InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GM2A

Summary

InnateDB Gene

IDBG-54334.6

Last Modified

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

Gene Symbol

GM2A

Gene Name

GM2 ganglioside activator

Synonyms

GM2-AP; SAP-3

Species

Homo sapiens

Ensembl Gene

ENSG00000196743

Encoded Proteins

IDBP-54336

GM2 ganglioside activator

IDBP-484360

GM2 ganglioside activator

IDBP-482079

GM2 ganglioside activator

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:151212150-151270440

Strand

Forward strand

Band

q33.1

Transcripts

ENST00000357164	ENSP00000349687
ENST00000523466	ENSP00000429100
ENST00000523004	ENSP00000430541

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid 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:0043085	positive regulation of catalytic activity
GO:0044281	small molecule metabolic process
GO:0050877	neurological system process
GO:0050885	neuromuscular process controlling balance
GO:0051345	positive regulation of hydrolase activity

Cellular Component

GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005764	lysosome
GO:0005889	hydrogen:potassium-exchanging ATPase complex
GO:0009898	cytoplasmic side of plasma membrane
GO:0043202	lysosomal lumen
GO:0045179	apical cortex
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000000594

View Gene Order

ENSBTAG00000021829

Not yet available

Pathways

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

P17900

TrEMBL

UniProt Splice Variant

Entrez Gene

2760

UniGene

Hs.483873 Hs.632878

RefSeq

NM_000405 NM_001167607

HUGO

HGNC:4367

OMIM

613109

CCDS

CCDS4313

HPRD

02034

IMGT

EMBL

AC008385 AF124717 AF124718 AF124719 AK312494 BC009273 CH471062 L01439 M76477 X16087 X61095 X62078

GenPept

AAA35907 AAA52767 AAD25741 AAH09273 BAG35396 CAA34215 CAA43408 CAA43993 CAA43994 EAW61680 EAW61681

RNA Seq Atlas

2760