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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000153 Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

RefSeq Version NM_000153.3, 319655715
Length 3897 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.
Product galactocerebrosidase isoform a precursor
Comment

Summary: This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).


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_000144.2
CDS 108..2165
Misc Feature(1)225..2162
Misc Feature(2)<519..>1181
Exon (1)1..302
Gene:GALC
Gene Synonym:GALC
Exon (2)303..371
Gene:GALC
Gene Synonym:GALC
Exon (3)372..435
Gene:GALC
Gene Synonym:GALC
Exon (4)436..549
Gene:GALC
Gene Synonym:GALC
Exon (5)550..689
Gene:GALC
Gene Synonym:GALC
Exon (6)690..728
Gene:GALC
Gene Synonym:GALC
Exon (7)729..859
Gene:GALC
Gene Synonym:GALC
Exon (8)860..1015
Gene:GALC
Gene Synonym:GALC
Exon (9)1016..1140
Gene:GALC
Gene Synonym:GALC
Exon (10)1141..1268
Gene:GALC
Gene Synonym:GALC
Exon (11)1269..1358
Gene:GALC
Gene Synonym:GALC
Exon (12)1359..1445
Gene:GALC
Gene Synonym:GALC
Exon (13)1446..1596
Gene:GALC
Gene Synonym:GALC
Exon (14)1597..1777
Gene:GALC
Gene Synonym:GALC
Exon (15)1778..1941
Gene:GALC
Gene Synonym:GALC
Exon (16)1942..2018
Gene:GALC
Gene Synonym:GALC
Exon (17)2019..3883
Gene:GALC
Gene Synonym:GALC
Translation MAEWLLSASWQRRAKAMTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMHYA LDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVVTWIV GAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESISASMLLD AELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGY MTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQFTQPGWYYLKT VGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQFATFVLKGSFSEI PELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTLTTLTTGRKGSYPLP PKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPGEHHFTLRQVLNQRPIT WAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRVNKGGILIRSARGIFFWIF ANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPK NGWAAIGTHSFEFAQFDNFLVEATR
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Position Chain Variation Link
complement(40)-dbSNP:
complement(40)-g, adbSNP:369469562
complement(42)-c, adbSNP:146439771
complement(84)-g, adbSNP:370990058
complement(130)-g, adbSNP:376511103
complement(148)-g, cdbSNP:373587692
complement(149)-g, cdbSNP:112992946
complement(156)-t, cdbSNP:376662045
complement(167)-g, adbSNP:188488238
complement(168)-g, cdbSNP:111887056
complement(172)-t, cdbSNP:372285275
complement(182)-t, gdbSNP:111976362
complement(203)-c, adbSNP:113719127
228+a, gdbSNP:387906955
276+g, tdbSNP:11623
complement(313)-dbSNP:
complement(313)-t, cdbSNP:371523347
complement(331)-t, gdbSNP:78774548
complement(340)-t, cdbSNP:367958957
complement(342)-g, adbSNP:73312829
complement(343)-t, cdbSNP:370117160
complement(346)-g, cdbSNP:368689863
complement(365)-g, adbSNP:375382346
complement(373)-dbSNP:
complement(373)-g, adbSNP:201422931
complement(377)-t, adbSNP:377554388
complement(437)-dbSNP:
complement(437)-t, cdbSNP:11552556
complement(441)-t, cdbSNP:147313927
complement(456)-t, cdbSNP:145580093
complement(486)-g, adbSNP:200532368
complement(490)-g, cdbSNP:367604629
complement(495)-t, cdbSNP:374635469
complement(504)-g, adbSNP:56194647
complement(546)-t, cdbSNP:368584291
complement(548)-g, adbSNP:375877929
complement(555)-dbSNP:
complement(555)-g, adbSNP:372568602
complement(576)-t, gdbSNP:370222749
complement(586)-g, cdbSNP:376415427
