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

GO curators for mouse genes have assigned the following annotations to the gene product of Neu1. (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.] The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [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 Neu1
  • participates in the following biological processes:
    • metabolic process ^[1]
  • performs the following molecular functions:
    • exo-alpha-sialidase activity ^[1]
  • is located in the following cellular components:
    • lysosome ^[1]
• The gene product of Neu1 has been shown to bind to the gene products of Ctsa. ^[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 Neu1:
  • is located in the following cellular components:
    • cell junction
    • intracellular membrane-bounded organelle

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Neu1 indicates that it:
  • performs the following molecular functions:
    • hydrolase activity
    • hydrolase activity, acting on glycosyl bonds
  • is located in the following cellular components:
    • cytoplasmic vesicle
    • membrane
    • plasma membrane
• Neu1 has been associated with the Enzyme Commission numbers: 3.2.1.18, which implies that the gene product:
  • performs the following molecular functions:
    • exo-alpha-(2->3)-sialidase activity
    • exo-alpha-(2->6)-sialidase activity
    • exo-alpha-(2->8)-sialidase activity

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References

1. Rottier RJ et al. (1998) A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse. Hum Mol Genet, 7:313-21. (PubMed:9425240)

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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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