Entity Details

Primary name SAP3_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP17900
EntryNameSAP3_HUMAN
FullNameGanglioside GM2 activator
TaxID9606
Evidenceevidence at protein level
Length193
SequenceStatuscomplete
DateCreated1990-11-01
DateModified2021-06-02

Ontological Relatives

GenesGM2A

GO terms

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GOName
GO:0005319 lipid transporter activity
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0006687 glycosphingolipid metabolic process
GO:0006689 ganglioside catabolic process
GO:0006869 lipid transport
GO:0007611 learning or memory
GO:0009313 oligosaccharide catabolic process
GO:0009898 cytoplasmic side of plasma membrane
GO:0016004 phospholipase activator activity
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0019915 lipid storage
GO:0032428 beta-N-acetylgalactosaminidase activity
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0050885 neuromuscular process controlling balance
GO:0051345 positive regulation of hydrolase activity
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Lysosome

Domains

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DomainNameCategoryType
IPR003172 MD-2-related lipid-recognition domainDomainDomain
IPR028996 Ganglioside GM2 activatorFamilyFamily
IPR036846 GM2-AP, lipid-recognition domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
272750 OMIMGM2-gangliosidosis AB (GM2GAB)An autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. It is characterized by GM2 gangliosides accumulation in the presence of both normal hexosaminidase A and B. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB02261 Platelet Activating FactorDrugbanksmall molecule
DB03017 Lauric acidDrugbanksmall molecule
DB03633 Lpc-EtherDrugbanksmall molecule
DB04660 Choline alfoscerateDrugbanksmall molecule
DB08231 Myristic acidDrugbanksmall molecule

Interactions

4 interactions