LOCUS BC063302 4650 bp mRNA linear HUM 17-JUL-2006
DEFINITION Homo sapiens Niemann-Pick disease, type C1, mRNA (cDNA clone
MGC:71703 IMAGE:30340517), complete cds.
ACCESSION BC063302
VERSION BC063302.1
KEYWORDS MGC.
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 4650)
AUTHORS Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G.,
Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D.,
Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K.,
Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F.,
Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L.,
Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L.,
Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S.,
Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J.,
Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J.,
McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S.,
Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W.,
Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A.,
Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S.,
Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y.,
Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D.,
Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M.,
Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E.,
Schnerch,A., Schein,J.E., Jones,S.J. and Marra,M.A.
CONSRTM Mammalian Gene Collection Program Team
TITLE Generation and initial analysis of more than 15,000 full-length
human and mouse cDNA sequences
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16899-16903 (2002)
PUBMED 12477932
REFERENCE 2 (bases 1 to 4650)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (02-DEC-2003) National Institutes of Health, Mammalian
Gene Collection (MGC), Bethesda, MD 20892-2590, USA
REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: Dr. Stefan Hansson
cDNA Library Preparation: Michael Brownstein / Ted Usdin
Laboratory
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Sequencing Group at the Stanford Human Genome
Center, Stanford University School of Medicine, Stanford, CA 94305
Web site: http://www-shgc.stanford.edu
Contact: (Dickson, Mark) mcd@paxil.stanford.edu
Dickson, M., Schmutz, J., Grimwood, J., Rodriquez, A., and Myers,
R. M.
Clone distribution: MGC clone distribution information can be found
through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
Series: IRAK Plate: 133 Row: d Column: 6
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 4557802.
FEATURES Location/Qualifiers
source 1..4650
/db_xref="H-InvDB:HIT000260823"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:71703 IMAGE:30340517"
/tissue_type="Placenta, normal"
/clone_lib="NIH_MGC_147"
/lab_host="DH10B"
/note="Vector: pBluescriptR"
gene 1..4650
/gene="NPC1"
/gene_synonym="NPC"
/db_xref="GeneID:4864"
/db_xref="HGNC:HGNC:7897"
/db_xref="MIM:607623"
CDS 98..3934
/gene="NPC1"
/gene_synonym="NPC"
/codon_start=1
/product="Niemann-Pick disease, type C1"
/protein_id="AAH63302.1"
/db_xref="GeneID:4864"
/db_xref="HGNC:HGNC:7897"
/db_xref="MIM:607623"
/translation="MTARGLALGLLLLLLCPAQVFSQSCVWYGECGIAYGDKRYNCEY
SGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFY
NLLNLFCELTCSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQGFANAMYNAC
RDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHGME
PMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITY
MAFLLVFFGAFFAVWCYRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGC
LRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEK
EYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAI
ENITASYDNETVTLQDICLAPLSPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYAD
YHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFP
VNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTV
VISYAIMFLYISLALGHIKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPL
TLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSF
SETVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIF
CCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVLSFSIAVLNKV
DIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGC
NNDSLVQQIFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVV
DPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNILLGHG
TRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFY
EQYLTIIDDTIFNLGVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWG
ISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITL
TKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFLPVLLSYIGPSVNKAKSCA
TEERYKGTERERLLNF"
BASE COUNT 1107 a 1141 c 1127 g 1275 t
ORIGIN
1 gctcggggtg ctgaaacagc ccggggaagt agagccgcct ccggggagcc caaccagccg
61 aacgccgccg gcgtcagcag ccttgcgcgg ccacagcatg accgctcgcg gcctggccct
121 tggcctcctc ctgctgctac tgtgtccagc gcaggtgttt tcacagtcct gtgtttggta
181 tggagagtgt ggaattgcat atggggacaa gaggtacaat tgcgaatatt ctggcccacc
241 aaaaccattg ccaaaggatg gatatgactt agtgcaggaa ctctgtccag gattcttctt
301 tggcaatgtc agtctctgtt gtgatgttcg gcagcttcag acactaaaag acaacctgca
361 gctgcctcta cagtttctgt ccagatgtcc atcctgtttt tataacctac tgaacctgtt
421 ttgtgagctg acatgtagcc ctcgacagag tcagtttttg aatgttacag ctactgaaga
481 ttacgttgat cctgttacaa accagacgaa aacaaatgtg aaagagttac aatactacgt
541 cggacagggt tttgccaatg caatgtacaa tgcctgccgg gatgtggagg ccccctcaag
601 taatgacaag gccctgggac tcctgtgtgg gaaggacgct gacgcctgta atgccaccaa
661 ctggattgaa tacatgttca ataaggacaa tggacaggca ccttttacca tcactcctgt
721 gttttcagat tttccagtcc atgggatgga gcccatgaac aatgccacca aaggctgtga
781 cgagtctgtg gatgaggtca cagcaccatg tagctgccaa gactgctcta ttgtctgtgg
841 ccccaagccc cagcccccac ctcctcctgc tccctggacg atccttggct tggacgccat
901 gtatgtcatc atgtggatca cctacatggc gtttttgctt gtgttttttg gagcattttt
961 tgcagtgtgg tgctacagaa aacggtattt tgtctccgag tacactccca tcgatagcaa
1021 tatagctttt tctgttaatg caagtgacaa aggagaggcg tcctgctgtg accctgtcag
1081 cgcagcattt gagggctgct tgaggcggct gttcacacgc tgggggtctt tctgcgtccg
1141 aaaccctggc tgtgtcattt tcttctcgct ggtcttcatt actgcgtgtt cgtcaggcct
1201 ggtgtttgtc cgggtcacaa ccaatccagt tgacctctgg tcagccccca gcagccaggc
1261 tcgcctggaa aaagagtact ttgaccagca ctttgggcct ttcttccgga cggagcagct
1321 catcatccgg gcccctctca ctgacaaaca catttaccag ccataccctt cgggagctga
1381 tgtacccttt ggacctccgc ttgacataca gatactgcac caggttcttg acttacaaat
1441 agccatcgaa aacattactg cctcttatga caatgagact gtgacacttc aagacatctg
1501 cttggcccct ctttcaccgt ataacacgaa ctgcaccatt ttgagtgtgt taaattactt
1561 ccagaacagc cattccgtgc tggaccacaa gaaaggggac gacttctttg tgtatgccga
1621 ttaccacacg cactttctgt actgcgtacg ggctcctgcc tctctgaatg atacaagttt
1681 gctccatgac ccttgtctgg gtacgtttgg tggaccagtg ttcccgtggc ttgtgttggg
1741 aggctatgat gatcaaaact acaataacgc cactgccctt gtgattacct tccctgtcaa
1801 taattactat aatgatacag agaagctcca gagggcccag gcctgggaaa aagagtttat
