GAA E521K [lysosomal lumen]

Stable Identifier
R-HSA-5357598
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
lysosomal alpha-glucosidase E521K, acid maltase E521K
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1898413 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II

Hermans, MM, de Graaff, E, Kroos, MA, Wisselaar, HA, Oostra, BA, Reuser, AJ

Biochem. Biophys. Res. Commun. 1991
External Reference Information
External Reference
Gene Names
GAA
Chain
signal peptide:1-27, propeptide:28-69, chain:70-952, chain:123-952, chain:204-952
Other Identifiers
0006550500
11716871_at
16838509
202812_at
2548
31816_at
3737141
3737142
3737143
3737146
3737147
3737148
3737150
3737151
3737152
3737153
3737154
3737155
3737156
3737157
3737159
3737160
3737161
3737163
3737164
3737167
3737168
3737169
3737170
3737171
3737172
3737174
3737175
8010354
A_23_P153026
GE59804
GO:0000023
GO:0002026
GO:0002086
GO:0002376
GO:0003007
GO:0003013
GO:0003674
GO:0003824
GO:0004553
GO:0004558
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005737
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0005975
GO:0005977
GO:0005980
GO:0005985
GO:0006006
GO:0006091
GO:0006810
GO:0006941
GO:0007040
GO:0007626
GO:0008150
GO:0008152
GO:0009056
GO:0009888
GO:0016020
GO:0016192
GO:0016787
GO:0016798
GO:0030246
GO:0031410
GO:0032450
GO:0035577
GO:0042592
GO:0043181
GO:0043202
GO:0043226
GO:0043312
GO:0044281
GO:0046716
GO:0048856
GO:0050877
GO:0050884
GO:0050885
GO:0060048
GO:0070062
GO:0070821
GO:0090599
GO:0101003
ILMN_1765801
ILMN_2410783
PH_hs_0000195
TC17000915.hg
X55079_rna1_at
g11496988_3p_at
Participant Of
Other forms of this molecule
Modified Residues
Name
L-glutamic acid 521 replaced with L-lysine
Coordinate
521
PsiMod
A protein modification that effectively removes or replaces an L-glutamic acid.
A protein modification that effectively converts a source amino acid residue to L-lysine.
Disease
Name Identifier Synonyms
glycogen storage disease II 2752 Lysosomal alpha-1,4-glucosidase deficiency (disorder), deficiency of glucoamylase, glycogen storage disease type II, acid maltase deficiency, deficiency of maltase, Glycogen storage disease, type II (disorder), Pompe's disease, Generalized glycogenosis (disorder), Glycogenosis, type 2
Cross References
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC target
ZINC - Biogenic
PRO
ZINC - Metabolites
IntEnz
GeneCards
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
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