Entity Details

Primary name AGAL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP06280
EntryNameAGAL_HUMAN
FullNameAlpha-galactosidase A
TaxID9606
Evidenceevidence at protein level
Length429
SequenceStatuscomplete
DateCreated1988-01-01
DateModified2021-06-02

Ontological Relatives

GenesGLA

GO terms

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GOName
GO:0003824 catalytic activity
GO:0004557 alpha-galactosidase activity
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0006687 glycosphingolipid metabolic process
GO:0009311 oligosaccharide metabolic process
GO:0016139 glycoside catabolic process
GO:0016787 hydrolase activity
GO:0017041 galactosylgalactosylglucosylceramidase activity
GO:0035578 azurophil granule lumen
GO:0042803 protein homodimerization activity
GO:0043202 lysosomal lumen
GO:0043312 neutrophil degranulation
GO:0045019 negative regulation of nitric oxide biosynthetic process
GO:0046477 glycosylceramide catabolic process
GO:0046479 glycosphingolipid catabolic process
GO:0051001 negative regulation of nitric-oxide synthase activity
GO:0052692 raffinose alpha-galactosidase activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Lysosome

Domains

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DomainNameCategoryType
IPR000111 Glycoside hydrolase family 27/36, conserved siteSiteConserved site
IPR002241 Glycoside hydrolase, family 27FamilyFamily
IPR013780 Glycosyl hydrolase, all-betaFamilyHomologous superfamily
IPR013785 Aldolase-type TIM barrelFamilyHomologous superfamily
IPR017853 Glycoside hydrolase superfamilyFamilyHomologous superfamily
IPR035373 Alpha galactosidase A, C-terminal beta-sandwich domainDomainDomain

Diseases

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Disease IDSourceNameDescription
301500 OMIMFabry disease (FD)Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB05018 MigalastatDrugbanksmall molecule