InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Gm2a

Summary

InnateDB Gene

IDBG-174816.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Gm2a

Gene Name

GM2 ganglioside activator protein

Synonyms

AA408702; AW215435; GM2-AP; SAP-3

Species

Mus musculus

Ensembl Gene

ENSMUSG00000000594

Encoded Proteins

IDBP-174818

GM2 ganglioside activator protein

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 11:55098115-55113029

Strand

Forward strand

Band

B1.3

Transcripts

ENSMUST00000000608

ENSMUSP00000000608

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004563	beta-N-acetylhexosaminidase activity
GO:0005319	lipid transporter activity
GO:0008047	enzyme activator activity
GO:0016004	phospholipase activator activity
GO:0032428	beta-N-acetylgalactosaminidase activity

Biological Process

GO:0001573	ganglioside metabolic process
GO:0006689	ganglioside catabolic process
GO:0006869	lipid transport
GO:0007611	learning or memory
GO:0009313	oligosaccharide catabolic process
GO:0019915	lipid storage
GO:0050877	neurological system process
GO:0050885	neuromuscular process controlling balance
GO:0051345	positive regulation of hydrolase activity

Cellular Component

GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005764	lysosome
GO:0005889	hydrogen:potassium-exchanging ATPase complex
GO:0009898	cytoplasmic side of plasma membrane
GO:0045179	apical cortex
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000196743

View Gene Order

ENSBTAG00000021829

Not yet available

Pathways

NETPATH

REACTOME

REACT_199008

Glycosphingolipid metabolism pathway

REACT_188937

Metabolism pathway

REACT_245163

Sphingolipid metabolism pathway

REACT_232291

Metabolism of lipids and lipoproteins pathway

KEGG

mmu04142

Lysosome pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

REACT_116105

Glycosphingolipid metabolism pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

Q60648

TrEMBL

Q5F1Z8

UniProt Splice Variant

Entrez Gene

14667

UniGene

Mm.287807 Mm.475162

RefSeq

NM_010299

OMIM

CCDS

CCDS24707

HPRD

IMGT

MGI ID

MGI:95762

MGI Symbol

Gm2a

EMBL

AK152256 BC004651 CH466575 CT010289 L19526 U09816 U34356 U34357 U34358 U34359

GenPept

AAA21543 AAA61929 AAB06275 AAH04651 BAE31075 CAJ18497 EDL33503

RNA Seq Atlas

14667