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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22331 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu22331C Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000157.3, 284807148
Length 1611 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.
Product glucosylceramidase isoform 1 precursor
Comment

Summary: This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010].


Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform 1.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000148.2
CDS 167..1777
Misc Feature(1)65..67
Misc Feature(2)284..1765
Exon (1)1..193
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (2)194..281
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (3)282..473
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (4)474..620
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (5)621..754
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (6)755..927
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (7)928..1165
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (8)1166..1390
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (9)1391..1554
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (10)1555..1671
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Exon (11)1672..2324
Gene:GBA
Gene Synonym:GBA1; GCB; GLUC
Translation MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
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Position Chain Variation Link
complement(22)-dbSNP:
complement(22)-t, cdbSNP:371157845
57+a, cdbSNP:1057927
67+a, tdbSNP:1064637
137+c, gdbSNP:1064638
complement(152)-t, cdbSNP:41264927
153+a, gdbSNP:1064640
165+g, tdbSNP:1141801
complement(180)-t, cdbSNP:201985614
complement(204)-dbSNP:
complement(204)-t, cdbSNP:150466109
complement(206)-g, adbSNP:371238435
210+c, tdbSNP:1141802
212+a, gdbSNP:1141804
complement(215)-t, cdbSNP:139626710
complement(222)-t, cdbSNP:376644484
complement(224)-t, cdbSNP:143187997
238+, cdbSNP:397518433
247+a, tdbSNP:1059731
complement(248)-g, adbSNP:201330214
250..251+, gdbSNP:387906315
259..260+, gdbSNP:80356760
complement(271)-t, cdbSNP:148001886
complement(282)-dbSNP:
complement(282)-t, cdbSNP:200378040
complement(287)-g, adbSNP:190207858
complement(302)-t, cdbSNP:142761046
complement(310)-g, adbSNP:185884197
326+g, tdbSNP:121908302
complement(334)-g, adbSNP:145773486
complement(351)-t, cdbSNP:145888253
complement(355)-t, g, c, adbSNP:74953658
complement(369)-g, cdbSNP:141061530
complement(382)-g, adbSNP:151093421
complement(387)-g, cdbSNP:371592589
complement(390)-t, gdbSNP:373363286
complement(394)-t, g, c, adbSNP:75954905
complement(397)-t, gdbSNP:368786234
complement(398)-g, adbSNP:146774384
403..404+a, c, g, tdbSNP:1141807
complement(406)-g, adbSNP:76337315
complement(406)-g, adbSNP:386626592
409+c, tdbSNP:1141810
complement(411)-t, g, cdbSNP:1141811
complement(411)-t, cdbSNP:386626581
413+a, c, tdbSNP:1141812
complement(420)-g, adbSNP:386626582
complement(423)-t, cdbSNP:144173415
425+c, tdbSNP:1141814
complement(426)-t, cdbSNP:78769774
complement(427)-g, adbSNP:78669556
441+c, tdbSNP:1141815
445+a, gdbSNP:1141816
461+c, tdbSNP:1141818
462+a, gdbSNP:1141820
466+c, gdbSNP:1141821
complement(488)-dbSNP:
complement(488)-g, adbSNP:368145008
520+c, gdbSNP:121908312
complement(553)-t, cdbSNP:79175920
complement(588)-t, cdbSNP:374003673
complement(634)-dbSNP:
complement(634)-g, adbSNP:77019233
complement(639)-t, gdbSNP:77834747
complement(640)-g, adbSNP:147411159
641+c, tdbSNP:397515515
complement(643)-t, cdbSNP:75249684
647+c, tdbSNP:121908299
complement(648)-t, cdbSNP:79637617
complement(648)-t, cdbSNP:386626597
complement(649)-g, adbSNP:79767521
complement(650)-t, cdbSNP:377325220
complement(652)-g, adbSNP:77959976
653+, gdbSNP:398123529
663+a, tdbSNP:79796061
674+c, tdbSNP:398123530
complement(675)-c, adbSNP:75690705
complement(675)-c, adbSNP:386626593
