GM2A
entrez
2760
canonical
uniprot
P17900
canonical
ensembl
ENSG00000196743
resolver
ensp
ENSP00000349687
resolver
enst
ENST00000357164
resolver
genesymbol
GM2A
resolver
hgnc
HGNC:4367
resolver
uniprot
B2R699
resolver
uniprot
D3DQH6
resolver
uniprot
Q14426
resolver
uniprot
Q14428
resolver
uniprot
Q6LBL5
resolver
uniprot_entry
SAP3_HUMAN
resolver
uniprot_sec
B2R699
resolver
uniprot_sec
D3DQH6
resolver
uniprot_sec
Q14426
resolver
uniprot_sec
Q14428
resolver
uniprot_sec
Q6LBL5
resolver
activity_regulation
ACTIVITY REGULATION: Activity is inhibited by cholesterol, sphingomyelin, sphingosine, and sphinganine. Activity is stimulated by ceramide, diacylglycerol, fatty acids, lysophosphatidylcholine, and anionic lipids such as BMP (bis(monoacylglycero)phosphate). {ECO:0000269|PubMed:30988135}.
uniprot
proteins
amino_acid_sequence
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:1915858, ECO:0000269|PubMed:8244332, ECO:0000269|PubMed:8900233}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lipid-binding and transfer protein essential for lysosomal degradation of ganglioside GM2. Extracts single GM2 molecules from intralysosomal luminal vesicle (ILV) membranes and presents them in soluble form to beta-hexosaminidase A (HEXA) for cleavage of N-acetyl-D-galactosamine and conversion to GM3 (PubMed:30988135, PubMed:8900233). Forms a stoichiometric GM2-GM2A complex that serves as the substrate for HEXA (PubMed:30988135, PubMed:8900233). Also stimulates the breakdown of glycolipid GA2 by HEXA (By similarity). Possesses dual function: membrane lipid mobilization/solubilization and lipid substrate presentation to hydrolases (PubMed:30988135). The large binding pocket can accommodate several single-chain phospholipids and fatty acids (By similarity). Exhibits some calcium-independent phospholipase activity (By similarity). Participates in cholesterol transfer (PubMed:17552909). {ECO:0000250|UniProtKB:Q60648, ECO:0000269|PubMed:17552909, ECO:0000269|PubMed:30988135, ECO:0000269|PubMed:8900233}.
uniprot
proteins
mass_dalton
20838
uniprot
proteins
post_translational_modification
PTM: The serines in positions 32 and 33 are absent in 80% of the sequenced protein.
uniprot
proteins
pubmed
10364519
uniprot
proteins
pubmed
11090283
uniprot
proteins
pubmed
1427911
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1554364
uniprot
proteins
pubmed
17552909
uniprot
proteins
pubmed
1915857
uniprot
proteins
pubmed
1915858
uniprot
proteins
pubmed
2059210
uniprot
proteins
pubmed
2209618
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2753159
uniprot
proteins
pubmed
30988135
uniprot
proteins
pubmed
8244332
uniprot
proteins
pubmed
8900233
uniprot
proteins
sequence_length
193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome {ECO:0000305|PubMed:8900233}.
uniprot
proteins