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

Gene ID: 14618, updated on 11-Apr-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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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
  • 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. Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4. Sun X, et al. Pharmacol Res, 2022 Feb. PMID 35051590
  2. Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1X. Klein D, et al. Exp Neurol, 2021 Sep. PMID 34153322
  3. Effects of Connexin 32-Mediated Lung Inflammation Resolution During Liver Ischemia Reperfusion. Zhang Z, et al. Dig Dis Sci, 2020 Oct. PMID 31900713
  4. Binding of α-synuclein oligomers to Cx32 facilitates protein uptake and transfer in neurons and oligodendrocytes. Reyes JF, et al. Acta Neuropathol, 2019 Jul. PMID 30976973, Free PMC Article
  5. Connexin32 plays a crucial role in ROS-mediated endoplasmic reticulum stress apoptosis signaling pathway in ischemia reperfusion-induced acute kidney injury. Gu Y, et al. J Transl Med, 2018 May 4. PMID 29728112, Free PMC Article

See all (207) 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 (61)

Variation

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Alleles

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

Pathways from PubChem

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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 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 purine ribonucleotide transport ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
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 ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
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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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

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