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

GO curators for mouse genes have assigned the following annotations to the gene product of Gba. (This text reflects annotations as of Wednesday, January 23, 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 lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

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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 Gba
  • is located in the following cellular components:
    • lysosomal lumen ^[1]
    • lysosomal membrane ^[1]
• Researchers have inferred, based on physical interactions, that the gene product of Gba
  • performs the following molecular functions:
    • receptor binding ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Gba:
  • participates in the following biological processes:
    • cellular response to tumor necrosis factor
    • ceramide biosynthetic process
    • glucosylceramide catabolic process
    • negative regulation of interleukin-6 production
    • negative regulation of MAP kinase activity
    • positive regulation of protein dephosphorylation
    • sphingosine biosynthetic process
    • termination of signal transduction
  • performs the following molecular functions:
    • glucosylceramidase activity

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Summary text based on GO annotations supported by structural data

• Gba encodes a protein or proteins that contain the following InterPro domains: Glycoside hydrolase, catalytic domain, Glycoside hydrolase, family 30, Glycoside hydrolase, superfamily, Glycosyl hydrolase, family 13, all-beta, indicating that the gene product:
  • participates in the following biological processes:
    • carbohydrate metabolic process
    • lysosome organization
    • sphingolipid metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • cation binding
  • is located in the following cellular components:
    • lysosome

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Summary text for additional MGI annotations

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

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References

1. Reczek D et al. (2007) LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell, 131:770-83. (PubMed:18022370)

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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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