Gene/Proteome Database (LMPD)
LMPD ID
LMP000886
Gene ID
Species
Homo sapiens (Human)
Gene Name
GM2 ganglioside activator
Gene Symbol
Synonyms
GM2-AP; SAP-3
Chromosome
5
Map Location
5q33.1
Summary
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Orthologs
Proteins
| ganglioside GM2 activator isoform 1 precursor | |
|---|---|
| Refseq ID | NP_000396 |
| Protein GI | 39995109 |
| UniProt ID | P17900 |
| mRNA ID | NM_000405 |
| Length | 193 |
| RefSeq Status | REVIEWED |
| MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI | |
| ganglioside GM2 activator isoform 2 precursor | |
|---|---|
| Refseq ID | NP_001161079 |
| Protein GI | 39995109 |
| UniProt ID | P17900 |
| mRNA ID | NM_001167607 |
| Length | 193 |
| RefSeq Status | REVIEWED |
| MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI | |
| sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2335 peptide sequence: MQSLMQAPLLIALGLLLAAPAQA sig_peptide: 1..23 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2335 peptide sequence: MQSLMQAPLLIALGLLLAAPAQA | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0045179 | IEA:Ensembl | C | apical cortex |
| GO:0009898 | IEA:Ensembl | C | cytoplasmic side of plasma membrane |
| GO:0070062 | IDA:UniProtKB | C | extracellular vesicular exosome |
| GO:0043202 | TAS:Reactome | C | lysosomal lumen |
| GO:0005739 | IEA:Ensembl | C | mitochondrion |
| GO:0004563 | IEA:Ensembl | F | beta-N-acetylhexosaminidase activity |
| GO:0005319 | IEA:Ensembl | F | lipid transporter activity |
| GO:0016004 | IEA:Ensembl | F | phospholipase activator activity |
| GO:0006689 | IEA:Ensembl | P | ganglioside catabolic process |
| GO:0006687 | TAS:Reactome | P | glycosphingolipid metabolic process |
| GO:0007611 | IEA:Ensembl | P | learning or memory |
| GO:0019915 | IEA:Ensembl | P | lipid storage |
| GO:0050885 | IEA:Ensembl | P | neuromuscular process controlling balance |
| GO:0009313 | IEA:Ensembl | P | oligosaccharide catabolic process |
| GO:0051345 | IEA:Ensembl | P | positive regulation of hydrolase activity |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0006665 | TAS:Reactome | P | sphingolipid metabolic process |
KEGG Pathway Links
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_116105 | Glycosphingolipid metabolism |
| REACT_19323 | Sphingolipid metabolism |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Disease | GM2-gangliosidosis AB (GM2GAB) [MIM |
| 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. |
| Ptm | The serines in positions 32 and 33 are absent in 80% of the sequenced protein. |
| Sequence Caution | Sequence=CAA43408.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=CAA43994.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ; |
| Subcellular Location | Lysosome. |
| Web Resource | Name=GM2Adb; Note=GM2A mutation database; URL="http://www.hexdb.mcgill.ca/?Topic=GM2Adb"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP000886 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 39995109 | RefSeq | NP_000396 | 193 | ganglioside GM2 activator isoform 1 precursor |
| 39995109 | RefSeq | NP_001161079 | 193 | ganglioside GM2 activator isoform 2 precursor |
Identical Sequences to LMP000886 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:39995109 | GenBank | EAW61680.1 | 193 | GM2 ganglioside activator, isoform CRA_a [Homo sapiens] |
| GI:39995109 | GenBank | EAW61680.1 | 193 | GM2 ganglioside activator, isoform CRA_a [Homo sapiens] |
| GI:39995109 | GenBank | EAW61681.1 | 193 | GM2 ganglioside activator, isoform CRA_a [Homo sapiens] |
| GI:39995109 | GenBank | EAW61681.1 | 193 | GM2 ganglioside activator, isoform CRA_a [Homo sapiens] |
| GI:39995109 | GenBank | AED38908.1 | 193 | Sequence 625 from patent US 7883858 |
| GI:39995109 | GenBank | AED38908.1 | 193 | Sequence 625 from patent US 7883858 |
| GI:39995109 | SwissProt | P17900.4 | 193 | RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activator protein; AltName: Full=GM2-AP; AltName: Full=Sphingolipid activator protein 3; Short=SAP-3; Contains: RecName: Full=Ganglioside GM2 activator isoform short; Flags: Precursor [Homo sapiens] |
| GI:39995109 | SwissProt | P17900.4 | 193 | RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activator protein; AltName: Full=GM2-AP; AltName: Full=Sphingolipid activator protein 3; Short=SAP-3; Contains: RecName: Full=Ganglioside GM2 activator isoform short; Flags: Precursor [Homo sapiens] |
Related Sequences to LMP000886 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:39995109 | EMBL | CAA43408.1 | 200 | GM2-activator protein, partial [Homo sapiens] |
| GI:39995109 | EMBL | CAA43408.1 | 200 | GM2-activator protein, partial [Homo sapiens] |
| GI:39995109 | GenBank | AAA35907.1 | 193 | G-M2 activator protein [Homo sapiens] |
| GI:39995109 | GenBank | AAA35907.1 | 193 | G-M2 activator protein [Homo sapiens] |
| GI:39995109 | GenBank | AAH09273.1 | 193 | GM2 ganglioside activator [Homo sapiens] |
| GI:39995109 | GenBank | AAH09273.1 | 193 | GM2 ganglioside activator [Homo sapiens] |
| GI:39995109 | GenBank | ABI07115.1 | 200 | Sequence 11 from patent US 7081345 |
| GI:39995109 | GenBank | ABI07115.1 | 200 | Sequence 11 from patent US 7081345 |
| GI:39995109 | GenBank | ACQ17984.1 | 200 | Sequence 11 from patent US 7510843 |
| GI:39995109 | GenBank | ACQ17984.1 | 200 | Sequence 11 from patent US 7510843 |
| GI:39995109 | GenBank | AIC54465.1 | 193 | GM2A, partial [synthetic construct] |
| GI:39995109 | GenBank | AIC54465.1 | 193 | GM2A, partial [synthetic construct] |