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

GO curators for mouse genes have assigned the following annotations to the gene product of Asah1. (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 heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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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 Asah1
  • participates in the following biological processes:
    • metabolic process ^[1]
  • performs the following molecular functions:
    • ceramidase activity ^[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 Asah1:
  • participates in the following biological processes:
    • lung development
    • response to organic substance

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Summary text based on GO annotations supported by structural data

• Asah1 encodes a protein or proteins that contain the following InterPro domains: Acid ceramidase-like, Choloylglycine hydrolase, indicating that the gene product:
  • participates in the following biological processes:
    • lipid metabolic process
  • performs the following molecular functions:
    • hydrolase activity
  • 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 Asah1 indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
  • is located in the following cellular components:
    • lysosome

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References

1. Li CM et al. (1998) Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidase. Genomics, 50:267-74. (PubMed:9653654)

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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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