complement(676)-g, adbSNP:74572011
complement(684)-g, adbSNP:78657146
complement(684)-g, adbSNP:386626603
complement(685)-t, gdbSNP:77191198
complement(690)-t, gdbSNP:79660787
698+, cdbSNP:397518434
complement(701)-g, cdbSNP:147138516
complement(711)-t, cdbSNP:375193074
752+a, cdbSNP:121908297
complement(754)-c, adbSNP:78446355
complement(759)-dbSNP:
complement(759)-t, cdbSNP:80222298
complement(760)-c, adbSNP:77916306
complement(765)-t, g, adbSNP:77933015
complement(768)-c, adbSNP:76500263
771+a, gdbSNP:398123531
791+c, tdbSNP:398123532
complement(796)-g, adbSNP:201615998
complement(797)-t, cdbSNP:188760929
800+a, tdbSNP:398123533
complement(803)-g, adbSNP:374591570
complement(805)-g, adbSNP:78659905
complement(805)-g, adbSNP:386626598
complement(817)-g, adbSNP:76717906
complement(828)-g, adbSNP:80205046
complement(828)-g, adbSNP:386626604
complement(829)-t, gdbSNP:76727497
complement(833)-g, adbSNP:61748906
complement(838)-g, adbSNP:76682322
complement(838)-g, adbSNP:386626599
847+g, tdbSNP:381418
complement(849)-t, gdbSNP:78911246
complement(852)-c, adbSNP:75636769
complement(853)-t, cdbSNP:75370695
complement(855)-t, g, adbSNP:381427
complement(862)-t, cdbSNP:375731497
complement(867)-g, adbSNP:74462743
complement(867)-g, adbSNP:386626583
869+c, tdbSNP:1064644
complement(871)-t, cdbSNP:76158190
complement(874)-g, adbSNP:372785813
877+a, gdbSNP:74486098
complement(886)-g, adbSNP:376613535
887+a, gdbSNP:398123534
complement(888)-g, adbSNP:77451368
complement(897)-g, adbSNP:76026102
917+c, tdbSNP:121908300
920+a, tdbSNP:381737
complement(922)-t, adbSNP:79945741
929+dbSNP:
929+g, tdbSNP:121908303
complement(975)-g, cdbSNP:76725886
complement(1003)-c, adbSNP:371576958
complement(1008)-t, cdbSNP:138246400
1036+a, cdbSNP:121908313
complement(1048)-c, adbSNP:367968666
complement(1053)-t, cdbSNP:78973108
complement(1067)-g, adbSNP:374117599
complement(1068)-t, cdbSNP:140955685
complement(1077)-t, cdbSNP:80116658
complement(1080)-g, cdbSNP:79215220
complement(1083)-g, adbSNP:199628072
complement(1084)-g, adbSNP:371856161
complement(1088)-t, cdbSNP:368425393
complement(1095)-g, adbSNP:74731340
complement(1137)-g, adbSNP:79696831
1149+c, tdbSNP:121908298
complement(1153)-g, cdbSNP:142662866
1154+g, tdbSNP:398123535
complement(1178)-dbSNP:
complement(1178)-g, cdbSNP:374463271
complement(1191)-t, adbSNP:77714449
1192+a, gdbSNP:1064646
complement(1194)-g, adbSNP:77321207
complement(1194)-g, adbSNP:386626594
complement(1199)-g, adbSNP:181720335
1204+c, tdbSNP:1064647
complement(1209)-t, cdbSNP:386626584
complement(1211)-t, cdbSNP:371083513
1219+g, tdbSNP:121908304
complement(1222)-t, cdbSNP:79311125
1226+c, gdbSNP:398123526
complement(1236)-c, adbSNP:78188205
1256+a, gdbSNP:121908305
complement(1258)-t, cdbSNP:143222798
complement(1261)-g, adbSNP:80317710
complement(1268)-g, adbSNP:374306700
1269+a, gdbSNP:1064648
1295+a, gdbSNP:80356765
1307+g, tdbSNP:121908306
complement(1330)-g, adbSNP:75391747
complement(1330)-g, adbSNP:386626600
1337+c, gdbSNP:398123527
1340+c, gdbSNP:121908308
1341+a, gdbSNP:11558184
1358+c, tdbSNP:121908309
complement(1359)-t, cdbSNP:74979486
complement(1359)-t, cdbSNP:386626585
complement(1366)-t, cdbSNP:149487315
complement(1371)-t, cdbSNP:76228122
complement(1371)-t, cdbSNP:386626601
1374+c, gdbSNP:121908307
complement(1381)-t, cdbSNP:75528494
complement(1389)-g, adbSNP:75548401
complement(1389)-g, adbSNP:386626586
complement(1390)-t, cdbSNP:138498426
complement(1392)-dbSNP:
complement(1392)-t, g, cdbSNP:76763715
1394+c, gdbSNP:121908314
complement(1396)-g, cdbSNP:74498117
1406+g, tdbSNP:398123528
1412+a, gdbSNP:121908311
complement(1414)-t, g, c, adbSNP:75034092
complement(1417)-c, adbSNP:76014919
complement(1422)-t, gdbSNP:77284004
complement(1423)-t, cdbSNP:78715199
1429..1483+dbSNP:80356768
complement(1430)-t, gdbSNP:187143994
complement(1444)-g, adbSNP:201499639
complement(1445)-t, cdbSNP:149171124
