Entity Details

Primary name GANAB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14697
EntryNameGANAB_HUMAN
FullNameNeutral alpha-glucosidase AB
TaxID9606
Evidenceevidence at protein level
Length944
SequenceStatuscomplete
DateCreated2004-07-05
DateModified2021-06-02

Ontological Relatives

GenesGANAB

GO terms

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GOName
GO:0003723 RNA binding
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0005975 carbohydrate metabolic process
GO:0006457 protein folding
GO:0006491 N-glycan processing
GO:0016020 membrane
GO:0017177 glucosidase II complex
GO:0019082 viral protein processing
GO:0030246 carbohydrate binding
GO:0033919 glucan 1,3-alpha-glucosidase activity
GO:0042470 melanosome
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome
GO:0090599 alpha-glucosidase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum
Golgi apparatus
Melanosome

Domains

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

Diseases

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Disease IDSourceNameDescription
600666 OMIMPolycystic kidney disease 3 with or without polycystic liver disease (PKD3)A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
617874 OMIMPolycystic liver disease 3 with or without kidney cysts (PCLD3)A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease.

Drugs

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DrugNameSourceType
DB00491 MiglitolDrugbanksmall molecule