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Description for Protein GLRB

glycine receptor, beta
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K05196
    KEGG - Pathway(s):
    hsa04080
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Glycine receptor beta subunit
    Approved Symbol:
    GLRB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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):

  • Glycine(db);
  • Lindane(db)

    Associated Genetic Diseases:

  • Hyperekplexia, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 11751 Entrez Gene ID: 2743 OMIM ID: 138492 Swissprot Accession: P48167;