InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GM2A

Summary

InnateDB Protein

IDBP-54336.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GM2A

Protein Name

GM2 ganglioside activator

Synonyms

GM2-AP; SAP-3;

Species

Homo sapiens

Ensembl Protein

ENSP00000349687

InnateDB Gene

IDBG-54334 (GM2A)

Protein Structure

UniProt Annotation

Function

The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. {ECO:0000250}.

Subcellular Localization

Lysosome.

Disease Associations

GM2-gangliosidosis AB (GM2GAB) [MIM:272750]: 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. {ECO:0000269PubMed:1915858, ECO:0000269PubMed:8244332, ECO:0000269PubMed:8900233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004563	beta-N-acetylhexosaminidase activity
GO:0005319	lipid transporter activity
GO:0008047	enzyme activator activity
GO:0016004	phospholipase activator activity
GO:0032428	beta-N-acetylgalactosaminidase activity

Biological Process

GO:0001573	ganglioside metabolic process
GO:0006665	sphingolipid metabolic process
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:0019915	lipid storage
GO:0044281	small molecule metabolic process
GO:0050877	neurological system process
GO:0050885	neuromuscular process controlling balance
GO:0051345	positive regulation of hydrolase activity

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005764	lysosome
GO:0005889	hydrogen:potassium-exchanging ATPase complex
GO:0009898	cytoplasmic side of plasma membrane
GO:0043202	lysosomal lumen
GO:0045179	apical cortex
GO:0070062	extracellular vesicular exosome