GAA E521K [lysosomal lumen]

Stable Identifier
R-HSA-5357598
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
lysosomal alpha-glucosidase E521K, acid maltase E521K
Icon
GAA E521K [lysosomal lumen] icon
GAA E521K [lysosomal lumen] icon
Locations in the PathwayBrowser
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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

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

Biochem. Biophys. Res. Commun. 1991
External Reference Information
External Reference
UniProt:P10253 GAA
Gene Names
GAA
Chain
signal peptide:1-27, propeptide:28-69, chain:70-952, chain:123-952, chain:204-952
Reference Genes
BioGPS Gene:2548 GAA
COSMIC (genes):GAA GAA
CTD Gene:2548 GAA
dbSNP Gene:2548 GAA
ENSEMBL:ENSG00000171298 GAA
HGNC:4065 GAA
KEGG:hsa:2548 GAA
Monarch:2548 GAA
NCBI Gene:2548 GAA
OMIM:606800 GAA
UCSC:P10253 GAA
Reference Transcript
Other Identifiers
11716871_at
16838509
202812_PM_at
202812_at
2548
31816_at
3737141
3737142
3737143
3737144
3737145
3737146
3737147
3737148
3737149
3737150
3737151
3737152
3737153
3737154
3737155
3737156
3737157
3737159
3737160
3737161
3737162
3737163
3737164
3737165
3737166
3737167
3737168
3737169
3737170
3737171
3737172
3737174
3737175
8010354
83783_at
A_23_P153026
GE59804
GO:0000023
GO:0002026
GO:0002086
GO:0003007
GO:0003012
GO:0003016
GO:0003824
GO:0004553
GO:0004558
GO:0005576
GO:0005764
GO:0005765
GO:0005773
GO:0005886
GO:0005975
GO:0005977
GO:0005980
GO:0005985
GO:0006006
GO:0006091
GO:0006914
GO:0006941
GO:0007040
GO:0007626
GO:0009888
GO:0016020
GO:0016787
GO:0016798
GO:0030246
GO:0035577
GO:0035904
GO:0043181
GO:0043202
GO:0043226
GO:0043231
GO:0046716
GO:0048856
GO:0050877
GO:0050884
GO:0050885
GO:0060048
GO:0061723
GO:0070062
GO:0070821
GO:0090599
GO:0101003
GO:0120282
HMNXSV003034469
ILMN_1765801
ILMN_2410783
PH_hs_0000195
TC17000915.hg
X55079_rna1_at
g11496988_3p_at
Participates
as a member of
Other forms of this molecule
GAA [tertiary granule membrane]
GAA [plasma membrane]
GAA [azurophil granule membrane]
GAA [ficolin-1-rich granule membrane]
GAA (123-?) [lysosomal lumen]
GAA (204-?) [lysosomal lumen]
GAA M318T [lysosomal lumen]
Modified Residues
Name
L-glutamic acid 521 replaced with L-lysine
Coordinate
521
PsiMod
L-lysine residue [MOD:00021]
A protein modification that effectively converts a source amino acid residue to L-lysine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
glycogen storage disease II DOID: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
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Metabolites
IntEnz
HPA
GeneCards
GAA
Pharos - Targets
Orphanet
GAA
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (3)
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