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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
Corresponding disease
CMTX1 Charcot-Marie-Tooth disease, type 1
Location Xq13.1      Physical location : 70.435.061 - 70.445.065
Synonym name
  • gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)
  • gap junction protein, beta 1, 32kDa (connexin 32)
  • Charcot-Marie-Tooth neuropathy, X-linked
  • connexin 32
  • GAP junction 28 kDa liver protein
  • Synonym symbol(s) CX32, CMTX, GJIC
    DNA
    TYPE functioning gene
    STRUCTURE 2.01 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure SOX10 binding sites and EGR2 binding sites
    MAPPING cloned Y linked N status confirmed
    Map cen - DXS8052 - DXS8052 - GJB1 - DXS8030 - DXS8101 - qter
    Physical map
    OBDPF Xq13.1 osteoblast differentiation promoting factor DLG3 Xq13.1 discs, large (Drosophila) homolog 3 (neuroendocrine-dlg) TEX11 Xq12-q13.1 testis expressed sequence 11 SLC7A3 Xq12 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 LOC392488 X similar to Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15) SNX12 Xq12-q13.1 sorting nexin 12 MLLT7 Xq13.1 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7 LOC158830 Xq13.1 similar to Ab2-183 IL2RG Xq12-q13.1 interleukin 2 receptor, gamma (severe combined immunodeficiency) TNRC11 Xq13 trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit) NLGN3 Xq13.1 neuroligin 3 GJB1 Xq13.1 gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) ZNF261 Xq13.1 zinc finger protein 261 NONO Xq13.1 non-POU domain containing, octamer-binding ITGB1BP2 Xq12.1-q13 integrin beta 1 binding protein (melusin) 2 LOC392489 X similar to ras homolog gene family, member G (rho G); RhoG TAF1 Xq13.1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ING2 Xq12 inhibitor of growth family, member 2 OGT Xq13 O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) ACRC Xq13.1 acidic repeat containing CXCR3 Xq13 chemokine (C-X-C motif) receptor 3 LOC158825 Xq13.1 hypothetical LOC158825 LOC389868 X LOC389868 LOC389869 X LOC389869 LOC389870 X LOC389870 LOC389871 X LOC389871 LOC286539 Xq13.1 similar to 40S ribosomal protein S26
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1623 - 283 - 2007 17644736
    2 - 1674 - 283 - 2007 17644736
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     intestinesmall intestine  highly
     liver   highly Homo sapiens
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly Homo sapiens
    Reproductivemale systemmale genital tractepididymis highly Homo sapiens
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentralwhite matter highly Homo sapiens
    Nervousperipherous  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    Cardiovascularendothelial cell
    Nervousoligodendrocyte Homo sapiens
    NervousSchawnn cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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