Sequence of LYAG_HUMAN
EC Number:3.2.1.20
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
maltotetraose + 3 H2O = 4 alpha-D-glucose
Other sequences found for EC No. 3.2.1.20
General information:
Sequence
0 MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE ETHPAHQQGA
60 SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ EQCEARGCCY IPAKQGLQGA
120 QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA TLTRTTPTFF PKDILTLRLD VMMETENRLH
180 FTIKDPANRR YEVPLETPHV HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF
240 FADQFLQLST SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
300 LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV VQQYLDVVGY
360 PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV QWNDLDYMDS RRDFTFNKDG
420 FRDFPAMVQE LHQGGRRYMM IVDPAISSSG PAGSYRPYDE GLRRGVFITN ETGQPLIGKV
480 WPGSTAFPDF TNPTALAWWE DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN
540 PPYVPGVVGG TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
600 STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL GNTSEELCVR
660 WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT LRYALLPHLY TLFHQAHVAG
720 ETVARPLFLE FPKDSSTWTV DHQLLWGEAL LITPVLQAGK AEVTGYFPLG TWYDLQTVPV
780 EALGSLPPPP AAPREPAIHS EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP
840 MALAVALTKG GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
900 LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS WC
Download this sequence
in fasta formatDownload all sequences for 3.2.1.20
in fasta format
in csv (Excel, OpenOffice) formatSequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
314995
Hoefsloot L.H.,Hoogeveen-Westerveld M.,Kroos M.A.,van Beeumen J.,Reuser A.J.J.,Oostra B.A.
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
EMBO J.
7
1697-1704
1988
314997
Hoefsloot L.H.,Hoogeveen-Westerveld M.,Reuser A.J.J.,Oostra B.A.
Characterization of the human lysosomal alpha-glucosidase gene.
Biochem. J.
272
493-497
1990
314998
Martiniuk F.,Mehler M.,Tzall S.,Meredith G.,Hirschhorn R.
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
DNA Cell Biol.
9
85-94
1990
315000
Zody M.C.,Garber M.,Adams D.J.,Sharpe T.,Harrow J.,Lupski J.R.,Nicholson C.,Searle S.M.,Wilming L.,Young S.K.,Abouelleil A.,Allen N.R.,Bi W.,Bloom T.,Borowsky M.L.,Bugalter B.E.,Butler J.,Chang J.L.,Chen C.-K.,Cook A.,Corum B.,Cuomo C.A.,de Jong P.J.,DeCaprio D.,Dewar K.,FitzGerald M.,Gilbert J.,Gibson R.,Gnerre S.,Goldstein S.,Grafham D.V.,Grocock R.,Hafez N.,Hagopian D.S.,Hart E.,Norman C.H.,Humphray S.,Jaffe D.B.,Jones M.,Kamal M.,Khodiyar V.K.,LaButti K.,Laird G.,Lehoczky J.,Liu X.,Lokyitsang T.,Loveland J.,Lui A.,Macdonald P.,Major J.E.,Matthews L.,Mauceli E.,McCarroll S.A.,Mihalev A.H.,Mudge J.,Nguyen C.,Nicol R.,O'Leary S.B.,Osoegawa K.,Schwartz D.C.,Shaw-Smith C.,Stankiewicz P.,Steward C.,Swarbreck D.,Venkataraman V.,Whittaker C.A.,Yang X.,Zimmer A.R.,Bradley A.,Hubbard T.,Birren B.W.,Rogers J.,Lander E.S.,Nusbaum C.
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
Nature
440
1045-1049
2006
315001
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
315002
Lin C.-Y.,Shieh J.-J.
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
Biochem. Biophys. Res. Commun.
208
886-893
1995
315003
Hermans M.M.P.,Kroos M.A.,van Beeumen J.,Oostra B.A.,Reuser A.J.J.
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
J. Biol. Chem.
266
13507-13512
1991
315004
Hermans M.M.P.,Wisselaar H.A.,Kroos M.A.,Oostra B.A.,Reuser A.J.J.
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
Biochem. J.
289
681-686
1993
315005
Zhang H.,Li X.-J.,Martin D.B.,Aebersold R.
Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
Nat. Biotechnol.
21
660-666
2003
315006
Reuser A.J.J.,Kroos M.A.,Hermans M.M.P.,Bijvoet A.G.A.,Verbeet M.P.,van Diggelen O.P.,Kleijer W.J.,van der Ploeg A.T.
Glycogenosis type II (acid maltase deficiency).
Muscle Nerve
3
0-0
1995
315007
Liu T.,Qian W.-J.,Gritsenko M.A.,Camp D.G. II,Monroe M.E.,Moore R.J.,Smith R.D.
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
J. Proteome Res.
4
2070-2080
2005
315008
Schroeder B.,Wrocklage C.,Pan C.,Jaeger R.,Koesters B.,Schaefer H.,Elsaesser H.-P.,Mann M.,Hasilik A.
Integral and associated lysosomal membrane proteins.
Traffic
8
1676-1686
2007
315009
Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
J. Proteome Res.
8
651-661
2009
315010
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
315011
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
315012
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
315014
Roig-Zamboni V.,Cobucci-Ponzano B.,Iacono R.,Ferrara M.C.,Germany S.,Bourne Y.,Parenti G.,Moracci M.,Sulzenbacher G.
Structure of human lysosomal acid alpha-glucosidase-a guide for the treatment of Pompe disease.
Nat. Commun.
8
1111-1111
2017
315015
Martiniuk F.,Bodkin M.,Tzall S.,Hirschhorn R.
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower 'affinity' for glycogen (GAA 2) and transient gene expression in deficient cells.
Am. J. Hum. Genet.
47
440-445
1990
315016
Zhong N.,Martiniuk F.,Tzall S.,Hirschhorn R.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Am. J. Hum. Genet.
49
635-645
1991
315017
Hermans M.M.P.,de Graaff E.,Kroos M.A.,Wisselaar H.A.,Oostra B.A.,Reuser A.J.J.
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
Biochem. Biophys. Res. Commun.
179
919-926
1991
315018
Hermans M.M.P.,Kroos M.A.,de Graaff E.,Oostra B.A.,Reuser A.J.J.
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
Hum. Mutat.
2
268-273
1993
315019
Hermans M.M.P.,de Graaff E.,Kroos M.A.,Wisselaar H.A.,Willemsen R.,Oostra B.A.,Reuser A.J.J.
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
Biochem. J.
289
687-693
1993
315020
Martiniuk F.,Mehler M.,Bodkin M.,Tzall S.,Hirschhorn K.,Zhong N.,Hirschhorn R.
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
DNA Cell Biol.
10
681-687
1991
315021
Hermans M.M.P.,Svetkey L.P.,Oostra B.A.,Chen Y.T.,Reuser A.J.J.
The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
Genomics
16
300-301
1993
315022
Huie M.L.,Hirschhorn R.,Chen A.S.,Martiniuk F.,Zhong N.
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Hum. Mutat.
4
291-293
1994
315023
Huie M.L.,Chen A.S.,Brooks S.S.,Grix A.,Hirschhorn R.
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
Hum. Mol. Genet.
3
1081-1087
1994
315024
Hermans M.M.P.,de Graaff E.,Kroos M.A.,Mohkamsing S.,Eussen B.J.,Joosse M.,Willemsen R.,Kleijer W.J.,Oostra B.A.,Reuser A.J.J.
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
Hum. Mol. Genet.
3
2213-2218
1994
315025
Boerkoel C.F.,Exelbert R.,Nicastri C.,Nichols R.C.,Miller F.W.,Plotz P.H.,Raben N.
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
Am. J. Hum. Genet.
56
887-897
1995
315026
Huie M.L.,Menaker M.,McAlpine P.J.,Hirschhorn R.
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
Ann. Hum. Genet.
60
365-368
1996
315027
Tsunoda H.,Ohshima T.,Tohyama J.,Sasaki M.,Sakuragawa N.,Martiniuk F.
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
Hum. Genet.
97
496-499
1996
315028
Huie M.L.,Tsujino S.,Brooks S.S.,Engel A.,Elias E.,Bonthron D.T.,Bessley C.,Shanske S.,Dimauro S.,Goto Y.,Hirschhorn R.
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Biochem. Biophys. Res. Commun.
244
921-927
1998
315029
Kroos M.A.,van Leenen D.,Verbiest J.,Reuser A.J.J.,Hermans M.M.P.
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
Clin. Genet.
53
379-382
1998
315030
Hermans M.M.P.,Kroos M.A.,Smeitink J.A.M.,van der Ploeg A.T.,Kleijer W.J.,Reuser A.J.J.
Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
Hum. Mutat.
11
209-215
1998
315031
Beesley C.E.,Child A.H.,Yacoub M.Y.
The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II.
Hum. Mutat.
11
413-413
1998
315032
Vorgerd M.,Burwinkel B.,Reichmann H.,Malin J.-P.,Kilimann M.W.
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Neurogenetics
1
205-211
1998
315033
Raben N.,Lee E.,Lee L.,Hirschhorn R.,Plotz P.H.
Novel mutations in African American patients with glycogen storage disease Type II.
Hum. Mutat.
13
83-84
1999
315034
Ko T.-M.,Hwu W.-L.,Lin Y.-W.,Tseng L.-H.,Hwa H.-L.,Wang T.-R.,Chuang S.-M.
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Hum. Mutat.
13
380-384
1999
315035
Laforet P.,Nicolino M.,Eymard P.B.,Puech J.P.,Caillaud C.,Poenaru L.,Fardeau M.
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Neurology
55
1122-1128
2000
315036
Fernandez-Hojas R.,Huie M.L.,Navarro C.,Dominguez C.,Roig M.,Lopez-Coronas D.,Teijeira S.,Anyane-Yeboa K.,Hirschhorn R.
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Neuromuscul. Disord.
12
159-166
2002
315037
Pittis M.G.,Montalvo A.L.,Miocic S.,Martini C.,Deganuto M.,Candusso M.,Ciana G.,Bembi B.
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Am. J. Med. Genet. A
121
225-230
2003
315038
Lam C.W.,Yuen Y.P.,Chan K.Y.,Tong S.F.,Lai C.K.,Chow T.C.,Lee K.C.,Chan Y.W.,Martiniuk F.
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Neurology
60
715-717
2003
315039
Pipo J.R.,Feng J.-H.,Yamamoto T.,Ohsaki Y.,Nanba E.,Tsujino S.,Sakuragawa N.,Martiniuk F.,Ninomiya H.,Oka A.,Ohno K.
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pediatr. Neurol.
29
284-287
2003
315040
Hermans M.M.P.,van Leenen D.,Kroos M.A.,Beesley C.E.,Van der Ploeg A.T.,Sakuraba H.,Wevers R.,Kleijer W.J.,Michelakakis H.,Kirk E.P.,Fletcher J.,Bosshard N.,Basel-Vanagaite L.,Besley G.,Reuser A.J.J.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hum. Mutat.
23
47-56
2004
315041
Montalvo A.L.E.,Cariati R.,Deganuto M.,Guerci V.,Garcia R.,Ciana G.,Bembi B.,Pittis M.G.
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Mol. Genet. Metab.
81
203-208
2004
315042
Kroos M.A.,Kirschner J.,Gellerich F.N.,Hermans M.M.,Van der Ploeg A.T.,Reuser A.J.,Korinthenberg R.
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Neuromuscul. Disord.
14
371-374
2004
315043
Anneser J.M.,Pongratz D.E.,Podskarbi T.,Shin Y.S.,Schoser B.G.
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
Neurology
64
368-370
2005
315044
Dou W.,Gu X.,Fu L.,Peng C.,Zheng J.,Martiniuk F.,Sheng H.Z.
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Clin. Chim. Acta
374
145-146
2006
315045
Amartino H.,Painceira D.,Pomponio R.J.,Niizawa G.,Sabio Paz V.,Blanco M.,Chamoles N.
Two clinical forms of glycogen-storage disease type II in two generations of the same family.
Clin. Genet.
69
187-188
2006
315046
Montalvo A.L.,Bembi B.,Donnarumma M.,Filocamo M.,Parenti G.,Rossi M.,Merlini L.,Buratti E.,De Filippi P.,Dardis A.,Stroppiano M.,Ciana G.,Pittis M.G.