complement(1455)-g, adbSNP:76910485
complement(1455)-g, adbSNP:386626587
complement(1458)-t, adbSNP:77738682
1463+g, tdbSNP:80356769
complement(1470)-t, gdbSNP:75385858
complement(1470)-t, gdbSNP:386626588
complement(1473)-t, cdbSNP:75243000
1475+g, tdbSNP:121908310
complement(1477)-t, g, cdbSNP:79032178
complement(1480)-g, c, adbSNP:75090908
complement(1488)-t, cdbSNP:75564605
complement(1503)-t, gdbSNP:202221385
1508+c, gdbSNP:1064651
complement(1510)-g, cdbSNP:78802049
complement(1516)-t, adbSNP:77035024
complement(1519)-t, cdbSNP:78346899
complement(1519)-t, cdbSNP:386626589
1527+c, gdbSNP:121908295
complement(1531)-g, adbSNP:80020805
complement(1531)-g, adbSNP:386626602
complement(1534)-t, gdbSNP:79185870
complement(1536)-g, adbSNP:74752878
complement(1536)-g, adbSNP:386626590
complement(1558)-dbSNP:
complement(1558)-g, adbSNP:79226895
complement(1566)-, gdbSNP:144322275
complement(1579)-t, cdbSNP:12747811
complement(1602)-t, gdbSNP:144389406
complement(1610)-t, cdbSNP:75671029
complement(1613)-g, adbSNP:369966551
complement(1614)-g, adbSNP:421016
complement(1621)-t, cdbSNP:199928507
complement(1635)-t, cdbSNP:76071730
complement(1635)-t, cdbSNP:386626605
complement(1639)-g, adbSNP:149257166
complement(1651)-g, adbSNP:375973565
complement(1660)-g, adbSNP:371779859
complement(1661)-g, cdbSNP:369068553
1663+c, gdbSNP:1135675
complement(1666)-t, cdbSNP:189380051
1670+c, tdbSNP:80356771
1671+a, gdbSNP:80356772
complement(1677)-dbSNP:
complement(1677)-g, adbSNP:150246414
complement(1678)-g, adbSNP:141710041
complement(1685)-t, cdbSNP:370349398
1715+a, gdbSNP:121908301
complement(1755)-g, adbSNP:78016673
complement(1766)-g, adbSNP:146519305
complement(1771)-g, adbSNP:78297361
complement(1806)-g, adbSNP:375147122
complement(1869)-t, cdbSNP:144123706
complement(1879)-g, adbSNP:368275143
complement(1942)-g, adbSNP:375776699
Gene SymbolGBA
Gene SynonymGBA1; GCB; GLUC
Chromosome1
Locus Map1q21
Title Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones .
Author Yang C, Swallows CL, Zhang C, Lu J, Xiao H, Brady RO and Zhuang Z.
Journal Proc. Natl. Acad. Sci. U.S.A. 111 (1), 249-254 (2014)
Title Saposin C protects glucocerebrosidase against alpha-synuclein inhibition .
Author Yap TL, Gruschus JM, Velayati A, Sidransky E and Lee JC.
Journal Biochemistry 52 (41), 7161-7163 (2013)
Title A common and two novel GBA mutations in Thai patients with Gaucher disease .
Author Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K and Shotelersuk V.
Journal J. Hum. Genet. 58 (9), 594-599 (2013)
Title Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye .
Author Suzuki T, Shimoda M, Ito K, Hanai S, Aizawa H, Kato T, Kawasaki K, Yamaguchi T, Ryoo HD, Goto-Inoue N, Setou M, Tsuji S and Ishida N.
Journal PLoS ONE 8 (8), E69147 (2013)
Title Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations .
Author Chahine LM, Qiang J, Ashbridge E, Minger J, Yearout D, Horn S, Colcher A, Hurtig HI, Lee VM, Van Deerlin VM, Leverenz JB, Siderowf AD, Trojanowski JQ, Zabetian CP and Chen-Plotkin A.
Journal JAMA Neurol 70 (7), 852-858 (2013)
Title Gaucher Disease .
Author Pastores,G.M. and Hughes,D.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene .
Author Tybulewicz VL, Tremblay ML, LaMarca ME, Willemsen R, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM and Huang SP.
Journal Nature 357 (6377), 407-410 (1992)
Title Polymorphisms in the human glucocerebrosidase gene .
Author Beutler E, West C and Gelbart T.
Journal Genomics 12 (4), 795-800 (1992)
Title Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients .
Author Latham TE, Theophilus BD, Grabowski GA and Smith FI.
Journal DNA Cell Biol. 10 (1), 15-21 (1991)
Title High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease .
Author Sorge J, Gross E, West C and Beutler E.
Journal J. Clin. Invest. 86 (4), 1137-1141 (1990)

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