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FLASH GENE
Symbol GJB1 contributors: mct/npt/shn/pgu - updated : 04-04-2019
HGNC name gap junction protein, beta 1, 32kDa
HGNC id 4283
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal internal entry site
  • four putative membrane spanning alpha helices, separating the N terminal intracellular domain
  • two extracellular loops
  • a C terminal intracellular domain, C-terminal domain that is likely not directly involved in the gating mechanism but acts as a modulator
  • and dileucine-like motifs in the C-terminal tail of GJB1 control its endocytosis and assembly into gap junctions
  • two targeting motifs at the N and C terminus
  • a calcium binding site
    • mono polymer hexamer
    HOMOLOGY
    interspecies ortholog to Gjb1, Rattus norvegicus
    ortholog to Gjb1, Mus musculus
    ortholog to GJB1, Pan troglodytes
    intraspecies homolog to GJB2
    Homologene
    FAMILY
  • connexin family
  • beta type subfamily
    • CATEGORY signaling , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • plays an important role in peripheral nerve
  • potentially inducing axonopathy in CMTX1
  • involved in the auditory pathway and in interactions axon Schwann cell with defective interaction
  • involved in the calcium regulation by connexin 32 hemichannel
  • plays roles in tumorigenesis and liver regeneration, and plays important roles in the maintenance of homeostasis in several tissue
  • may modulate the endothelial function associated with a number of cardiovascular diseases
  • protects endothelial cells from inflammation by regulating cytokine expression and plays an important role in the maintenance of vascular function
  • is a fundamental protein in the PNS as its dysfunction cannot be compensated by other mechanisms
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    text small molecule transport
    PATHWAY
    metabolism
    signaling
    a component
  • monomer constituent of the connexon (six subunits including GJA3, GJA8, GJB1, GJB2)
  • exists in a complex with DLG1 and CALM1
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • gap junction protein beta 2 26kDa, GJB2; gap junction protein alpha 3 46kDa, GJA3; gap junction protein alpha 5 40kDa, GJA5; gap junction protein alpha 8 50kDa, GJA8
  • occludin, OCLN
  • link between its expression and NRG1 regulation of Schwann cells proliferation that does not involve GJB1-mediated intercellular communication
  • GJA1-mediated GJB1 and SLC1A5 interaction play important functional roles in trophoblast cell fusion
    • cell & other
    REGULATION
    activated by SOX10 in synergy with EGR2
    Other phosphorylated by EGFR
  • phosphorylated by protein kinase A and protein kinase C
    • ASSOCIATED DISORDERS
    corresponding disease(s) CMTX1
    related resource The Connexin-deafness homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS