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

GO curators for mouse genes have assigned the following annotations to the gene product of Clcn5. (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 member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

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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 Clcn5
  • is located in the following cellular components:
    • apical part of cell ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Clcn5
  • participates in the following biological processes:
    • endocytosis ^[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 Clcn5:
  • participates in the following biological processes:
    • chloride transport
  • performs the following molecular functions:
    • voltage-gated chloride channel activity
  • is located in the following cellular components:
    • apical part of cell
    • endosome
    • membrane

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Summary text based on GO annotations supported by structural data

• Clcn5 encodes a protein or proteins that contain the following InterPro domains: Chloride channel ClC-5, Chloride channel, core, Chloride channel, voltage gated, Cystathionine beta-synthase, core, indicating that the gene product:
  • participates in the following biological processes:
    • transmembrane transport
  • performs the following molecular functions:
    • ion channel activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Clcn5 indicates that it:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • antiporter activity
    • ATP binding
    • nucleotide binding
  • is located in the following cellular components:
    • Golgi apparatus
    • integral to membrane
    • plasma membrane

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References

1. Christensen EI et al. (2003) Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A, 100:8472-7. (PubMed:12815097)
2. Jouret F et al. (2004) Comparative ontogeny, processing, and segmental distribution of the renal chloride channel, ClC-5. Kidney Int, 65:198-208. (PubMed:14675051)

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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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