complement(590)-g, adbSNP:373159695
complement(632)-g, adbSNP:181066089
complement(637)-t, gdbSNP:115869593
complement(657)-t, cdbSNP:1805078
complement(717)-t, gdbSNP:372406289
complement(735)-dbSNP:
complement(735)-t, adbSNP:202131052
complement(744)-g, cdbSNP:376441238
complement(746)-g, cdbSNP:373343608
complement(755)-t, gdbSNP:369575157
complement(766)-t, cdbSNP:199967869
complement(781)-g, cdbSNP:373077659
complement(849)-t, cdbSNP:34362748
complement(853)-g, adbSNP:149743970
complement(898)-t, cdbSNP:371830888
complement(935)-g, adbSNP:368679728
complement(957)-t, cdbSNP:377274761
complement(964)-t, cdbSNP:199847983
969+c, tdbSNP:398123177
complement(970)-t, cdbSNP:372621124
complement(1020)-dbSNP:
complement(1020)-t, cdbSNP:74887188
1060+c, gdbSNP:387906954
complement(1063)-t, cdbSNP:183105855
complement(1091)-t, cdbSNP:12888666
complement(1097)-t, cdbSNP:370211494
complement(1104)-t, cdbSNP:190921137
complement(1113)-t, cdbSNP:185073540
complement(1121)-t, cdbSNP:371096411
complement(1149)-dbSNP:
complement(1149)-t, adbSNP:200516260
complement(1179)-g, adbSNP:74073730
complement(1216)-t, adbSNP:148638986
complement(1217)-g, adbSNP:372793797
complement(1228)-t, gdbSNP:368860236
complement(1254)-t, cdbSNP:199723885
1260+g, tdbSNP:121908010
complement(1272)-dbSNP:
complement(1272)-g, cdbSNP:368284541
complement(1298)-t, cdbSNP:376181222
complement(1314)-t, cdbSNP:371724294
complement(1343)-t, adbSNP:112531377
complement(1358)-g, adbSNP:200605515
complement(1379)-dbSNP:
complement(1379)-t, cdbSNP:376675180
complement(1387)-t, cdbSNP:201591903
complement(1404)-t, gdbSNP:374105066
complement(1405)-g, adbSNP:370750373
complement(1408)-g, adbSNP:199585731
complement(1409)-g, adbSNP:3213918
complement(1442)-t, cdbSNP:373277798
complement(1457)-dbSNP:
complement(1457)-g, adbSNP:398076
complement(1481)-c, adbSNP:375620970
complement(1510)-g, cdbSNP:34134328
complement(1524)-g, adbSNP:369347167
complement(1525)-t, cdbSNP:374868151
complement(1541)-t, cdbSNP:200231860
complement(1575)-t, adbSNP:202135871
complement(1579)-t, cdbSNP:375581772
complement(1648)-dbSNP:
complement(1648)-g, adbSNP:375867319
complement(1674)-t, gdbSNP:370952794
complement(1680)-t, cdbSNP:146286491
complement(1693)-g, adbSNP:200960659
complement(1694)-t, cdbSNP:184748969
complement(1699)-t, cdbSNP:200378205
complement(1727)-t, cdbSNP:367327
complement(1736)-g, adbSNP:201055535
1737+a, gdbSNP:387906952
complement(1739)-g, adbSNP:9672064
complement(1792..1805)-dbSNP:
complement(1792..1805)-aacatcacactttg, tacatcacactttadbSNP:386779713
complement(1792)-g, adbSNP:398607
complement(1805)-t, adbSNP:421466
complement(1809)-t, cdbSNP:371792183
complement(1812)-t, cdbSNP:200019401
complement(1824)-t, cdbSNP:200219480
complement(1838)-g, adbSNP:201560122
complement(1859)-t, cdbSNP:201016488
complement(1867)-g, adbSNP:368818550
complement(1895)-g, adbSNP:115018138
1903+g, tdbSNP:387906953
complement(1908)-t, cdbSNP:189385102
complement(1910)-t, cdbSNP:372465848
complement(1963)-dbSNP:
complement(1963)-g, adbSNP:377167343
complement(1969)-t, cdbSNP:192911803
complement(2006)-t, cdbSNP:370259898
complement(2008)-g, adbSNP:138577661
complement(2027..2028)-dbSNP:
complement(2027..2028)-tg, cadbSNP:386779710
complement(2028)-t, cdbSNP:421262
complement(2087)-c, adbSNP:376099163
complement(2141)-g, adbSNP:183869279
complement(2146)-g, adbSNP:201596265
complement(2148)-t, cdbSNP:200607029
complement(2167)-t, adbSNP:12888640
complement(2177)-t, cdbSNP:372641636
