aggatggata tgacttagtg 301 caggaactct gtccaggatt cttctttggc aatgtcagtc tctgttgtga tgttcggcag 361 cttcagacac taaaagacaa cctgcagctg cctctacagt ttctgtccag atgtccatcc 421 tgtttttata acctactgaa cctgttttgt gagctgacat gtagccctcg acagagtcag 481 tttttgaatg ttacagctac tgaagattat gttgatcctg ttacaaacca gacgaaaaca 541 aatgtgaaag agttacaata ctacgtcgga cagagttttg ccaatgcaat gtacaatgcc 601 tgccgggatg tggaggcccc ctcaagtaat gacaaggccc tgggactcct gtgtgggaag 661 gacgctgacg cctgtaatgc caccaactgg attgaataca tgttcaataa ggacaatgga 721 caggcacctt ttaccatcac tcctgtgttt tcagattttc cagtccatgg gatggagccc 781 atgaacaatg ccaccaaagg ctgtgacgag tctgtggatg aggtcacagc accatgtagc 841 tgccaagact gctctattgt ctgtggcccc aagccccagc ccccacctcc tcctgctccc 901 tggacgatcc ttggcttgga cgccatgtat gtcatcatgt ggatcaccta catggcgttt 961 ttgcttgtgt tttttggagc attttttgca gtgtggtgct acagaaaacg gtattttgtc 1021 tccgagtaca ctcccatcga tagcaatata gctttttctg ttaatgcaag tgacaaagga 1081 gaggcgtcct gctgtgaccc tgtcagcgca gcatttgagg gctgcttgag gcggctgttc 1141 acacgctggg ggtctttctg cgtccgaaac cctggctgtg tcattttctt ctcgctggtc 1201 ttcattactg cgtgttcgtc aggcctggtg tttgtccggg tcacaaccaa tccagttgac 1261 ctctggtcag cccccagcag ccaggctcgc ctggaaaaag agtactttga ccagcacttt 1321 gggcctttct tccggacgga gcagctcatc atccgggccc ctctcactga caaacacatt 1381 taccagccat acccttcggg agctgatgta ccctttggac ctccgcttga catacagata 1441 ctgcaccagg ttcttgactt acaaatagcc atcgaaaaca ttactgcctc ttatgacaat 1501 gagactgtga cacttcaaga catctgcttg gcccctcttt caccgtataa cacgaactgc 1561 accattttga gtgtgttaaa ttacttccag aacagccatt ccgtgctgga ccacaagaaa 1621 ggggacgact tctttgtgta tgccgattac cacacgcact ttctgtactg cgtacgggct 1681 cctgcctctc tgaatgatac aagtttgctc catgaccctt gtctgggtac gtttggtgga 1741 ccagtgttcc cgtggcttgt gttgggaggc tatgatgatc aaaactacaa taacgccact 1801 gcccttgtga ttaccttccc tgtcaataat tactataatg atacagagaa gctccagagg 1861 gcccaggcct gggaaaaaga gtttattaat tttgtgaaaa actacaagaa tcccaatctg 1921 accatttcct tcactgctga acgaagtatt gaagatgaac taaatcgtga aagtgacagt 1981 gatgtcttca ccgttgtaat tagctatgcc atcatgtttc tatatatttc cctagccttg 2041 gggcacatca aaagctgtcg caggcttctg gtggattcga aggtctcact aggcatcgcg 2101 ggcatcttga tcgtgctgag ctcggtggct tgctccttgg gtgtcttcag ctacattggg 2161 ttgcccttga ccctcattgt gattgaagtc atcccgttcc tggtgctggc tgttggagtg 2221 gacaacatct tcattctggt gcaggcctac cagagagatg aacgtcttca aggggaaacc 2281 ctggatcagc agctgggcag ggtcctagga gaagtggctc ccagtatgtt cctgtcatcc 2341 ttttctgaga ctgtagcatt tttcttagga gcattgtccg tgatgccagc cgtgcacacc 2401 ttctctctct ttgcgggatt ggcagtcttc attgactttc ttctgcagat tacctgtttc 2461 gtgagtctct tggggttaga