Sequence of AGAL_HUMAN
EC Number:3.2.1.22
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide + H2O = D-galactose + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
Other sequences found for EC No. 3.2.1.22
General information:
Sequence
0 MQLRNPELHL GCALALRFLA LVSWDIPGAR ALDNGLARTP TMGWLHWERF MCNLDCQEEP
60 DSCISEKLFM EMAELMVSEG WKDAGYEYLC IDDCWMAPQR DSEGRLQADP QRFPHGIRQL
120 ANYVHSKGLK LGIYADVGNK TCAGFPGSFG YYDIDAQTFA DWGVDLLKFD GCYCDSLENL
180 ADGYKHMSLA LNRTGRSIVY SCEWPLYMWP FQKPNYTEIR QYCNHWRNFA DIDDSWKSIK
240 SILDWTSFNQ ERIVDVAGPG GWNDPDMLVI GNFGLSWNQQ VTQMALWAIM AAPLFMSNDL
300 RHISPQAKAL LQDKDVIAIN QDPLGKQGYQ LRQGDNFEVW ERPLSGLAWA VAMINRQEIG
360 GPRSYTIAVA SLGKGVACNP ACFITQLLPV KRKLGFYEWT SRLRSHINPT GTVLLQLENT
420 MQMSLKDLL
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
766162
Tsuji S.,Martin B.M.,Kaslow D.C.,Migeon B.R.,Choudary P.V.,Stubblefield B.K.,Mayor J.A.,Murray G.J.,Barranger J.A.,Ginns E.I.
Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.
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1987
766163
Kornreich R.,Desnick R.J.,Bishop D.F.
Nucleotide sequence of the human alpha-galactosidase A gene.
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766164
Oeltjen J.C.,Liu X.,Lu J.,Allen R.C.,Muzny D.M.,Belmont J.W.,Gibbs R.A.
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The DNA sequence of the human X chromosome.
Nature
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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Quinn M.,Hantzopoulos P.,Fidanza V.,Calhoun D.H.
A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.
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1987
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Bishop D.F.,Kornreich R.,Desnick R.J.
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
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Novo F.J.,Kruszewski A.,McDermot K.D.,Goldspink G.,Gorecki D.C.
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1995
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Kase R.,Bierfreund U.,Klein A.,Kolter T.,Itoh K.,Suzuki M.,Hashimoto Y.,Sandhoff K.,Sakuraba H.
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Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.
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Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
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N-terminome analysis of the human mitochondrial proteome.
Proteomics
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2015
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The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
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2004
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Eng C.M.,Desnick R.J.
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Hum. Mutat.
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1994
766177
Koide T.,Ishiura M.,Iwai K.,Inoue M.,Kaneda Y.,Okada Y.,Uchida T.
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
FEBS Lett.
259
353-356
1990
766178
von Scheidt W.,Eng C.M.,Fitzmaurice T.F.,Erdmann E.,Hubner G.,Olsen E.G.J.,Christomanou H.,Kandolf R.,Bishop D.F.,Desnick R.J.
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
N. Engl. J. Med.
324
395-399
1991
766179
Sakuraba H.,Oshima A.,Fukuhara Y.,Shimmoto M.,Nagao Y.,Bishop D.F.,Desnick R.J.,Suzuki Y.
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
Am. J. Hum. Genet.
47
784-789
1990
766180
Bernstein H.S.,Bishop D.F.,Astrin K.H.,Kornreich R.,Eng C.M.,Sakuraba H.,Desnick R.J.
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
J. Clin. Invest.
83
1390-1399
1989
766181
Ishii S.,Sakuraba H.,Suzuki Y.
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Hum. Genet.
89
29-32
1992
766182
Eng C.M.,Resnick-Silverman L.A.,Niehaus D.J.,Astrin K.H.,Desnick R.J.
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Am. J. Hum. Genet.
53
1186-1197
1993
766183
Davies J.P.,Winchester B.G.,Malcolm S.
Mutation analysis in patients with the typical form of Anderson-Fabry disease.
Hum. Mol. Genet.
2
1051-1053
1993
766184
Davies J.P.,Christomanou H.,Winchester B.G.,Malcolm S.
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
Hum. Mol. Genet.
3
667-669
1994
766185
Eng C.M.,Niehaus D.J.,Enriquez A.L.,Burgert T.S.,Ludman M.D.,Desnick R.J.
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Hum. Mol. Genet.
3
1795-1799
1994
766186
Okumiya T.,Ishii S.,Takenaka T.,Kase R.,Kamei S.,Sakuraba H.,Suzuki Y.
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
Biochem. Biophys. Res. Commun.
214
1219-1224
1995
766187
Okumiya T.,Ishii S.,Kase R.,Kamei S.,Sakuraba H.,Suzuki Y.
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Hum. Genet.
95
557-561
1995
766188
Madsen K.M.,Hasholt L.,Soerensen S.A.,Lagerstroem Fermer M.,Dahl N.
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
Hum. Mutat.
5
277-278
1995
766189
Nakao S.,Takenaka T.,Maeda M.,Kodama C.,Tanaka A.,Tahara M.,Yoshida A.,Kuriyama M.,Hayashibe H.,Sakuraba H.,Tanaka H.
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
N. Engl. J. Med.
333
288-293
1995
766190
Sawada K.,Mizoguchi K.,Hishida A.,Kaneko E.,Koide Y.,Nishimura K.,Kimura M.
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Clin. Nephrol.
45
289-294
1996
766191
Davies J.P.,Eng C.M.,Hill J.A.,Malcolm S.,MacDermot K.,Winchester B.G.,Desnick R.J.
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Eur. J. Hum. Genet.
