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Description for Protein GJB1

gap junction protein, beta 1, 32kDa
8 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07620
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Gap junction protein beta 1; Cx32; Gap junction protein, 32-KD; Gap junction protein, beta-1, 32kD; GAP junction 28 kDa liver protein; Liver connexin
    Approved Symbol:
    GJB1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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:

  • Charcot-Marie-tooth disease, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 4
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 02367 Entrez Gene ID: 2705 OMIM ID: 304040 Swissprot Accession: P08034;