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

GO curators for mouse genes have assigned the following annotations to the gene product of Slc19a3. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 9, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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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 ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

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

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Slc19a3
  • performs the following molecular functions:
    • thiamine uptake transmembrane transporter activity ^[1]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Slc19a3
  • is located in the following cellular components:
    • 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 Slc19a3:
  • participates in the following biological processes:
    • thiamine transport
  • performs the following molecular functions:
    • thiamine transmembrane transporter activity
  • is located in the following cellular components:
    • integral to plasma membrane

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Summary text based on GO annotations supported by structural data

• Slc19a3 encodes a protein or proteins that contain the following InterPro domains: Major facilitator superfamily domain, general substrate transporter, Reduced folate carrier, indicating that the gene product:
  • participates in the following biological processes:
    • transport
  • performs the following molecular functions:
    • folic acid binding
    • reduced folate carrier activity
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Slc19a3 indicates that it:
  • participates in the following biological processes:
    • transport
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Reidling JC et al. (2010) Impaired intestinal vitamin B1 (thiamin) uptake in thiamin transporter-2-deficient mice. Gastroenterology, 138:1802-9. (PubMed:19879271)

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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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