1861 taattttgtg aaaaactaca agaatcccaa tctgaccatt tccttcactg ctgaacgaag
1921 tattgaagat gaactaaatc gtgaaagtga cagtgatgtc ttcaccgttg taattagcta
1981 tgccatcatg tttctatata tttccctagc cttggggcac atcaaaagct gtcgcaggct
2041 tctggtggat tcgaaggtct cactaggcat cgcgggcatc ttgatcgtgc tgagctcggt
2101 ggcttgctcc ttgggtgtct tcagctacat tgggttgccc ttgaccctca ttgtgattga
2161 agtcatcccg ttcctggtgc tggctgttgg agtggacaac atcttcattc tggtgcaggc
2221 ctaccagaga gatgaacgtc ttcaagggga aaccctggat cagcagctgg gcagggtcct
2281 aggagaagtg gctcccagta tgttcctgtc atccttttct gagactgtag catttttctt
2341 aggagcattg tccgtgatgc cagccgtgca caccttctct ctctttgcgg gattggcagt
2401 cttcattgac tttcttctgc agattacctg tttcgtgagt ctcttggggt tagacattaa
2461 acgtcaagag aaaaatcggc tagacatctt ttgctgtgtc agaggtgctg aagatggaac
2521 aagcgtccag gcctcagaga gctgtttgtt tcgcttcttc aaaaactcct attctccact
2581 tctgctaaag gactggatga gaccaattgt gatagcaata tttgtgggtg ttctgtcatt
2641 cagcatcgca gtcctgaaca aagtagatat tggattggat cagtctcttt cgatgccaga
2701 tgactcctac atggtggatt atttcaaatc catcagtcag tacctgcatg cgggtccgcc
2761 tgtgtacttt gtcctggagg aagggcacga ctacacttct tccaaggggc agaacatggt
2821 gtgcggcggc atgggctgca acaatgattc cctggtgcag cagatattta acgcggcgca
2881 gctggacaac tatacccgaa taggcttcgc cccctcgtcc tggatcgacg attatttcga
2941 ctgggtgaag ccacagtcgt cttgctgtcg agtggacaat atcactgacc agttctgcaa
3001 tgcttcagtg gttgaccctg cctgcgttcg ctgcaggcct ctgactccgg aaggcaaaca
3061 gaggcctcag gggggagact tcatgagatt cctgcccatg ttcctttcgg ataaccctaa
3121 ccccaagtgt ggcaaagggg gacatgctgc ctatagttct gcagttaaca tcctccttgg
3181 ccatggcacc agggtcggag ccacgtactt catgacctac cacaccgtgc tgcagacctc
3241 tgctgacttt attgacgctc tgaagaaagc ccgacttata gccagtaatg tcaccgaaac
3301 catgggcatt aacggcagtg cctaccgagt atttccttac agtgtgtttt atgtcttcta
3361 cgaacagtac ctgaccatca ttgacgacac tatcttcaac ctcggtgtgt ccctgggcgc
3421 gatatttctg gtgaccatgg tcctcctggg ctgtgagctc tggtctgcag tcatcatgtg
3481 tgccaccatc gccatggtct tggtcaacat gtttggagtt atgtggctct ggggcatcag
3541 tctgaacgct gtatccttgg tcaacctggt gatgagctgt ggcatctccg tggagttctg
3601 cagccacata accagagcgt tcacggtgag catgaaaggc agccgcgtgg agcgcgcgga
3661 agaggcactt gcccacatgg gcagctccgt gttcagtgga atcacactta caaaatttgg
3721 agggattgtg gtgttggctt ttgccaaatc tcaaattttc cagatattct acttcaggat
3781 gtatttggcc atggtcttac tgggagccac tcacggatta atatttctcc ctgtcttact
3841 cagttacata gggccatcag taaataaagc caaaagttgt gccactgaag agcgatacaa
3901 aggaacagag cgcgaacggc ttctaaattt ctagccctct cgcagggcat cctgactgaa
3961 ctgtgtctaa gggtcggtcg gtttaccact ggacgggtgc tgcatcggca aggccaagtt
4021 gaacaccgga tggtgccaac catcggttgt ttggcagcag ctttgaacgt agcgcctgtg
4081 aactcaggaa tgcacagttg acttgggaag cagtattact agatctggag gcaaccacag
4141 gacactaaac ttctcccagc ctcttcagga aagaaacctc attctttggc aagcaggagg
4201 tgacactaga tggctgtgaa tgtgatccgc tcactgacac tctgtaaagg ccaatcaatg
4261 cactgtctgt ctctcctttt aggagtaagc catcccacaa gttctatacc atatttttag
4321 tgacagttga gtttgtagat acactttata acattttata gtttaaagag ctttattaat
4381 gcaataaatt aactttgtac acatttttat ataaaaaaac agcaagtgat ttcagaatgt
4441 tgtaggcctc attagagctt ggtctccaaa aatctgtttg aaaaaagcaa catgttcttc
4501 acagtgttcc cctagaaagg aagagattta attgccagtt agatgtggca tgaaatgagg
4561 gacaaagaaa gcatctcgta ggtgtgtcta ctgggtttta acttattttt ctttaataaa
4621 atacattgtt ttcctaaaaa aaaaaaaaaa
//