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MIRAGE
ganglioside GM2 activator
Summary
- Gene Symbol
-
- GM2A
- Aliases
-
- GM2-AP
- GM2-activator protein
- GM2AP
- SAP-3
- cerebroside sulfate activator protein
- sphingolipid activator protein 3
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Gangliosidosis
- Glycoprotein
- Hydrolase
- Lysosome
- Reference proteome
- Signal
- Sphingolipid metabolism
- Proteins
| UniProt | Protein Name |
|---|---|
| P17900 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| ganglioside catabolic process | ||
| lipid transport | ||
| learning or memory | ||
| oligosaccharide catabolic process | ||
| lipid storage |
GO Hierarchy
biological process
metabolic process [inference]
catabolic process [inference]
cellular metabolic process [inference]
primary metabolic process [inference]
organic substance metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| cytosol | ||
| cytoplasmic side of plasma membrane | ||
| basolateral plasma membrane | ||
| apical plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid transporter activity | ||
| protein binding | ||
| phospholipase activator activity | ||
| sphingolipid activator protein activity | ||
| beta-N-acetylgalactosaminidase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- transfer protein
- Functional Category
-
- E: Amino acid transport and metabolism
- J: Translation, ribosomal structure and biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| intracellular sterol transport |
| sterol transport |
| InterPro |
|---|
| Immunoglobulin E-set |
| MD-2-related lipid-recognition domain |
| Sterol transport protein NPC2-like |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000618 | Blindness |
| HP:0000719 | Inappropriate behavior |
| HP:0000726 | Dementia |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001276 | Hypertonia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:309246 |
|
| OMIM:272750 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000886
- Gene Name
- GM2 ganglioside activator
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1399 | Xenbase:XB-GENE-999131 | ||
| 2760 | Xenbase:XB-GENE-999131 | ||
| 12929 | Xenbase:XB-GENE-999131 | ||
| 14667 | Xenbase:XB-GENE-999131 | MOUSE05835 | |
| 282838 | RATNO03016 | ||
| 471705 | PANTR36618 | ||
| 504524 | BOVIN33779 | ||
| 550529 | DANRE08052 | ||
| 713375 | MACMU38491 | ||
| 100029456 | MONDO09190 |