4
219-224
1996
766192
Cariolou M.A.,Christodoulides M.,Manoli P.,Kokkofitou A.,Tsambaos D.
Novel trinucleotide deletion in Fabry's disease.
Hum. Genet.
97
468-470
1996
766193
Germain D.P.,Biasotto M.,Tosi M.,Meo T.,Kahn A.,Poenaru L.
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.
Hum. Genet.
98
719-726
1996
766194
Blanch L.C.,Meaney C.,Morris C.P.
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Hum. Mutat.
8
38-43
1996
766195
Redonnet-Vernhet I.,Ploos van Amstel J.K.,Jansen R.P.M.,Wevers R.A.,Salvayre R.,Levade T.
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
J. Med. Genet.
33
682-688
1996
766196
Takata T.,Okumiya T.,Hayashibe H.,Shimmoto M.,Kase R.,Itoh K.,Utsumi K.,Kamei S.,Sakuraba H.
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
Brain Dev.
19
111-116
1997
766197
Eng C.M.,Ashley G.A.,Burgert T.S.,Enriquez A.L.,D'Souza M.,Desnick R.J.
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Mol. Med.
3
174-182
1997
766198
Chen C.-H.,Shyu P.-W.,Wu S.-J.,Sheu S.-S.,Desnick R.J.,Hsiao K.-J.
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.
Hum. Mutat.
11
328-330
1998
766199
Miyazaki T.,Kajita M.,Ohmori S.,Mizutani N.,Niwa T.,Murata Y.,Seo H.
A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Hum. Mutat. Suppl.
1
0-0
1998
766200
Okumiya T.,Kawamura O.,Itoh K.,Kase R.,Ishii S.,Kamei S.,Sakuraba H.
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Hum. Mutat. Suppl.
1
0-0
1998
766201
Guffon N.,Froissart R.,Chevalier-Porst F.,Maire I.
Mutation analysis in 11 French patients with Fabry disease.
Hum. Mutat. Suppl.
1
0-0
1998
766202
Germain D.P.,Poenaru L.
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Biochem. Biophys. Res. Commun.
257
708-713
1999
766203
Beyer E.M.,Karpova E.A.,Udalova O.V.,Ploos van Amstel J.K.,van Diggelen O.P.,Tsvetkova I.V.
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Clin. Chim. Acta
280
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1999
766204
Kase R.,Bierfreund U.,Klein A.,Kolter T.,Utsumi K.,Itoh K.,Sandhoff K.,Sakuraba H.
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Biochim. Biophys. Acta
1501
227-235
2000
766205
Topaloglu A.K.,Ashley G.A.,Tong B.,Shabbeer J.,Astrin K.H.,Eng C.M.,Desnick R.J.
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Mol. Med.
5
806-811
1999
766206
Lee J.-K.,Kim G.-H.,Kim J.-S.,Kim K.-K.,Lee M.-C.,Yoo H.-W.
Identification of four novel mutations in five unrelated Korean families with Fabry disease.
Clin. Genet.
58
228-233
2000
766207
Ashton-Prolla P.,Tong B.,Shabbeer J.,Astrin K.H.,Eng C.M.,Desnick R.J.
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
J. Invest. Med.
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2000
766208
Germain D.P.,Salard D.,Fellmann F.,Azibi K.,Caillaud C.,Bernard M.-C.,Poenaru L.
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Hum. Mutat.
17
353-353
2001
766209
Blaydon D.,Hill J.A.,Winchester B.G.
Fabry disease: 20 novel GLA mutations in 35 families.
Hum. Mutat.
18
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2001
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Branton M.H.,Schiffmann R.,Sabnis S.G.,Murray G.J.,Quirk J.M.,Altarescu G.,Goldfarb L.,Brady R.O.,Balow J.E.,Austin H.A. III,Kopp J.B.
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Medicine (Baltimore)
81
122-138
2002
766211
Yang C.-C.,Lai L.-W.,Whitehair O.,Hwu W.-L.,Chiang S.-C.,Lien Y.-H.H.
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Clin. Genet.
63
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2003
766212
Lai L.-W.,Whitehair O.,Wu M.-J.,O'Meara M.,Lien Y.-H.H.
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
Clin. Genet.
63
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2003
766213
Verovnik F.,Benko D.,Vujkovac B.,Linthorst G.E.
Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
Eur. J. Hum. Genet.
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2004
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Shabbeer J.,Robinson M.,Desnick R.J.
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Hum. Mutat.
25
299-305
2005
766215
Nance C.S.,Klein C.J.,Banikazemi M.,Dikman S.H.,Phelps R.G.,McArthur J.C.,Rodriguez M.,Desnick R.J.
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
Arch. Neurol.
63
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2006
766216
Hwu W.L.,Chien Y.H.,Lee N.C.,Chiang S.C.,Dobrovolny R.,Huang A.C.,Yeh H.Y.,Chao M.C.,Lin S.J.,Kitagawa T.,Desnick R.J.,Hsu L.W.
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Hum. Mutat.
30
1397-1405
2009
766217
Lukas J.,Scalia S.,Eichler S.,Pockrandt A.M.,Dehn N.,Cozma C.,Giese A.K.,Rolfs A.
Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease.
Hum. Mutat.
37
43-51
2016
766218
Ge W.,Wei B.,Zhu H.,Miao Z.,Zhang W.,Leng C.,Li J.,Zhang D.,Sun M.,Xu X.
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
Int. J. Neurosci.
2016
1-6
2016
766219
Lenders M.,Weidemann F.,Kurschat C.,Canaan-Kuehl S.,Duning T.,Stypmann J.,Schmitz B.,Reiermann S.,Kraemer J.,Blaschke D.,Wanner C.,Brand S.M.,Brand E.
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Orphanet J. Rare Dis.
11
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2016
