| UniProt ID | SAP3_HUMAN | |
|---|---|---|
| UniProt AC | P17900 | |
| Protein Name | Ganglioside GM2 activator | |
| Gene Name | GM2A | |
| Organism | Homo sapiens (Human). | |
| Sequence Length | 193 | |
| Subcellular Localization | Lysosome. | |
| Protein Description | 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.. | |
| Protein Sequence | MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI | |
| Overview of Protein Modification Sites with Functional and Structural Information | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 3 | Phosphorylation | -----MQSLMQAPLL -----CCCHHHHHHH | 25.22 | 24043423 | |
| 63 | N-linked_Glycosylation | DPIIVPGNVTLSVMG CCEEECCCEEEEEEC | 19.96 | UniProtKB CARBOHYD | |
| 72 | O-linked_Glycosylation | TLSVMGSTSVPLSSP EEEEECCCCCCCCCC | 28.19 | OGP | |
| 77 | Phosphorylation | GSTSVPLSSPLKVDL CCCCCCCCCCEEEEE | 24.68 | 22210691 | |
| 78 | Phosphorylation | STSVPLSSPLKVDLV CCCCCCCCCEEEEEE | 41.77 | 22210691 | |
| 179 | Ubiquitination | SVLSSSGKRLGCIKI EECCCCCCEECEEEH | 46.53 | - | |
| 179 | 2-Hydroxyisobutyrylation | SVLSSSGKRLGCIKI EECCCCCCEECEEEH | 46.53 | - |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
Oops, there are no upstream regulatory protein records of SAP3_HUMAN !! | ||||||
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of SAP3_HUMAN !! | ||||||
* Distance = the distance between SAP position and PTM sites.
| Modified Location | Modification | Variant Position (Distance <= 10) |
Residue Change | SAP | Related Disease | Reference |
|---|---|---|---|---|---|---|
Oops, there are no SNP-PTM records of SAP3_HUMAN !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| HEXA_HUMAN | HEXA | physical | 9217013 | |
| ACTA_HUMAN | ACTA2 | physical | 28514442 |
| Kegg Disease | ||||||
|---|---|---|---|---|---|---|
| There are no disease associations of PTM sites. | ||||||
| OMIM Disease | ||||||
| 272750 | GM2-gangliosidosis AB (GM2GAB) | |||||
| Kegg Drug | ||||||
| There are no disease associations of PTM sites. | ||||||
| DrugBank | ||||||
| There are no disease associations of PTM sites. | ||||||
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