Identification
HMDB Protein ID CDBP01565
Secondary Accession Numbers Not Available
Name Ganglioside GM2 activator
Description Not Available
Synonyms
  1. Cerebroside sulfate activator protein
  2. GM2-AP
  3. Ganglioside GM2 activator isoform short
  4. SAP-3
  5. Shingolipid activator protein 3
Gene Name GM2A
Protein Type Enzyme
Biological Properties
General Function Involved in sphingolipid activator protein activity
Specific Function 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
GO Classification Not Available
Cellular Location
  1. Lysosome
Pathways
Gene Properties
Chromosome Location Chromosome:5
Locus 5q33.1
SNPs GM2A
Gene Sequence
>582 bp
ATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGACCCCT
GCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGAT
GAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCGTCGTT
CCTGGAAATGTGACCCTCAGTGTCGTGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTG
AAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACA
GACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCT
ACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTC
AAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCC
AGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGT
CTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAG
Protein Properties
Number of Residues 193
Molecular Weight 20838.1
Theoretical pI 4.96
Pfam Domain Function Not Available
Signals
  • ["1-23"]
Transmembrane Regions
  • ["None"]
Protein Sequence
>Ganglioside GM2 activator
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIV
PGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIP
TGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKR
LGCIKIAASLKGI
GenBank ID Protein 4587479
UniProtKB/Swiss-Prot ID P17900
UniProtKB/Swiss-Prot Entry Name SAP3_HUMAN
PDB IDs
GenBank Gene ID AF124719
GeneCard ID GM2A
GenAtlas ID GM2A
HGNC ID HGNC:4367
References
General References Not Available