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

GO curators for mouse genes have assigned the following annotations to the gene product of Ctns. (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 September 25, 2012. 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 seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

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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 Ctns
  • participates in the following biological processes:
    • amino acid transmembrane transport ^[1]
    • L-cystine transport ^[1]
  • performs the following molecular functions:
    • L-cystine transmembrane transporter activity ^[1]
  • is located in the following cellular components:
    • lysosome ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ctns
  • participates in the following biological processes:
    • adult walking behavior ^[2]
    • amino acid transmembrane transport ^[1]
    • compound eye corneal lens development ^[3]
    • grooming behavior ^[2]
    • L-cystine transport ^{[1, 2, 3]}
    • long-term memory ^[2]
    • visual learning ^[2]
  • performs the following molecular functions:
    • L-cystine transmembrane transporter activity ^{[1, 2]}

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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 Ctns:
  • participates in the following biological processes:
    • ATP metabolic process
    • brain development
    • cognition
    • glutathione metabolic process
    • L-cystine transport
  • performs the following molecular functions:
    • L-cystine transmembrane transporter activity
  • is located in the following cellular components:
    • late endosome
    • lysosomal membrane
    • lysosome
    • plasma membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ctns 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. Cherqui S et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol, 22:7622-32. (PubMed:12370309)
2. Maurice T et al. (2009) Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiol Aging, 30:987-1000. (PubMed:17977621)
3. Simpson J et al. (2011) Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns knockout mouse. Mol Vis, 17:2212-20. (PubMed:21897743)

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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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