Sequence in raw or FASTA format:
Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, mRNA.
| RefSeq Version | NM_001005742.2, 284807146 |
| Length | 2564 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens glucosidase, beta, acid (GBA), transcript variant 3, 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]. Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 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_001005742.1 |
| CDS | 407..2017 | Exon (1) | 1..357 | Exon (2) | 1..357 | Exon (3) | 358..433 | Exon (4) | 434..521 | Exon (5) | 522..713 | Exon (6) | 714..860 | Exon (7) | 861..994 | Exon (8) | 995..1167 | Exon (9) | 1168..1405 | Exon (10) | 1406..1630 | Exon (11) | 1631..1794 | Exon (12) | 1795..1911 | Exon (13) | 1912..2564 |
| Translation | MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT
YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF
GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD
FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP
GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA
RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK
ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK
NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
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| Position | Chain | Variation | Link |
| complement(3..4) | - | , ag | dbSNP:66487775 |
| 12..13 | + | , tc | dbSNP:3841430 |
| complement(181) | - | g, a | dbSNP:12034326 |
| 377 | + | c, g | dbSNP:1064638 |
| 385 | + | c, t | dbSNP:1064639 |
| complement(392) | - | t, c | dbSNP:41264927 |
| 393 | + | a, g | dbSNP:1064640 |
| 405 | + | g, t | dbSNP:1141801 |
| 450 | + | c, t | dbSNP:1141802 |
| 452 | + | a, g | dbSNP:1141804 |
| 487 | + | a, t | dbSNP:1059731 |
| 499..500 | + | , g | dbSNP:80356760 |
| 566 | + | g, t | dbSNP:121908302 |
| 595 | + | a, g | dbSNP:74953658 |
| 634 | + | g, t | dbSNP:75954905 |
| 643 | + | c, t | dbSNP:1141807 |
| 644 | + | a, g | dbSNP:1141808 |
| 646 | + | a, g | dbSNP:76337315 |
| 649 | + | c, t | dbSNP:1141810 |
| 651 | + | c, g, t | dbSNP:1141811 |
| 653 | + | a, c | dbSNP:1141812 |
| 660 | + | a, g | dbSNP:77829017 |
| 665 | + | c, t | dbSNP:1141814 |
| complement(666) | - | t, c | dbSNP:78769774 |
| complement(667) | - | g, a | dbSNP:78669556 |
| 681 | + | c, t | dbSNP:1141815 |
| 685 | + | a, g | dbSNP:1141816 |
| 701 | + | c, t | dbSNP:1141818 |
| 702 | + | a, g | dbSNP:1141820 |
| 706 | + | c, g | dbSNP:1141821 |
| complement(715) | - | , largedeletion | dbSNP:71702887 |
| 760 | + | c, g | dbSNP:121908312 |
| complement(793) | - | t, c | dbSNP:79175920 |
| 874 | + | a, g | dbSNP:77019233 |
| 879 | + | g, t | dbSNP:77834747 |
| 881 | + | c, t | dbSNP:439898 |
| 882 | + | a, g | dbSNP:79653797 |
| 883 | + | c, t | dbSNP:75249684 |
| 887 | + | c, t | dbSNP:121908299 |
| 888 | + | c, t | dbSNP:79637617 |
| complement(889) | - | g, a | dbSNP:79767521 |
| 892 | + | a, g | dbSNP:77959976 |
| 903 | + | a, t | dbSNP:79796061 |
| 915 | + | g, t | dbSNP:80356763 |
| complement(915) | - | c, a | dbSNP:75690705 |
| complement(916) | - | g, a | dbSNP:74572011 |
| complement(924) | - | g, a | dbSNP:78657146 |
| complement(925) | - | t, g | dbSNP:77191198 |
| complement(930) | - | t, g | dbSNP:79660787 |
