LOCUS BC000175 1602 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens Hermansky-Pudlak syndrome 1, mRNA (cDNA clone
IMAGE:2900987), complete cds.
ACCESSION BC000175
VERSION BC000175.2
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 1602)
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 1602)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (03-NOV-2000) 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 Feb 23, 2001 this sequence version replaced BC000175.1.
Contact: MGC help desk
Email: cgapbs-r@mail.nih.gov
Tissue Procurement: ATCC
cDNA Library Preparation: Life Technologies, Inc.
cDNA Library Arrayed by: The I.M.A.G.E. Consortium (LLNL)
DNA Sequencing by: Baylor College of Medicine Human Genome
Sequencing Center
Center code: BCM-HGSC
Web site: http://www.hgsc.bcm.tmc.edu/cdna/
Contact: amg@bcm.tmc.edu
Gunaratne, P.H., Garcia, A.M., Lu, X., Hulyk, S.W., Loulseged, H.,
Kowis, C.R., Sneed, A.J., Martin, R.G., Muzny, D.M., Nanavati,
A.N., Gibbs, R.A.
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: 3 Row: g Column: 21
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 33286413
This clone has the following problem: The cds is short compared to
the longest cds in the locus.
FEATURES Location/Qualifiers
source 1..1602
/db_xref="H-InvDB:HIT000029406"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="IMAGE:2900987"
/tissue_type="Placenta, choriocarcinoma"
/clone_lib="NIH_MGC_10"
/lab_host="DH10B"
/note="Vector: pCMV-SPORT6"
gene 1..1602
/gene="HPS1"
/gene_synonym="MGC5277"
/db_xref="GeneID:3257"
/db_xref="HGNC:HGNC:5163"
/db_xref="MIM:604982"
CDS 222..1196
/gene="HPS1"
/gene_synonym="MGC5277"
/codon_start=1
/product="Hermansky-Pudlak syndrome 1"
/protein_id="AAH00175.1"
/db_xref="GeneID:3257"
/db_xref="HGNC:HGNC:5163"
/db_xref="MIM:604982"
/translation="MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALE
DQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESE
GDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLR
EQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLL
AFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSP
HSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGEDRRKAGGNNS"
BASE COUNT 361 a 472 c 425 g 344 t
ORIGIN
1 gcggggcgct gtgcgcgccg cgatccggta cgtgggcctc cgggctgtcc cctctggggg
61 cggcgatcct ccctccggag ccccccttca accctcccgg aagtgagcat ttgcaggacc
121 agggatgctg tgctgctctc ccatgagcca gtcaccgagt cggtctgctg cagccctttc
181 tgaacctctg gccgtctgga tgctccactg tgcttgccaa gatgaagtgc gtcttggtgg
241 ccactgaggg cgcagaggtc ctcttctact ggacagatca ggagtttgaa gagagtctcc
301 ggctgaagtt cgggcagtca gagaatgagg aagaagagct ccctgccctg gaggaccagc
361 tcagcaccct cctagccccg gtcatcatct cctccatgac gatgctggag aagctctcgg
421 acacctacac ctgcttctcc acggaaaatg gcaacttcct gtatgtcctt cacctgtttg
481 gagaatgcct gttcattgcc atcaatggtg accacaccga gagcgagggg gacctgcggc
541 ggaagctgta tgtgctcaag tacctgtttg aagtgcactt tgggctggtg actgtggacg
601 gtcatcttat ccgaaaggag ctgcggcccc cagacctggc gcagcgtgtc cagctgtggg
661 agcacttcca gagcctgctg tggacctaca gccgcctgcg ggagcaggag cagtgcttcg
721 ccgtggaggc cctggagcga ctgattcacc cccagctctg tgagctgtgc atagaggcgc
781 tggagcggca cgtcatccag gctgtcaaca ccagccccga gcggggaggc gaggaggccc
841 tgcatgcctt cctgctcgtg cactccaagc tgctggcatt ctactctagc cacagtgcca
901 gctccctgcg cccggccgac ctgcttgccc tcatcctcct ggttcaggac ctctacccca
961 gcgagagcac agcagaggac gacattcagc cttccccgcg gagggcccgg agcagccaga
1021 acatccccgt gcagcaggcc tggagccctc actccacggg cccaactggg gggagctctg
1081 cagagacgga gacagacagc ttctccctcc ctgaggagta cttcacacca gctccttccc
1141 ctggcgatca gagttcaggt gaggaccgga ggaaagcagg aggaaacaat agctagctgc
1201 gagcgacagg cagcccagga catctgtctt aggctccagt ggacccccgt gcctcctaag
1261 gcttgagtgc aggtacccgt gttcctagag cacaggacgc tgtctgcggc tccccatctt
1321 ccctgccagc tccagcctga actcaaggat tgttaagacc actccactga tccctaaagc
1381 tgttgatgac aagttgattc atttaaaact tctgtacatg cattctcaga ctcatctttt
1441 ttgtaattaa aattaaaaat taagttaaat ttagtaataa tcatctaatt tctatacatt
1501 ctaaaatata ttcagcatct gtagtttata ctttgtttct ccaaagtatg tgggtaaaca
1561 ataaaaaaaa actataaata aaaaaaaaaa aaaaaaaaaa aa
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