GAA
entrez
2548
canonical
uniprot
P10253
canonical
ensembl
ENSG00000171298
resolver
ensembl
ENSG00000291507
resolver
ensp
ENSP00000305692
resolver
ensp
ENSP00000374665
resolver
ensp
ENSP00000458306
resolver
ensp
ENSP00000460543
resolver
ensp
ENSP00000516980
resolver
ensp
ENSP00000516982
resolver
ensp
ENSP00000519347
resolver
ensp
ENSP00000519348
resolver
ensp
ENSP00000615546
resolver
ensp
ENSP00000615547
resolver
enst
ENST00000302262
resolver
enst
ENST00000390015
resolver
enst
ENST00000570803
resolver
enst
ENST00000577106
resolver
enst
ENST00000707779
resolver
enst
ENST00000707781
resolver
enst
ENST00000714057
resolver
enst
ENST00000714058
resolver
enst
ENST00000945487
resolver
enst
ENST00000945488
resolver
genesymbol
GAA
resolver
hgnc
HGNC:4065
resolver
uniprot
Q09GN4
resolver
uniprot
Q14351
resolver
uniprot
Q16302
resolver
uniprot
Q8IWE7
resolver
uniprot_entry
LYAG_HUMAN
resolver
uniprot_sec
Q09GN4
resolver
uniprot_sec
Q14351
resolver
uniprot_sec
Q16302
resolver
uniprot_sec
Q8IWE7
resolver
amino_acid_sequence
MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
uniprot
proteins
disease_involvement
DISEASE: Pompe disease, infantile-onset (IOPD) [MIM:232300]: An early-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. The classic early-onset form of IOPD presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. A milder infantile form manifests as progressive muscular disorder of childhood and patients have better prognosis. {ECO:0000269|PubMed:10189220, ECO:0000269|PubMed:10206684, ECO:0000269|PubMed:10338092, ECO:0000269|PubMed:11738358, ECO:0000269|PubMed:12923862, ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:14972326, ECO:0000269|PubMed:15145338, ECO:0000269|PubMed:16433701, ECO:0000269|PubMed:1652892, ECO:0000269|PubMed:16782080, ECO:0000269|PubMed:16860134, ECO:0000269|PubMed:18425781, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:1898413, ECO:0000269|PubMed:19588081, ECO:0000269|PubMed:20080426, ECO:0000269|PubMed:22644586, ECO:0000269|PubMed:22676651, ECO:0000269|PubMed:25681614, ECO:0000269|PubMed:7695647, ECO:0000269|PubMed:7717400, ECO:0000269|PubMed:7866409, ECO:0000269|PubMed:7981676, ECO:0000269|PubMed:8834250, ECO:0000269|PubMed:9521422, ECO:0000269|PubMed:9529346, ECO:0000269|PubMed:9535769, ECO:0000269|PubMed:9660056}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pompe disease, late-onset (LOPD) [MIM:621314]: A late-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. LOPD includes juvenile and adult forms and manifests as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. {ECO:0000269|PubMed:10338092, ECO:0000269|PubMed:10737124, ECO:0000269|PubMed:11071489, ECO:0000269|PubMed:12601120, ECO:0000269|PubMed:14643388, ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:15668445, ECO:0000269|PubMed:1684505, ECO:0000269|PubMed:16917947, ECO:0000269|PubMed:17643989, ECO:0000269|PubMed:19588081, ECO:0000269|PubMed:20350966, ECO:0000269|PubMed:21109266, ECO:0000269|PubMed:7881422, ECO:0000269|PubMed:8094613, ECO:0000269|PubMed:8401535, ECO:0000269|PubMed:8834250, ECO:0000269|PubMed:9535769, ECO:0000269|Ref.5}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.2.1.20
uniprot
proteins
function
FUNCTION: Essential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). {ECO:0000269|PubMed:14695532, ECO:0000269|PubMed:18429042, ECO:0000269|PubMed:1856189, ECO:0000269|PubMed:29061980, ECO:0000269|PubMed:7717400}.
uniprot
proteins
mass_dalton
105324
uniprot
proteins
mutagenesis
MUTAGEN 516; /note="W->R: Loss of activity."; /evidence="ECO:0000269|PubMed:1856189"; MUTAGEN 518; /note="D->G,N,E: Loss of activity."; /evidence="ECO:0000269|PubMed:1856189
uniprot
proteins
post_translational_modification
PTM: The different forms of acid glucosidase are obtained by proteolytic processing. {ECO:0000269|PubMed:3049072}.; PTM: Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.
uniprot
proteins
protein_family
Glycosyl hydrolase 31 family
uniprot
proteins
pubmed
10189220
uniprot
proteins
pubmed
10206684
uniprot
proteins
pubmed
10338092
uniprot
proteins
pubmed
10737124
uniprot
proteins
pubmed
11071489
uniprot
proteins
pubmed
11738358
uniprot
proteins
pubmed
12601120
uniprot
proteins
pubmed
12754519
uniprot
proteins
pubmed
12923862
uniprot
proteins
pubmed
14643388
uniprot
proteins
pubmed
14695532
uniprot
proteins
pubmed
14972326
uniprot
proteins
pubmed
15145338
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15668445
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16433701
uniprot
proteins
pubmed
1652892
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16782080
uniprot
proteins
pubmed
1684505
uniprot
proteins
pubmed
16860134
uniprot
proteins
pubmed
16917947
uniprot
proteins
pubmed
17643989
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
18425781
uniprot
proteins
pubmed
18429042
uniprot
proteins
pubmed
1856189
uniprot
proteins
pubmed
1898413
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19588081
uniprot
proteins
pubmed
20080426
uniprot
proteins
pubmed
20350966
uniprot
proteins
pubmed
21109266
uniprot
proteins
pubmed
2111708
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2203258
uniprot
proteins
pubmed
22644586
uniprot
proteins
pubmed
22676651
uniprot
proteins
pubmed
2268276
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25681614
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29061980
uniprot
proteins
pubmed
3049072
uniprot
proteins
pubmed
7603530
uniprot
proteins
pubmed
7695647
uniprot
proteins
pubmed
7717400
uniprot
proteins
pubmed
7866409
uniprot
proteins
pubmed
7881422
uniprot
proteins
pubmed
7981676
uniprot
proteins
pubmed
8094613
uniprot
proteins
pubmed
8401535
uniprot
proteins
pubmed
8435067
uniprot
proteins
pubmed
8486380
uniprot
proteins
pubmed
8834250
uniprot
proteins
pubmed
8912788
uniprot
proteins
pubmed
9521422
uniprot
proteins
pubmed
9529346
uniprot
proteins
pubmed
9535769
uniprot
proteins
pubmed
9660056
uniprot
proteins
sequence_length
952
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000269|PubMed:17897319}.
uniprot
proteins