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


RefSeq Accession Definition Services Price Order
NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. ORF Sequence $467.19
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RefSeq Version NM_000157.3, 284807148
Length 2324 bp
Structure linear
Update Date 29-APR-2013
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
Misc Feature(3)479..1774
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(57)-dbSNP:
complement(57)-c, adbSNP:1057927
complement(67)-t, adbSNP:1064637
complement(137)-g, cdbSNP:1064638
complement(152)-t, cdbSNP:41264927
complement(153)-g, adbSNP:1064640
complement(165)-t, gdbSNP:1141801
complement(180)-t, cdbSNP:201985614
complement(204)-dbSNP:
complement(204)-t, cdbSNP:150466109
complement(210)-t, cdbSNP:1141802
complement(212)-g, adbSNP:1141804
complement(215)-t, cdbSNP:139626710
complement(224)-t, cdbSNP:143187997
complement(247)-t, adbSNP:1059731
complement(248)-g, adbSNP:201330214
complement(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
complement(326)-t, gdbSNP:121908302
complement(334)-g, adbSNP:145773486
complement(351)-t, cdbSNP:145888253
complement(355)-g, adbSNP:74953658
complement(369)-g, cdbSNP:141061530
complement(382)-g, adbSNP:151093421
complement(394)-t, gdbSNP:75954905
complement(398)-g, adbSNP:146774384
complement(403)-t, cdbSNP:1141807
complement(404)-g, adbSNP:1141808
complement(406)-g, adbSNP:76337315
complement(409)-t, cdbSNP:1141810
complement(411)-t, g, cdbSNP:1141811
complement(413)-t, c, adbSNP:1141812
complement(420)-g, adbSNP:77829017
complement(423)-t, cdbSNP:144173415
complement(425)-t, cdbSNP:1141814
complement(426)-t, cdbSNP:78769774
complement(427)-g, adbSNP:78669556
complement(441)-t, cdbSNP:1141815
complement(445)-g, adbSNP:1141816
complement(461)-t, cdbSNP:1141818
complement(462)-g, adbSNP:1141820
complement(466)-g, cdbSNP:1141821
complement(520)-dbSNP:
complement(520)-g, cdbSNP:121908312
complement(553)-t, cdbSNP:79175920
complement(634)-dbSNP:
complement(634)-g, adbSNP:77019233
complement(639)-t, gdbSNP:77834747
complement(640)-g, adbSNP:147411159
complement(642)-g, adbSNP:79653797
complement(643)-t, cdbSNP:75249684
complement(647)-t, cdbSNP:121908299
complement(648)-t, cdbSNP:79637617
complement(649)-g, adbSNP:79767521
complement(652)-g, adbSNP:77959976
complement(663)-t, adbSNP:79796061
complement(675)-t, gdbSNP:80356763
complement(701)-g, cdbSNP:147138516
complement(752)-c, adbSNP:121908297
complement(796)-dbSNP:
complement(796)-g, adbSNP:201615998
complement(797)-t, cdbSNP:188760929
complement(805)-g, adbSNP:78659905
complement(817)-g, adbSNP:76717906
complement(828)-g, adbSNP:80205046
complement(829)-t, gdbSNP:76727497
complement(833)-g, adbSNP:61748906
complement(838)-g, adbSNP:76682322
complement(846)-g, adbSNP:364897
complement(847)-t, gdbSNP:381418
complement(849)-t, gdbSNP:78911246
complement(852)-c, adbSNP:75636769
complement(853)-t, cdbSNP:75370695
complement(855)-t, g, adbSNP:381427
complement(867)-g, adbSNP:74462743
complement(869)-t, cdbSNP:1064644
complement(871)-t, cdbSNP:76158190
complement(877)-g, adbSNP:74486098
complement(888)-g, adbSNP:77451368
complement(897)-g, adbSNP:76026102
complement(917)-t, cdbSNP:121908300
complement(920)-t, adbSNP:381737
complement(922)-t, adbSNP:79945741
complement(929)-dbSNP:
complement(929)-t, gdbSNP:121908303
complement(930)-t, adbSNP:74500255
complement(1008)-t, cdbSNP:138246400
complement(1036)-c, adbSNP:121908313
complement(1053)-t, cdbSNP:78973108
complement(1068)-t, cdbSNP:140955685
complement(1077)-t, cdbSNP:80116658
complement(1080)-g, cdbSNP:79215220
complement(1083)-g, adbSNP:199628072
complement(1095)-g, adbSNP:74731340
complement(1137)-g, adbSNP:79696831
complement(1149)-t, cdbSNP:121908298
complement(1153)-g, cdbSNP:142662866
complement(1191)-dbSNP:
complement(1191)-t, adbSNP:77714449
complement(1192)-g, adbSNP:1064646
complement(1194)-g, adbSNP:77321207
complement(1199)-g, adbSNP:181720335
complement(1204)-t, cdbSNP:1064647
complement(1209)-t, cdbSNP:78396650
complement(1215)-g, adbSNP:78198234
complement(1219)-t, gdbSNP:121908304
complement(1222)-t, cdbSNP:79311125
complement(1236)-c, adbSNP:78188205
complement(1251)-t, cdbSNP:76539814
complement(1256)-g, adbSNP:121908305
complement(1258)-t, cdbSNP:143222798
complement(1259)-g, adbSNP:2230288
complement(1261)-g, adbSNP:80317710
complement(1269)-g, adbSNP:1064648
complement(1295)-g, adbSNP:80356765
complement(1307)-t, gdbSNP:121908306
complement(1330)-g, adbSNP:75391747
complement(1340)-g, cdbSNP:121908308
complement(1341)-g, adbSNP:11558184
