Search

Search for a specific protein in the Platelet Interactome


(Example: vasp)

 

Advanced Search

Get detailed protein information focusing on various characteristics and extract interaction networks

 

Legend

 

About

Go Back

Description for Protein CLCN1

chloride channel 1, skeletal muscle
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CBS: Domain in cystathionine beta-synthase and other proteins.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05010
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CLC1; ClC 1; Chloride channel, muscle; Chloride channel protein 1; Chloride channel 1, skeletal muscle; Chloride channel protein, skeletal muscle
    Approved Symbol:
    CLCN1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Myotonia congenita, autosomal dominant(Pd);
  • Myotonia congenita, autosomal recessive(Pd);
  • Myotonia Levior(Pd)
    		• Predicted Transmembrane Domains:
    00320_1(11)
    Additional Identifiers:

    HPRD: 00320 Entrez Gene ID: 1180 OMIM ID: 118425 Swissprot Accession: P35523;