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

GO curators for mouse genes have assigned the following annotations to the gene product of Slc17a5. (This text reflects annotations as of Wednesday, August 14, 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 membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [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 Slc17a5
  • is located in the following cellular components:
    • cytoplasmic membrane-bounded vesicle ^[1]
    • plasma membrane ^[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 Slc17a5:
  • participates in the following biological processes:
    • sialic acid transport
    • transmembrane transport
  • performs the following molecular functions:
    • sialic acid transmembrane transporter activity
  • is located in the following cellular components:
    • lysosomal membrane
    • lysosome

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Summary text based on GO annotations supported by structural data

• Slc17a5 encodes a protein or proteins that contain the following InterPro domains: Major facilitator superfamily, Major facilitator superfamily domain, Major facilitator superfamily domain, general substrate transporter, indicating that the gene product:
  • is located in the following cellular components:
    • integral to membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Slc17a5 indicates that it:
  • participates in the following biological processes:
    • amino acid transport
    • transport
  • performs the following molecular functions:
    • symporter activity
  • is located in the following cellular components:
    • cell junction
    • cytoplasmic vesicle
    • integral to membrane
    • membrane
    • synapse

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References

1. Aula N et al. (2004) Sialin expression in the CNS implicates extralysosomal function in neurons. Neurobiol Dis, 15:251-61. (PubMed:15006695)

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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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