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


RefSeq Accession Definition Services Price Order
NM_000153 Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. ORF Sequence $596.82
Peptide Services
Antibody Services
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RefSeq Version NM_000153.3, 319655715
Length 3897 bp
Structure linear
Update Date 21-APR-2013
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)234..2162
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(42)-dbSNP:
complement(42)-c, adbSNP:146439771
complement(149)-g, cdbSNP:112992946
complement(167)-g, adbSNP:188488238
complement(168)-g, cdbSNP:111887056
complement(182)-t, gdbSNP:111976362
complement(203)-c, adbSNP:113719127
complement(276)-t, gdbSNP:11623
complement(331)-dbSNP:
complement(331)-t, gdbSNP:78774548
complement(342)-g, adbSNP:73312829
complement(373)-dbSNP:
complement(373)-g, adbSNP:201422931
complement(437)-dbSNP:
complement(437)-t, cdbSNP:11552556
complement(441)-t, cdbSNP:147313927
complement(456)-t, cdbSNP:145580093
complement(486)-g, adbSNP:200532368
complement(504)-g, adbSNP:56194647
complement(632)-dbSNP:
complement(632)-g, adbSNP:181066089
complement(637)-t, gdbSNP:115869593
complement(657)-t, cdbSNP:1805078
complement(735)-dbSNP:
complement(735)-t, adbSNP:202131052
complement(766)-t, cdbSNP:199967869
complement(849)-t, cdbSNP:34362748
complement(853)-g, adbSNP:149743970
complement(964)-t, cdbSNP:199847983
complement(1020)-dbSNP:
complement(1020)-t, cdbSNP:74887188
complement(1063)-t, cdbSNP:183105855
complement(1091)-t, cdbSNP:12888666
complement(1104)-t, cdbSNP:190921137
complement(1113)-t, cdbSNP:185073540
complement(1149)-dbSNP:
complement(1149)-t, adbSNP:200516260
complement(1179)-g, adbSNP:74073730
complement(1216)-t, adbSNP:148638986
complement(1254)-t, cdbSNP:199723885
complement(1260)-t, gdbSNP:121908010
complement(1343)-t, adbSNP:112531377
complement(1358)-g, adbSNP:200605515
complement(1387)-dbSNP:
complement(1387)-t, cdbSNP:201591903
complement(1408)-g, adbSNP:199585731
complement(1409)-g, adbSNP:3213918
complement(1457)-dbSNP:
complement(1457)-g, adbSNP:398076
complement(1510)-g, cdbSNP:34134328
complement(1541)-t, cdbSNP:200231860
complement(1575)-t, adbSNP:202135871
complement(1680)-dbSNP:
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
complement(1739)-g, adbSNP:9672064
complement(1792)-dbSNP:
complement(1792)-g, adbSNP:398607
complement(1805)-t, adbSNP:421466
complement(1812)-t, cdbSNP:200019401
complement(1824)-t, cdbSNP:200219480
complement(1838)-g, adbSNP:201560122
complement(1859)-t, cdbSNP:201016488
complement(1895)-g, adbSNP:115018138
complement(1908)-t, cdbSNP:189385102
complement(1969)-dbSNP:
complement(1969)-t, cdbSNP:192911803
complement(2008)-g, adbSNP:138577661
complement(2028)-dbSNP:
complement(2028)-t, cdbSNP:421262
complement(2141)-g, adbSNP:183869279
complement(2146)-g, adbSNP:201596265
complement(2148)-t, cdbSNP:200607029
complement(2167)-t, adbSNP:12888640
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(2707)-t, cdbSNP:181244190
complement(2755)-t, cdbSNP:1042029
complement(2760)-g, cdbSNP:1042030
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(2943)-t, gdbSNP:149009218
complement(2966)-t, adbSNP:114174103
complement(3028)-t, gdbSNP:1803611
complement(3042)-c, adbSNP:185181747
complement(3148)-t, cdbSNP:116351733
complement(3154)-t, cdbSNP:370559
complement(3291)-g, adbSNP:1042035
complement(3351..3353)-, atcdbSNP:141199615
complement(3351)-g, adbSNP:200156630
complement(3352..3354)-, atcdbSNP:76512699
complement(3353)-, gatdbSNP:16415
complement(3440)-g, adbSNP:1042042
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(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 Sequence Price Select
NM_000153 Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. Full Length $1363.95
ORF Sequence $596.82
NM_001201401 Homo sapiens galactosylceramidase (GALC), transcript variant 3, mRNA. Full Length $1339.80
ORF Sequence $576.81
NM_001201402 Homo sapiens galactosylceramidase (GALC), transcript variant 4, mRNA. Full Length $1357.30
ORF Sequence $574.20
Title A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease .
Author Kardas,F., Uzak,A.S., Hossain,M.A., Sakai,N., Canpolat,M. and Yikilmaz,A.
Journal Gene 517 (1), 125-127 (2013)
Title Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation .
Author Fiumara,A., Barone,R., Arena,A., Filocamo,M., Lissens,W., Pavone,L. and Sorge,G.
Journal Clin. Genet. 80 (5), 452-458 (2011)
Title GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease .
Author Liu,Y., Gibson,J., Wheeler,J., Kwee,L.C., Santiago-Turla,C.M., Akafo,S.K., Lichter,P.R., Gaasterland,D.E., Moroi,S.E., Challa,P., Herndon,L.W., Girkin,C.A., Budenz,D.L., Richards,J.E., Allingham,R.R. and Hauser,M.A.
Journal PLoS ONE 6 (11), E27134 (2011)
Title Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease .
Author Tappino,B., Biancheri,R., Mort,M., Regis,S., Corsolini,F., Rossi,A., Stroppiano,M., Lualdi,S., Fiumara,A., Bembi,B., Di Rocco,M., Cooper,D.N. and Filocamo,M.
Journal Hum. Mutat. 31 (12), E1894-E1914 (2010)
Title Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones .
Author Lee,W.C., Kang,D., Causevic,E., Herdt,A.R., Eckman,E.A. and Eckman,C.B.
Journal J. Neurosci. 30 (16), 5489-5497 (2010)
Title Structure and organization of the human galactocerebrosidase (GALC) gene .
Author Luzi,P., Rafi,M.A. and Wenger,D.A.
Journal Genomics 26 (2), 407-409 (1995)
Title Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization .
Author Cannizzaro,L.A., Chen,Y.Q., Rafi,M.A. and Wenger,D.A.
Journal Cytogenet. Cell Genet. 66 (4), 244-245 (1994)
Title Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy .
Author Chen,Y.Q., Rafi,M.A., de Gala,G. and Wenger,D.A.
Journal Hum. Mol. Genet. 2 (11), 1841-1845 (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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