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Hum. Mutat.
27
999-1006
2006
315047
Muller-Felber W.,Horvath R.,Gempel K.,Podskarbi T.,Shin Y.,Pongratz D.,Walter M.C.,Baethmann M.,Schlotter-Weigel B.,Lochmuller H.,Schoser B.
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Neuromuscul. Disord.
17
698-706
2007
315048
Kroos M.,Pomponio R.J.,van Vliet L.,Palmer R.E.,Phipps M.,Van der Helm R.,Halley D.,Reuser A.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Hum. Mutat.
29
0-0
2008
315049
Pittis M.G.,Donnarumma M.,Montalvo A.L.E.,Dominissini S.,Kroos M.,Rosano C.,Stroppiano M.,Bianco M.G.,Donati M.A.,Parenti G.,D'Amico A.,Ciana G.,Di Rocco M.,Reuser A.,Bembi B.,Filocamo M.
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Hum. Mutat.
29
0-0
2008
315050
Oba-Shinjo S.M.,da Silva R.,Andrade F.G.,Palmer R.E.,Pomponio R.J.,Ciociola K.M.,Carvalho S.M.,Gutierrez P.S.,Porta G.,Marrone C.D.,Munoz V.,Grzesiuk A.K.,Llerena J.C. Jr.,Berditchevsky C.R.,Sobreira C.,Horovitz D.,Hatem T.P.,Frota E.R.,Pecchini R.,Kouyoumdjian J.A.,Werneck L.,Amado V.M.,Camelo J.S. Jr.,Mattaliano R.J.,Marie S.K.
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
J. Neurol.
256
1881-1890
2009
315051
Alcantara-Ortigoza M.A.,Gonzalez-del Angel A.,Barrientos-Rios R.,Cupples C.,Garrido-Garcia L.M.,de Leon-Bojorge B.,Alva-Chaire Adel C.
Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
J. Child Neurol.
25
1034-1037
2010
315052
Labrousse P.,Chien Y.H.,Pomponio R.J.,Keutzer J.,Lee N.C.,Akmaev V.R.,Scholl T.,Hwu W.L.
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Mol. Genet. Metab.
99
379-383
2010
315053
Fidzianska A.,Lugowska A.,Tylki-Szymanska A.
Late form of Pompe disease with glycogen storage in peripheral nerves axons.
J. Neurol. Sci.
301
59-62
2011
315054
Kroos M.,Hoogeveen-Westerveld M.,Michelakakis H.,Pomponio R.,Van der Ploeg A.,Halley D.,Reuser A.,Augoustides-Savvopoulou P.,Ausems M.,Llona J.B.,Bautista Lorite J.,van der Beek N.,Bonafe L.,Cuk M.,D'Hooghe M.,Engelen B.,Farouk A.,Fumic K.,Garcia-Delgado E.,Herzog A.,Hurst J.,Jones S.,Kariminejad M.H.,Kucukcongar A.,Lissens W.,Lund A.,Majoor-Krakauer D.,Kumamoto S.,Maravi E.,Marie S.,Mengel E.,Mavridou I.,Munteis Olivas E.,Najmabadi H.,Okumiya T.,Peric S.,Paschke E.,Plecko B.,Robberecht W.,Serdaroglu P.,Shboul M.,Tansek M.Z.,Tarnutzer A.,Stojanovic V.R.,Tylki-Szymanska A.,Venancio M.,Verhoeven K.
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Hum. Mutat.
33
1161-1165
2012
315055
Herzog A.,Hartung R.,Reuser A.J.,Hermanns P.,Runz H.,Karabul N.,Goekce S.,Pohlenz J.,Kampmann C.,Lampe C.,Beck M.,Mengel E.
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Orphanet J. Rare Dis.
7
35-35
2012
315056
Turaca L.T.,de Faria D.O.,Kyosen S.O.,Teixeira V.D.,Motta F.L.,Pessoa J.G.,Rodrigues E Silva M.,de Almeida S.S.,D'Almeida V.,Munoz Rojas M.V.,Martins A.M.,Pesquero J.B.
Novel GAA mutations in patients with Pompe disease.
Gene
561
124-131
2015
