LOCUS BC003356 2279 bp mRNA linear HUM 15-JUL-2006
DEFINITION Homo sapiens glucosidase, beta; acid (includes glucosylceramidase),
mRNA (cDNA clone MGC:5191 IMAGE:2899915), complete cds.
ACCESSION BC003356
VERSION BC003356.1
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 2279)
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 2279)
CONSRTM NIH MGC Project
TITLE Direct Submission
JOURNAL Submitted (20-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 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: 5
This clone was selected for full length sequencing because it
passed the following selection criteria: matched mRNA gi: 54607042.
FEATURES Location/Qualifiers
source 1..2279
/db_xref="H-InvDB:HIT000031511"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/clone="MGC:5191 IMAGE:2899915"
/tissue_type="Placenta, choriocarcinoma"
/clone_lib="NIH_MGC_10"
/lab_host="DH10B"
/note="Vector: pCMV-SPORT6"
gene 1..2279
/gene="GBA"
/gene_synonym="GBA1"
/gene_synonym="GCB"
/db_xref="GeneID:2629"
/db_xref="HGNC:HGNC:4177"
/db_xref="MIM:606463"
CDS 106..1716
/gene="GBA"
/gene_synonym="GBA1"
/gene_synonym="GCB"
/codon_start=1
/product="glucosidase, beta; acid (includes
glucosylceramidase)"
/protein_id="AAH03356.1"
/db_xref="GeneID:2629"
/db_xref="HGNC:HGNC:4177"
/db_xref="MIM:606463"
/translation="MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCI
PKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGT
GLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPW
TSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPS
AGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVV
LTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVR
LGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVP
LTIKDPAVGFLETISPGYSIHTYLWRRQ"
BASE COUNT 538 a 646 c 598 g 497 t
ORIGIN
1 agctaaggca ggtacctgca tccttgtttt tgtttagtgg atcctctatc cttcagagac
61 tctggaaccc ctgtggtctt ctcttcatct aatgaccctg aggggatgga gttttcaagt
121 ccttccagag aggaatgtcc caagcctttg agtagggtaa gcatcatggc tggcagcctc
181 acaggattgc ttctacttca ggcagtgtcg tgggcatcag gtgcccgccc ctgcatccct
241 aaaagcttcg gctacagctc ggtggtgtgt gtctgcaatg ccacatactg tgactccttt
301 gaccccccga cctttcctgc ccttggtacc ttcagccgct atgagagtac acgcagtggg
361 cgacggatgg agctgagtat ggggcccatc caggctaatc acacgggcac aggcctgcta
421 ctgaccctgc agccagaaca gaagttccag aaagtgaagg gatttggagg ggccatgaca
481 gatgctgctg ctctcaacat ccttgccctg tcaccccctg cccaaaattt gctacttaaa
541 tcgtacttct ctgaagaagg aatcggatat aacatcatcc gggtacccat ggccagctgt
601 gacttctcca tccgcaccta cacctatgca gacacccctg atgatttcca gttgcacaac
661 ttcagcctcc cagaggaaga taccaagctc aagatacccc tgattcaccg agccctgcag
721 ttggcccagc gtcccgtttc actccttgcc agcccctgga catcacccac ttggctcaag
781 accaatggag cggtgaatgg gaaggggtca ctcaagggac agcccggaga catctaccac
841 cagacctggg ccagatactt tgtgaagttc ctggatgcct atgctgagca caagttacag
901 ttctgggcag tgacagctga aaatgagcct tctgctgggc tgttgagtgg ataccccttc
961 cagtgcctgg gcttcacccc tgaacatcag cgagacttca ttgcccgtga cctaggtcct
1021 accctcgcca acagtactca ccacaatgtc cgcctactca tgctggatga ccaacgcttg
1081 ctgctgcccc actgggcaaa ggtggtactg acagacccag aagcagctaa atatgttcat
1141 ggcattgctg tacattggta cctggacttt ctggctccag ccaaagccac cctaggggag
1201 acacaccgcc tgttccccaa caccatgctc tttgcctcag aggcctgtgt gggctccaag
1261 ttctgggagc agagtgtgcg gctaggctcc tgggatcgag ggatgcagta cagccacagc
1321 atcatcacga acctcctgta ccatgtggtc ggctggaccg actggaacct tgccctgaac
1381 cccgaaggag gacccaattg ggtgcgtaac tttgtcgaca gtcccatcat tgtagacatc
1441 accaaggaca cgttttacaa acagcccatg ttctaccacc ttggccactt cagcaagttc
1501 attcctgagg gctcccagag agtggggctg gttgccagtc agaagaacga cctggacgca
1561 gtggcactga tgcatcccga tggctctgct gttgtggtcg tgctaaaccg ctcctctaag
1621 gatgtgcctc ttaccatcaa ggatcctgct gtgggcttcc tggagacaat ctcacctggc
1681 tactccattc acacctacct gtggcgtcgc cagtgatgga gcagatactc aaggaggcac
1741 tgggctcagc ctgggcatta aagggacaga gtcagctcac acgctgtctg tgactaaaga
1801 gggcacagca gggccagtgt gagcttacag cgacgtaagc ccaggggcaa tggtttgggt
1861 gactcacttt cccctctagg tggtgccagg ggctggaggc ccctagaaaa agatcagtaa
1921 gccccagtgt ccccccagcc cccatgctta tgtgaacatg cgctgtgtgc tgcttgcttt
1981 ggaaactggg cctgggtcca ggcctagggt gagctcactg tccgtacaaa cacaagatca
2041 gggctgaggg taaggaaaag aagagactag gaaagctggg cccaaaactg gagactgttt
2101 gtctttcctg gagatgcaga actgggcccg tggagcagca gtgtcagcat cagggcggaa
2161 gccttaaagc agcagcgggt gtgcccaggc acccagatga ttcctatggc accagccagg
2221 aaaaatggca gctcttaaag gagaaaatgt ttgagcccaa aaaaaaaaaa aaaaaaaaa
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