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
//