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

GO curators for mouse genes have assigned the following annotations to the gene product of Clcn1. (This text reflects annotations as of Wednesday, January 23, 2013.)

---

Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

---

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

• Researchers have inferred from direct assay, that the gene product of Clcn1
  • is located in the following cellular components:
    • sarcolemma ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Clcn1
  • participates in the following biological processes:
    • chloride transport ^[2]
    • neuronal action potential propagation ^[2]

---

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 Clcn1:
  • participates in the following biological processes:
    • chloride transport
  • performs the following molecular functions:
    • voltage-gated chloride channel activity

---

Summary text based on GO annotations supported by structural data

• Clcn1 encodes a protein or proteins that contain the following InterPro domains: Chloride channel ClC-1, Chloride channel, core, Chloride channel, voltage gated, Cystathionine beta-synthase, core, indicating that the gene product:
  • participates in the following biological processes:
    • ion transmembrane transport
    • transmembrane transport
  • performs the following molecular functions:
    • ion channel activity
  • is located in the following cellular components:
    • membrane

---

Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Clcn1 indicates that it:
  • participates in the following biological processes:
    • ion transmembrane transport
    • ion transport
    • regulation of ion transmembrane transport
    • transport
  • performs the following molecular functions:
    • chloride channel activity
    • ion channel activity
    • voltage-gated ion channel activity
  • is located in the following cellular components:
    • chloride channel complex
    • integral to membrane
    • membrane

---

References

1. Gurnett CA et al. (1995) Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. J Biol Chem, 270:9035-8. (PubMed:7721815)
2. Mehrke G et al. (1988) The myotonic mouse mutant ADR: electrophysiology of the muscle fiber. Muscle Nerve, 11:440-6. (PubMed:2453798)

---

---

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

---