| 992 | + | a, c | dbSNP:121908297 |
| 994 | + | a, c | dbSNP:78446355 |
| 999 | + | c, t | dbSNP:80222298 |
| 1000 | + | a, c | dbSNP:77916306 |
| 1005 | + | a, g, t | dbSNP:77933015 |
| 1008 | + | a, c | dbSNP:76500263 |
| complement(1045) | - | g, a | dbSNP:78659905 |
| complement(1057) | - | g, a | dbSNP:76717906 |
| complement(1068) | - | g, a | dbSNP:80205046 |
| complement(1069) | - | t, g | dbSNP:76727497 |
| complement(1073) | - | g, a | dbSNP:61748906 |
| complement(1078) | - | g, a | dbSNP:76682322 |
| 1086 | + | a, c, g, t | dbSNP:364897 |
| 1087 | + | g, t | dbSNP:381418 |
| 1089 | + | g, t | dbSNP:78911246 |
| 1092 | + | a, c | dbSNP:75636769 |
| complement(1093) | - | t, c | dbSNP:75370695 |
| 1095 | + | a, g, t | dbSNP:381427 |
| 1107 | + | a, g | dbSNP:74462743 |
| 1109 | + | c, t | dbSNP:1064644 |
| 1111 | + | c, t | dbSNP:76158190 |
| 1117 | + | a, g | dbSNP:74486098 |
| 1128 | + | a, g | dbSNP:77451368 |
| 1137 | + | a, g | dbSNP:76026102 |
| 1157 | + | c, t | dbSNP:121908300 |
| 1160 | + | a, t | dbSNP:381737 |
| 1162 | + | a, t | dbSNP:79945741 |
| 1169 | + | g, t | dbSNP:121908303 |
| 1170 | + | a, t | dbSNP:74500255 |
| 1215 | + | c, g | dbSNP:76725886 |
| 1276 | + | a, c | dbSNP:121908313 |
| complement(1293) | - | t, c | dbSNP:78973108 |
| complement(1317) | - | t, c | dbSNP:80116658 |
| complement(1320) | - | g, c | dbSNP:79215220 |
| 1327 | + | c, t | dbSNP:708610 |
| 1334 | + | a, g | dbSNP:1057942 |
| 1335 | + | a, g | dbSNP:74731340 |
| 1377 | + | a, g | dbSNP:79696831 |
| 1389 | + | c, t | dbSNP:121908298 |
| complement(1431) | - | t, a | dbSNP:77714449 |
| 1432 | + | a, g | dbSNP:1064646 |
| 1434 | + | a, g | dbSNP:77321207 |
| 1444 | + | c, t | dbSNP:1064647 |
| 1449 | + | c, t | dbSNP:78396650 |
| 1455 | + | a, g | dbSNP:78198234 |
| 1459 | + | g, t | dbSNP:121908304 |
| 1462 | + | c, t | dbSNP:79311125 |
| 1476 | + | a, c | dbSNP:78188205 |
| 1491 | + | a, c, g, t | dbSNP:76539814 |
| 1496 | + | a, g | dbSNP:121908305 |
| 1499 | + | a, g | dbSNP:2230288 |
| 1501 | + | a, g | dbSNP:80317710 |
| 1509 | + | a, g | dbSNP:1064648 |
| 1535 | + | a, g | dbSNP:80356765 |
| 1547 | + | g, t | dbSNP:121908306 |
| 1570 | + | a, g | dbSNP:75391747 |
| 1580 | + | c, g | dbSNP:121908308 |
| 1581 | + | a, g | dbSNP:11558184 |
| 1598 | + | c, t | dbSNP:121908309 |
| complement(1599) | - | t, c | dbSNP:74979486 |
| complement(1611) | - | t, c | dbSNP:76228122 |
| 1614 | + | c, g | dbSNP:121908307 |
| complement(1621) | - | t, c | dbSNP:75528494 |
| complement(1629) | - | g, a | dbSNP:75548401 |
| 1629 | + | c, t | dbSNP:2230289 |
| 1630 | + | a, g | dbSNP:1141826 |
| complement(1630) | - | , largedeletion | dbSNP:71804950 |
| complement(1632) | - | t, g, c | dbSNP:76763715 |
| 1634 | + | c, g | dbSNP:121908314 |
| complement(1636) | - | g, c | dbSNP:74498117 |
| 1652 | + | a, g | dbSNP:121908311 |
| complement(1654) | - | t, c | dbSNP:75034092 |
| complement(1657) | - | c, a | dbSNP:76014919 |
| complement(1662) | - | t, g | dbSNP:77284004 |
| complement(1663) | - | t, c | dbSNP:78715199 |
| 1669..1723 | + | dbSNP:80356768 | |
| complement(1669..1723) | - | , largedeletion | dbSNP:71771819 |
| complement(1684) | - | g, a | dbSNP:117957632 |
| complement(1695) | - | g, a | dbSNP:76910485 |
