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    Gjb1 gap junction protein, beta 1 [ Mus musculus (house mouse) ]

    Gene ID: 14618, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gjb1provided by MGI
    Official Full Name
    gap junction protein, beta 1provided by MGI
    Primary source
    MGI:MGI:95719
    See related
    Ensembl:ENSMUSG00000047797 AllianceGenome:MGI:95719
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cx32; Cxng; Cnx32; connexin-32
    Summary
    This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014]
    Expression
    Biased expression in liver adult (RPKM 590.9), liver E18 (RPKM 193.1) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gjb1 in Genome Data Viewer
    Location:
    X D; X 44.06 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (100419982..100429235)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (101376376..101385629)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene neuroligin 3 Neighboring gene STARR-positive B cell enhancer ABC_E4298 Neighboring gene predicted gene, 31385 Neighboring gene STARR-seq mESC enhancer starr_47649 Neighboring gene zinc finger, MYM-type 3 Neighboring gene STARR-positive B cell enhancer ABC_E7703 Neighboring gene non-POU-domain-containing, octamer binding protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Calmodulin colocalizes with connexins and plays a direct role in gap junction channel gating. Sotkis A, et al. Cell Commun Adhes, 2001. PMID 12064602
    2. Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves. Freidin M, et al. Exp Neurol, 2015 Jan. PMID 25447941, Free PMC Article
    3. CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene. Mones S, et al. Front Neurosci, 2014. PMID 24982612, Free PMC Article
    4. Synchronized necrotic death of attached hepatocytes mediated via gap junctions. Saito C, et al. Sci Rep, 2014 Jun 4. PMID 24893927, Free PMC Article
    5. Myelination defects and neuronal hyperexcitability in the neocortex of connexin 32-deficient mice. Sutor B, et al. Cereb Cortex, 2000 Jul. PMID 10906315

    See all (217) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
      Title: Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
    2. Dual-regulation by Cx32 in hepatocyte to trigger and worsen liver graft injury.
      Title: Dual-regulation by Cx32 in hepatocyte to trigger and worsen liver graft injury.
    3. Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.
      Title: Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.
    4. Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.
      Title: Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.
    5. Connexin32 ameliorates renal fibrosis in diabetic mice by promoting K48-linked NADPH oxidase 4 polyubiquitination and degradation.
      Title: Connexin32 ameliorates renal fibrosis in diabetic mice by promoting K48-linked NADPH oxidase 4 polyubiquitination and degradation.
    6. Effects of Connexin 32-Mediated Lung Inflammation Resolution During Liver Ischemia Reperfusion.
      Title: Effects of Connexin 32-Mediated Lung Inflammation Resolution During Liver Ischemia Reperfusion.
    7. Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.
      Title: Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.
    8. suggestive of a link between connexin-32 and Parkinson's disease pathophysiology
      Title: Binding of α-synuclein oligomers to Cx32 facilitates protein uptake and transfer in neurons and oligodendrocytes.
    9. Cx32 mediated reactive oxygen species/endoplasmic reticulum stress/apoptosis signal pathway activation played an important part in Ischemia-reperfusion-induced acute kidney injury.
      Title: Connexin32 plays a crucial role in ROS-mediated endoplasmic reticulum stress apoptosis signaling pathway in ischemia reperfusion-induced acute kidney injury.
    10. This study demonstrated that loss of Cx32 promote inflammation and increase vulnerability of myelinated fibers, as shown in Cx32KO mice following EAE induction.
      Title: Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination.
    Submit: New GeneRIF Correction See all GeneRIFs (60)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC6217

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gap junction channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables gap junction channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epididymis development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine ribonucleotide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine ribonucleotide transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in gap junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in gap junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    gap junction beta-1 protein
    Names
    connexin 32
    connexin g
    connexin-43
    gap junction membrane channel protein beta 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302496.1 → NP_001289425.1  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_001289425.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
      Source sequence(s)
      AA423068, AI849881, AK134742, AL683892, BY087537
      Consensus CDS
      CCDS30314.1
      UniProtKB/Swiss-Prot
      P28230
      UniProtKB/TrEMBL
      A0A654IEJ3
      Related
      ENSMUSP00000113904.2, ENSMUST00000119080.8
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    2. NM_001302497.1 → NP_001289426.1  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_001289426.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
      Source sequence(s)
      AA423068, AI849881, AK134742, AL683892, BE862747, BY087537
      Consensus CDS
      CCDS30314.1
      UniProtKB/Swiss-Prot
      P28230
      UniProtKB/TrEMBL
      A0A654IEJ3
      Related
      ENSMUSP00000113516.2, ENSMUST00000119190.2
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    3. NM_001302498.1 → NP_001289427.1  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_001289427.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
      Source sequence(s)
      AA423068, AI849881, AK134742, AL683892, BY087537, X84215
      Consensus CDS
      CCDS30314.1
      UniProtKB/Swiss-Prot
      P28230
      UniProtKB/TrEMBL
      A0A654IEJ3
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    4. NM_008124.3 → NP_032150.2  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_032150.2

      Status: REVIEWED

      Source sequence(s)
      AA423068, AI849881, AK134742, AL683892, BY087537, BY105229
      Consensus CDS
      CCDS30314.1
      UniProtKB/Swiss-Prot
      P28230
      UniProtKB/TrEMBL
      A0A654IEJ3
      Related
      ENSMUSP00000062723.8, ENSMUST00000052130.14
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      100419982..100429235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251227.2 → XP_030107087.1  gap junction beta-1 protein isoform X1

      UniProtKB/Swiss-Prot
      P28230
      UniProtKB/TrEMBL
      A0A654IEJ3
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28230.3 GenPept UniProtKB/Swiss-Prot:P28230

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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