cattaaacgt caagagaaaa atcggctaga catcttttgc 2521 tgtgtcagag gtgctgaaga tggaacaagc gtccaggcct cagagagctg tttgtttcgc 2581 ttcttcaaaa actcctattc tccacttctg ctaaaggact ggatgagacc aattgtgata 2641 gcaatatttg tgggtgttct gtcattcagc atcgcagtcc tgaacaaagt agatattgga 2701 ttggatcagt ctctttcgat gccagatgac tcctacatgg tggattattt caaatccatc 2761 agtcagtacc tgcatgcggg tccgcctgtg tactttgtcc tggaggaagg gcacgactac 2821 acttcttcca aggggcagaa catggtgtgc ggcggcatgg gctgcaacaa tgattccctg 2881 gtgcagcaga tatttaacgc ggcgcagctg gacaactata cccgaatagg cttcgccccc 2941 tcgtcctgga tcgacgatta tttcgactgg gtgaagccac agtcgtcttg ctgtcgagtg 3001 gacaatatca ctgaccagtt ctgcaatgct tcagtggttg accctgcctg cgttcgctgc 3061 aggcctctga ctccggaagg caaacagagg cctcaggggg gagacttcat gagattcctg 3121 cccatgttcc tttcggataa ccctaacccc aagtgtggca aagggggaca tgctgcctat 3181 agttctgcag ttaacatcct ccttggccat ggcaccaggg tcggagccac gtacttcatg 3241 acctaccaca ccgtgctgca gacctctgct gactttattg acgctctgaa gaaagcccga 3301 cttatagcca gtaatgtcac cgaaaccatg ggcattaacg gcagtgccta ccgagtattt 3361 ccttacagtg tgttttatgt cttctacgaa cagtacctga ccatcattga cgacactatc 3421 ttcaacctcg gtgtgtccct gggcgcgata tttctggtga ccatggtcct cctgggctgt 3481 gagctctggt ctgcagtcat catgtgtgcc accatcgcca tggtcttggt caacatgttt 3541 ggagttatgt ggctctgggg catcagtctg aacgctgtat ccttggtcaa cctggtgatg 3601 agctgtggca tctccgtgga gttctgcagc cacataacca gagcgttcac ggtgagcatg 3661 aaaggcagcc gcgtggagcg cgcggaagag gcacttgccc acatgggcag ctccgtgttc 3721 agtggaatca cacttacaaa atttggaggg attgtggtgt tggcttttgc caaatctcaa 3781 attttccaga tattctactt caggatgtat ttggccatgg tcttactggg agccactcac 3841 ggattaatat ttctccctgt cttactcagt tacatagggc catcagtaaa taaagccaaa 3901 agttgtgcca ctgaagagcg atacaaagga acagagcgcg aacggcttct aaatttctag 3961 ccctctcgca gggcatcctg actgaactgt gtctaagggt cggtcggttt accactggac 4021 gggtgctgca tcggcaaggc caagttgaac accggatggt gccaaccatc ggttgtttgg 4081 cagcagcttt gaacgtagcg cctgtgaact caggaatgca cagttgactt gggaagcagt 4141 attactagat ctggaggcaa ccacaggaca ctaaacttct cccagcctct tcaggaaaga 4201 aacctcattc tttggcaagc aggaggtgac actagatggc tgtgaatgtg atccgctcac 4261 tgacactctg taaaggccaa tcaatgcact gtctgtcctc tcctttttag gagtaagcca 4321 tcccacaagt tctataccat atttttagtg acagttgagg ttgtagatac actttataac 4381 attttatagt ttaaagagct ttattaatgc aataaattaa ctttgtacac atttttatat 4441 aaaaaaacag caagtgattt cagaatgttg taggcctcat tagagcttgg tctccaaaaa 4501 tctgtttgaa aaaagcaaca tgttcttcac agtgttcccc tagaaaggaa gagatttaat 4561 tgccagttag atgtggcatg aaatgaggga caaagaaagc atctcgtagg tgtgtctact 4621 gggttttaac ttatttttct ttaataaaat acattgtttt cctaaaaaaa aaa //