Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gm2a. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Gm2a
  • participates in the following biological processes:
    • positive regulation of catalytic activity ^[1]
  • performs the following molecular functions:
    • enzyme activator activity ^[1]
  • is located in the following cellular components:
    • mitochondrion ^[4]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Gm2a
  • participates in the following biological processes:
    • ganglioside catabolic process ^[3]
    • learning or memory ^[3]
    • lipid storage ^[3]
    • neurological system process ^[3]
    • neuromuscular process controlling balance ^[3]
    • oligosaccharide catabolic process ^[2]
  • performs the following molecular functions:
    • beta-N-acetylhexosaminidase activity ^[2]

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gm2a indicates that it:
  • participates in the following biological processes:
    • lipid metabolic process
    • sphingolipid metabolic process
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • lysosome

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References

1. Beccari T et al. (1994) GM2 activator protein expression in mouse tissues. Biochem Biophys Res Commun, 204:741-5. (PubMed:7980537)
2. Liao MJ et al. (1998) No requirement for V(D)J recombination in p53-deficient thymic lymphoma. Mol Cell Biol, 18:3495-501. (PubMed:9584189)
3. Liu Y et al. (1997) Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment. Proc Natl Acad Sci U S A, 94:8138-43. (PubMed:9223328)
4. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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