NameGanglioside GM2 activator
Synonyms
  • Cerebroside sulfate activator protein
  • GM2-AP
  • SAP-3
  • Sphingolipid activator protein 3
Gene NameGM2A
OrganismHuman
Amino acid sequence
>lcl|BSEQ0037141|Ganglioside GM2 activator
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
Number of residues193
Molecular Weight20838.1
Theoretical pI4.96
GO Classification
Functions
  • phospholipase activator activity
  • lipid transporter activity
  • beta-N-acetylgalactosaminidase activity
Processes
  • neuromuscular process controlling balance
  • learning or memory
  • sphingolipid metabolic process
  • glycosphingolipid metabolic process
  • ganglioside catabolic process
  • oligosaccharide catabolic process
  • positive regulation of hydrolase activity
  • lipid storage
  • small molecule metabolic process
Components
  • extracellular exosome
  • lysosomal lumen
  • cytoplasmic side of plasma membrane
  • hydrogen
  • apical cortex
  • mitochondrion
General FunctionPhospholipase activator activity
Specific FunctionThe 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.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID183357
UniProtKB IDP17900
UniProtKB Entry NameSAP3_HUMAN
Cellular LocationLysosome
Gene sequence
>lcl|BSEQ0021666|Ganglioside GM2 activator (GM2A)
ATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGGCCCCT
GCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGAT
GAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCATCGTT
CCTGGAAATGTGACCCTCAGTGTCATGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTG
AAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACA
GACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCT
ACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTC
AAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCC
AGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGT
CTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAA
GenBank Gene IDM76477
GeneCard IDNot Available
GenAtlas IDGM2A
HGNC IDHGNC:4367
Chromosome Location5
Locus5q31.3-q33.1
References
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  4. Xie B, Kennedy JL, McInnes B, Auger D, Mahuran D: Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5. Genomics. 1992 Nov;14(3):796-8. 1427911
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