Bos taurus Gene: GM2A | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||
InnateDB Gene | IDBG-646327.3 | ||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||
Gene Symbol | GM2A | ||||||||||||
Gene Name | ganglioside GM2 activator precursor | ||||||||||||
Synonyms | |||||||||||||
Species | Bos taurus | ||||||||||||
Ensembl Gene | ENSBTAG00000021829 | ||||||||||||
Encoded Proteins |
GM2 ganglioside activator
|
||||||||||||
Protein Structure | |||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||
Entrez Gene | |||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000196743:
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] |
||||||||||||
Gene Information | |||||||||||||
Type | Protein coding | ||||||||||||
Genomic Location | Chromosome 7:64499096-64511547 | ||||||||||||
Strand | Forward strand | ||||||||||||
Band | |||||||||||||
Transcripts |
|
||||||||||||
Interactions | |||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
||||||||||||
Gene Ontology | |||||||||||||
Molecular Function |
|
||||||||||||
Biological Process |
|
||||||||||||
Cellular Component |
|
||||||||||||
Orthologs | |||||||||||||
Species
Homo sapiens
Mus musculus
|
Gene ID
Gene Order
|
||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||
NETPATH | |||||||||||||
REACTOME |
Glycosphingolipid metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
|
||||||||||||
KEGG |
Lysosome pathway
Lysosome pathway
|
||||||||||||
INOH | |||||||||||||
PID NCI | |||||||||||||
Cross-References | |||||||||||||
SwissProt | |||||||||||||
TrEMBL | E1BI28 | ||||||||||||
UniProt Splice Variant | |||||||||||||
Entrez Gene | 504524 | ||||||||||||
UniGene | Bt.1539 | ||||||||||||
RefSeq | NM_001205547 | ||||||||||||
HUGO | |||||||||||||
OMIM | |||||||||||||
CCDS | |||||||||||||
HPRD | |||||||||||||
IMGT | |||||||||||||
EMBL | DAAA02020640 | ||||||||||||
GenPept | |||||||||||||
RNA Seq Atlas | 504524 | ||||||||||||