complement(2179)-t, cdbSNP:143444570
complement(2184)-t, cdbSNP:116281628
complement(2500)-t, gdbSNP:115707123
complement(2560)-g, adbSNP:3850376
complement(2570)-t, cdbSNP:143839879
complement(2679)-t, cdbSNP:369876261
complement(2707)-t, cdbSNP:181244190
2755+c, tdbSNP:1042029
2760+c, gdbSNP:1042030
complement(2791..2792)-tg, cadbSNP:386779709
complement(2791)-g, adbSNP:432946
complement(2792)-t, cdbSNP:413750
complement(2874)-t, gdbSNP:45572135
complement(2888)-t, cdbSNP:412915
complement(2902)-g, adbSNP:188769920
complement(2938)-g, cdbSNP:375587703
complement(2943)-t, gdbSNP:149009218
complement(2966)-t, adbSNP:114174103
3028+g, tdbSNP:1803611
complement(3042)-c, adbSNP:185181747
complement(3148)-t, cdbSNP:116351733
complement(3154)-t, cdbSNP:370559
3291+a, gdbSNP:1042035
complement(3348)-g, cdbSNP:375388813
complement(3351..3353)-, atcdbSNP:141199615
complement(3351)-g, adbSNP:200156630
3440+a, gdbSNP:1042042
complement(3446)-g, adbSNP:374723542
complement(3609)-g, adbSNP:193250333
complement(3616)-t, gdbSNP:138919458
complement(3618)-t, cdbSNP:405567
complement(3631)-g, adbSNP:150250854
complement(3690)-g, adbSNP:200564085
complement(3743)-t, cdbSNP:374613387
complement(3753)-c, adbSNP:17198
complement(3790)-t, gdbSNP:188934153
complement(3829)-c, adbSNP:141332294
Gene SymbolGALC
Gene SynonymGALC
Chromosome14
Locus Map14q31
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001201402 Homo sapiens galactosylceramidase (GALC), transcript variant 4, mRNA. On-demand $849.00 20
NM_000153 Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. On-demand $849.00 20
NM_001201401 Homo sapiens galactosylceramidase (GALC), transcript variant 3, mRNA. On-demand $849.00 20
Title Structural snapshots illustrate the catalytic cycle of beta-galactocerebrosidase, the defective enzyme in Krabbe disease .
Author Hill CH, Graham SC, Read RJ and Deane JE.
Journal Proc. Natl. Acad. Sci. U.S.A. 110 (51), 20479-20484 (2013)
Title Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan .
Author Low SK, Chung S, Takahashi A, Zembutsu H, Mushiroda T, Kubo M and Nakamura Y.
Journal Cancer Sci. 104 (8), 1074-1082 (2013)
Title Four novel GALC gene mutations in two Chinese patients with Krabbe disease .
Author Yang Y, Ren X, Xu Q, Wang C, Liu H and He X.
Journal Gene 519 (2), 381-384 (2013)
Title A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease .
Author Kardas F, Uzak AS, Hossain MA, Sakai N, Canpolat M and Yikilmaz A.
Journal Gene 517 (1), 125-127 (2013)
Title [Structural basis for beta-galactosidase associated with lysosomal disease] .
Author Shimizu T.
Journal Yakugaku Zasshi 133 (5), 509-517 (2013)
Title Structure and organization of the human galactocerebrosidase (GALC) gene .
Author Luzi P, Rafi MA and Wenger DA.
Journal Genomics 26 (2), 407-409 (1995)
Title Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization .
Author Cannizzaro LA, Chen YQ, Rafi MA and Wenger DA.
Journal Cytogenet. Cell Genet. 66 (4), 244-245 (1994)
Title Krabbe Disease .
Author Wenger,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 Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease .
Author Kodama,S., Igisu,H., Siegel,D.A. and Suzuki,K.
Journal J. Neurochem. 39 (5), 1314-1318 (1982)
Title Hereditary leucodystrophy in the mouse: the new mutant twitcher .
Author Duchen,L.W., Eicher,E.M., Jacobs,J.M., Scaravilli,F. and Teixeira,F.
Journal Brain 103 (3), 695-710 (1980)

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