| complement(1698) | - | t, a | dbSNP:77738682 |
| 1703 | + | g, t | dbSNP:80356769 |
| complement(1710) | - | t, g | dbSNP:75385858 |
| 1713 | + | c, t | dbSNP:75243000 |
| 1715 | + | g, t | dbSNP:121908310 |
| 1717 | + | c, g, t | dbSNP:79032178 |
| complement(1720) | - | c, a | dbSNP:75090908 |
| 1725 | + | c, t | dbSNP:74598136 |
| 1728 | + | c, t | dbSNP:75564605 |
| 1748 | + | c, g | dbSNP:1064651 |
| 1749 | + | a, t | dbSNP:77369218 |
| 1750 | + | c, g | dbSNP:78802049 |
| 1756 | + | a, t | dbSNP:77035024 |
| 1759 | + | c, t | dbSNP:78346899 |
| 1767 | + | c, g | dbSNP:121908295 |
| 1771 | + | a, g | dbSNP:80020805 |
| 1774 | + | g, t | dbSNP:79185870 |
| 1776 | + | a, g | dbSNP:74752878 |
| 1798 | + | a, g | dbSNP:79226895 |
| complement(1819) | - | t, c | dbSNP:12747811 |
| complement(1850) | - | t, c | dbSNP:75671029 |
| 1854 | + | a, c, g, t | dbSNP:421016 |
| complement(1875) | - | t, c | dbSNP:76071730 |
| 1889 | + | c, g | dbSNP:368060 |
| 1903 | + | c, g | dbSNP:421050 |
| 1903 | + | c, g | dbSNP:1135675 |
| 1910 | + | c, t | dbSNP:80356771 |
| 1911 | + | a, g | dbSNP:80356772 |
| complement(1932) | - | g, a | dbSNP:113825752 |
| 1945 | + | g, t | dbSNP:77409925 |
| 1955 | + | a, g | dbSNP:121908301 |
| 1957 | + | a, g | dbSNP:77130994 |
| complement(1995) | - | g, a | dbSNP:78016673 |
| 2010 | + | a, g | dbSNP:80356773 |
| complement(2010) | - | t, c | dbSNP:75822236 |
| complement(2011) | - | g, a | dbSNP:78297361 |
| complement(2109) | - | t, c | dbSNP:708606 |
| complement(2119) | - | g, a | dbSNP:394757 |
| 2182 | + | c, t | dbSNP:1057944 |
| complement(2271..2272) | - | , a | dbSNP:5777943 |
| Gene Symbol | GBA |
| Gene Synonym | GBA1; GCB; GLUC |
| Chromosome | 1 |
| Locus Map | 1q21 |
| All Transcripts | NM_001005742 , NM_001005741 , NM_000157 , NM_001171811 , NM_001171812 |
| Title | Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease . |
| Author | Alfonso,P., Pampin,S., Garcia-Rodriguez,B., Tejedor,T., Dominguez,C., Rodriguez-Rey,J.C., Giraldo,P. and Pocovi,M. |
| Journal | Clin. Chim. Acta 412 (3-4), 365-369 (2011) |
| Title | Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa . |
| Author | Lesage,S., Condroyer,C., Hecham,N., Anheim,M., Belarbi,S., Lohman,E., Viallet,F., Pollak,P., Abada,M., Durr,A., Tazir,M. and Brice,A. |
| Journal | Neurology 76 (3), 301-303 (2011) |
| Title | X-ray and biochemical analysis of N370S mutant human acid beta-glucosidase . |
| Author | Wei,R.R., Hughes,H., Boucher,S., Bird,J.J., Guziewicz,N., Van Patten,S.M., Qiu,H., Pan,C.Q. and Edmunds,T. |
| Journal | J. Biol. Chem. 286 (1), 299-308 (2011) |
| Title | Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease . |
| Author | Lesage,S., Anheim,M., Condroyer,C., Pollak,P., Durif,F., Dupuits,C., Viallet,F., Lohmann,E., Corvol,J.C., Honore,A., Rivaud,S., Vidailhet,M., Durr,A. and Brice,A. |
| Journal | Hum. Mol. Genet. 20 (1), 202-210 (2011) |
| Title | Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S . |
| Author | Offman,M.N., Krol,M., Silman,I., Sussman,J.L. and Futerman,A.H. |
| Journal | J. Biol. Chem. 285 (53), 42105-42114 (2010) |
| 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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