LOCUS BC002532 920 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens Niemann-Pick disease, type C2, mRNA (cDNA clone
MGC:1333 IMAGE:3140870), complete cds.
ACCESSION BC002532
VERSION BC002532.2
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 920)
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 920)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (05-FEB-2001) National Institutes of Health, Mammalian
Gene Collection (MGC), Bethesda, MD 20892-2590, USA
REMARK NIH-MGC Project URL: http://mgc.nci.nih.gov
COMMENT On Aug 19, 2003 this sequence version replaced BC002532.1.
Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: DCTD/DTP
cDNA Library Preparation: Rubin Laboratory
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: National Institutes of Health Intramural
Sequencing Center (NISC),
Gaithersburg, Maryland;
Web site: http://www.nisc.nih.gov/
Contact: nisc_mgc@nhgri.nih.gov
Akhter,N., Ayele,K., Beckstrom-Sternberg,S.M., Benjamin,B.,
Blakesley,R.W., Bouffard,G.G., Breen,K., Brinkley,C., Brooks,S.,
Dietrich,N.L., Granite,S., Guan,X., Gupta,J., Haghighi,P.,
Hansen,N., Ho,S.-L., Karlins,E., Kwong,P., Laric,P., Legaspi,R.,
Maduro,Q.L., Masiello,C., Maskeri,B., Mastrian,S.D.,McCloskey,J.C.,
McDowell,J., Pearson,R., Stantripop,S., Thomas,P.J., Touchman,J.W.,
Tsurgeon,C., Vogt,J.L., Walker,M.A., Wetherby,K.D., Wiggins,L.,
Young,A., Zhang,L.-H. and Green,E.D.
Clone distribution: MGC clone distribution information can be found
through the I.M.A.G.E. Consortium/LLNL at: http://image.llnl.gov
Series: IRAL Plate: 4 Row: k Column: 24
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 29171756.
FEATURES Location/Qualifiers
source 1..920
/db_xref="H-InvDB:HIT000030970"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:1333 IMAGE:3140870"
/tissue_type="Ovary, adenocarcinoma"
/clone_lib="NIH_MGC_9"
/lab_host="DH10B-R"
/note="Vector: pOTB7"
gene 1..920
/gene="NPC2"
/gene_synonym="HE1"
/gene_synonym="MGC1333"
/gene_synonym="NP-C2"
/db_xref="GeneID:10577"
/db_xref="HGNC:HGNC:14537"
/db_xref="MIM:601015"
CDS 107..562
/gene="NPC2"
/gene_synonym="HE1"
/gene_synonym="MGC1333"
/gene_synonym="NP-C2"
/codon_start=1
/product="Niemann-Pick disease, type C2"
/protein_id="AAH02532.1"
/db_xref="GeneID:10577"
/db_xref="HGNC:HGNC:14537"
/db_xref="MIM:601015"
/translation="MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPT
QPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQ
KDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL"
BASE COUNT 234 a 232 c 209 g 245 t
ORIGIN
1 acaggtcgcc tgactgggct cctccccggg cccgccccga caggtttgtc ttgtgaccgc
61 gggcggccgc tgcttctttc ccgagcttgg aacttcgtta tccgcgatgc gtttcctggc
121 agctacattc ctgctcctgg cgctcagcac cgctgcccag gccgaaccgg tgcagttcaa
181 ggactgcggt tctgtggatg gagttataaa ggaagtgaat gtgagcccat gccccaccca
241 accctgccag ctgagcaaag gacagtctta cagcgtcaat gtcaccttca ccagcaatat
301 tcagtctaaa agcagcaagg ccgtggtgca tggcatcctg atgggcgtcc cagttccctt
361 tcccattcct gagcctgatg gttgtaagag tggaattaac tgccctatcc aaaaagacaa
421 gacctatagc tacctgaata aactaccagt gaaaagcgaa tatccctcta taaaactggt
481 ggtggagtgg caacttcagg atgacaaaaa ccaaagtctc ttctgctggg aaatcccagt
541 acagatcgtt tctcatctct aagtgcctca ttgagttcgg tgcatctggc caatgagtct
601 gctgagactc ttgacagcac ctccagctct gctgcttcaa caacagtgac ttgctctcca
661 atggtatcca gtgattcgtt gaagaggagg tgctctgtag cagaaactga gctccgggtg
721 gctggttctc agtggttgtc tcatgtctct ttttctgtct taggtggttt cattaaatgc
781 agcacttggt tagcagatgt ttaatttttt ttttaacaac attaacttgt ggcctctttc
841 tacacctgga aatttactct tgaataaata aaaactcgtt tgtcttgtca aaaaaaaaaa
901 aaaaaaaaaa aaaaaaaaaa
//