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FLASH GENE
Symbol GJB1 contributors: mct/npt/shn/pgu - updated : 08-02-2010
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
  • Synonym symbol(s) CX32, CMTX
    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    
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Respiratorylung   highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Nervouscentralwhite matter  
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic
    Cardiovascularendothelial cell
    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
  • 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
  • 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
  • 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