InnateDB Protein
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IDBP-54336.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GM2A
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Protein Name
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GM2 ganglioside activator
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Synonyms
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GM2-AP; SAP-3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000349687
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InnateDB Gene
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IDBG-54334 (GM2A)
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Protein Structure
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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}.
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Subcellular Localization |
Lysosome.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003172
MD-2-related lipid-recognition domain
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PFAM |
PF02221
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PRINTS |
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PIRSF |
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SMART |
SM00737
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TIGRFAMs |
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Modification |
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SwissProt |
P17900
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2760
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UniGene |
Hs.632878
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RefSeq |
NP_001161079
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HUGO |
HGNC:4367
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OMIM |
613109
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CCDS |
CCDS4313
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HPRD |
02034
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IMGT |
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EMBL |
AC008385
AF124717
AF124718
AF124719
AK312494
BC009273
CH471062
L01439
M76477
X16087
X61095
X62078
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GenPept |
AAA35907
AAA52767
AAD25741
AAH09273
BAG35396
CAA34215
CAA43408
CAA43993
CAA43994
EAW61680
EAW61681
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