Entity Details

Primary name LYAG_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP10253
EntryNameLYAG_HUMAN
FullNameLysosomal alpha-glucosidase
TaxID9606
Evidenceevidence at protein level
Length952
SequenceStatuscomplete
DateCreated1989-07-01
DateModified2021-06-02

Ontological Relatives

GenesGAA

GO terms

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GOName
GO:0000023 maltose metabolic process
GO:0002026 regulation of the force of heart contraction
GO:0002086 diaphragm contraction
GO:0003007 heart morphogenesis
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004558 alpha-1,4-glucosidase activity
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005980 glycogen catabolic process
GO:0005985 sucrose metabolic process
GO:0006006 glucose metabolic process
GO:0007040 lysosome organization
GO:0007626 locomotory behavior
GO:0009888 tissue development
GO:0016020 membrane
GO:0030246 carbohydrate binding
GO:0032450 maltose alpha-glucosidase activity
GO:0035577 azurophil granule membrane
GO:0043181 vacuolar sequestering
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0046716 muscle cell cellular homeostasis
GO:0050884 neuromuscular process controlling posture
GO:0050885 neuromuscular process controlling balance
GO:0060048 cardiac muscle contraction
GO:0070062 extracellular exosome
GO:0070821 tertiary granule membrane
GO:0101003 ficolin-1-rich granule membrane

Subcellular Location

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Subcellular Location
Lysosome
Lysosome membrane

Domains

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DomainNameCategoryType
IPR000322 Glycoside hydrolase family 31FamilyFamily
IPR000519 P-type trefoil domainDomainDomain
IPR011013 Galactose mutarotase-like domain superfamilyFamilyHomologous superfamily
IPR013780 Glycosyl hydrolase, all-betaFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR017957 P-type trefoil, conserved siteSiteConserved site
IPR025887 Glycoside hydrolase family 31, N-terminal domainDomainDomain
IPR030458 Glycosyl hydrolases family 31, active siteSiteActive site
IPR030459 Glycosyl hydrolases family 31, conserved siteSiteConserved site
IPR031727 Galactose mutarotase, N-terminal barrelDomainDomain

Diseases

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Disease IDSourceNameDescription
232300 OMIMGlycogen storage disease 2 (GSD2)A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, 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. The juvenile and adult forms present 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00284 AcarboseDrugbanksmall molecule
DB00491 MiglitolDrugbanksmall molecule
DB05200 AT2220Drugbanksmall molecule
DB14962 Trastuzumab deruxtecanDrugbankbiotech