complement(1358)-t, cdbSNP:121908309
complement(1359)-t, cdbSNP:74979486
complement(1366)-t, cdbSNP:149487315
complement(1371)-t, cdbSNP:76228122
complement(1374)-g, cdbSNP:121908307
complement(1381)-t, cdbSNP:75528494
complement(1389)-g, adbSNP:75548401
complement(1390)-t, cdbSNP:138498426
complement(1392)-dbSNP:
complement(1392)-t, g, cdbSNP:76763715
complement(1394)-g, cdbSNP:121908314
complement(1396)-g, cdbSNP:74498117
complement(1412)-g, adbSNP:121908311
complement(1414)-t, cdbSNP: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(1458)-t, adbSNP:77738682
complement(1463)-t, gdbSNP:80356769
complement(1468)-g, adbSNP:149986463
complement(1470)-t, gdbSNP:75385858
complement(1473)-t, cdbSNP:75243000
complement(1475)-t, gdbSNP:121908310
complement(1477)-t, g, cdbSNP:79032178
complement(1480)-c, adbSNP:75090908
complement(1485)-t, cdbSNP:74598136
complement(1488)-t, cdbSNP:75564605
complement(1503)-t, gdbSNP:202221385
complement(1508)-g, cdbSNP:1064651
complement(1509)-t, adbSNP:77369218
complement(1510)-g, cdbSNP:78802049
complement(1516)-t, adbSNP:77035024
complement(1519)-t, cdbSNP:78346899
complement(1527)-g, cdbSNP:121908295
complement(1531)-g, adbSNP:80020805
complement(1534)-t, gdbSNP:79185870
complement(1536)-g, adbSNP:74752878
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(1614)-g, adbSNP:421016
complement(1621)-t, cdbSNP:199928507
complement(1635)-t, cdbSNP:76071730
complement(1639)-g, adbSNP:149257166
complement(1649)-g, cdbSNP:368060
complement(1663)-g, cdbSNP:421050
complement(1663)-g, cdbSNP:1135675
complement(1666)-t, cdbSNP:189380051
complement(1670)-t, cdbSNP:80356771
complement(1671)-g, adbSNP:80356772
complement(1677)-dbSNP:
complement(1677)-g, adbSNP:150246414
complement(1678)-g, adbSNP:141710041
complement(1715)-g, adbSNP:121908301
complement(1766)-g, adbSNP:146519305
complement(1770)-g, adbSNP:80356773
complement(1869)-t, cdbSNP:144123706
Gene SymbolGBA
Gene SynonymGBA1; GCB; GLUC
Chromosome1
Locus Map1q21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000157 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA. Full Length $673.96
ORF Sequence $467.19
NM_001005741 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 2, mRNA. Full Length $749.07
ORF Sequence $467.19
NM_001005742 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA. Full Length $743.56
ORF Sequence $467.19
NM_001171811 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 4, mRNA. Full Length $696.00
ORF Sequence $391.50
NM_001171812 Homo sapiens glucosidase, beta, acid (GBA), transcript variant 5, mRNA. Full Length $630.46
ORF Sequence $424.56
Title Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort .
Author Winder-Rhodes,S.E., Evans,J.R., Ban,M., Mason,S.L., Williams-Gray,C.H., Foltynie,T., Duran,R., Mencacci,N.E., Sawcer,S.J. and Barker,R.A.
Journal Brain 136 (PT 2), 392-399 (2013)
Title GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology .
Author Tsuang,D., Leverenz,J.B., Lopez,O.L., Hamilton,R.L., Bennett,D.A., Schneider,J.A., Buchman,A.S., Larson,E.B., Crane,P.K., Kaye,J.A., Kramer,P., Woltjer,R., Kukull,W., Nelson,P.T., Jicha,G.A., Neltner,J.H., Galasko,D., Masliah,E., Trojanowski,J.Q., Schellenberg,G.D., Yearout,D., Huston,H., Fritts-Penniman,A., Mata,I.F., Wan,J.Y., Edwards,K.L., Montine,T.J. and Zabetian,C.P.
Journal Neurology 79 (19), 1944-1950 (2012)
Title The link between the GBA gene and parkinsonism .
Author Sidransky,E. and Lopez,G.
Journal Lancet Neurol 11 (11), 986-998 (2012)
Title Analysis of the beta-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele .
Author Karaca,E., Kalkan,S., Onay,H., Aykut,A., Coker,M. and Ozkinay,F.
Journal J. Pediatr. Endocrinol. Metab. 25 (9-10), 957-962 (2012)
Title Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China .
Author Wang,Y., Liu,L., Xiong,J., Zhang,X., Chen,Z., Yu,L., Chen,C., Huang,J., Zhang,Z., Mohmed,A.A., Lin,Z., Xiong,N. and Wang,T.
Journal Behav Brain Funct 8, 57 (2012)
Title Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene .
Author Tybulewicz,V.L., Tremblay,M.L., LaMarca,M.E., Willemsen,R., Stubblefield,B.K., Winfield,S., Zablocka,B., Sidransky,E., Martin,B.M., Huang,S.P. et al.
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,T.E., Theophilus,B.D., Grabowski,G.A. and Smith,F.I.
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)
Title Sequence of two alleles responsible for Gaucher disease .
Author Hong,C.M., Ohashi,T., Yu,X.J., Weiler,S. and Barranger,J.A.
Journal DNA Cell Biol. 9 (4), 233-241 (1990)

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