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

GO curators for mouse genes have assigned the following annotations to the gene product of Scnn1a. (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.] Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 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 Scnn1a
  • participates in the following biological processes:
    • sodium ion transmembrane transport ^[1]
    • sodium ion transport ^[1]
  • performs the following molecular functions:
    • ligand-gated sodium channel activity ^[1]
    • sodium channel activity ^[4]
  • is located in the following cellular components:
    • external side of plasma membrane ^[3]
    • integral to membrane ^[1]
    • membrane ^[3]
• Researchers have inferred, based on physical interactions, that the gene product of Scnn1a
  • performs the following molecular functions:
    • WW domain binding ^[2]
• Researchers have inferred, based on genetic interactions, that the gene product of Scnn1a
  • participates in the following biological processes:
    • sodium ion transmembrane transport based on interactions with Scnn1b, Scnn1g ^[3]
    • sodium ion transport based on interactions with Scnn1b, Scnn1g ^{[3, 4]}
  • performs the following molecular functions:
    • ligand-gated sodium channel activity based on interactions with Scnn1b, Scnn1g ^[3]
  • is located in the following cellular components:
    • sodium channel complex based on interactions with Scnn1b, Scnn1g ^[3]

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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 Scnn1a:
  • participates in the following biological processes:
    • sodium ion transmembrane transport
    • sodium ion transport
  • performs the following molecular functions:
    • actin binding
    • ligand-gated sodium channel activity
    • WW domain binding
  • is located in the following cellular components:
    • apical plasma membrane
    • cortical actin cytoskeleton

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Scnn1a indicates that it:
  • participates in the following biological processes:
    • ion transport
    • response to stimulus
    • sensory perception of taste
    • transport
  • performs the following molecular functions:
    • ion channel activity
  • is located in the following cellular components:
    • plasma membrane

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References

1. Ahn YJ et al. (1999) Cloning and functional expression of the mouse epithelial sodium channel. Am J Physiol, 277:F121-9. (PubMed:10409305)
2. Harvey KF et al. (1999) All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+. J Biol Chem, 274:12525-30. (PubMed:10212229)
3. Lee IH et al. (2007) Akt mediates the effect of insulin on epithelial sodium channels by inhibiting Nedd4-2. J Biol Chem, 282:29866-73. (PubMed:17715136)
4. Wakida N et al. (2006) Inhibition of prostasin-induced ENaC activities by PN-1 and regulation of PN-1 expression by TGF-beta1 and aldosterone. Kidney Int, 70:1432-8. (PubMed:16941024)

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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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