Tbio GM2A Ganglioside GM2 activator

Protein Summary

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. 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]

Uniprot Accession IDs

• P17900
• B2R699
• D3DQH6
• Q14426
• Q14428
• Q6LBL5

Gene Name

• GM2A

Ensembl ID

• ENST00000357164
• ENSP00000349687
• ENSG00000196743

Symbol

• SAP-3
• GM2-AP

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	1
disease perturbation	0.98
kinase perturbation	0.98
interacting protein	0.94
cellular component	0.82

Protein Classes

PANTHER Classes

Protein / Transfer/carrier Protein / Ganglioside Gm2 Activator

DTO Classes

Protein / Transporter / Ganglioside Gm2 Activator

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 188.84   (req: < 5)

Gene RIFs: 18   (req: <= 3)

Antibodies: 444   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 188.84   (req: >= 5)

Gene RIFs: 18   (req: > 3)

Antibodies: 444   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0