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    Gja3 gap junction protein, alpha 3 [ Mus musculus (house mouse) ]

    Gene ID: 14611, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Gja3provided by MGI
    Official Full Name
    gap junction protein, alpha 3provided by MGI
    Primary source
    MGI:MGI:95714
    See related
    Ensembl:ENSMUSG00000048582 AllianceGenome:MGI:95714
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cx43; Cx46; Cnx46; Cxnj1; Gja-3
    Summary
    Predicted to enable gap junction hemi-channel activity and identical protein binding activity. Predicted to be involved in several processes, including gap junction-mediated intercellular transport; response to hydrogen peroxide; and response to pH. Located in gap junction and plasma membrane. Is expressed in lens; metanephros; and testis. Used to study cataract 14 multiple types. Human ortholog(s) of this gene implicated in cataract 14 multiple types. Orthologous to human GJA3 (gap junction protein alpha 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in heart adult (RPKM 6.5) and limb E14.5 (RPKM 0.9) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    14 C3; 14 29.82 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (57271917..57295487, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (57034460..57058030, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36789 Neighboring gene RIKEN cDNA B020004C17 gene Neighboring gene gap junction protein, beta 2 Neighboring gene predicted gene, 32912 Neighboring gene predicted gene 4491

    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. Quantitative X-ray tomographic analysis reveals calcium precipitation in cataractogenesis. Li Y, et al. Sci Rep, 2021 Aug 31. PMID 34465795, Free PMC Article
    2. Physiological and Optical Alterations Precede the Appearance of Cataracts in Cx46fs380 Mice. Minogue PJ, et al. Invest Ophthalmol Vis Sci, 2017 Aug 1. PMID 28810266, Free PMC Article
    3. Connexin 46 (cx46) gap junctions provide a pathway for the delivery of glutathione to the lens nucleus. Slavi N, et al. J Biol Chem, 2014 Nov 21. PMID 25294879, Free PMC Article
    4. Global gene expression analysis of lenses from different mouse strains and in the alpha3Cx46 knockout mouse. Tang Y, et al. Mol Vis, 2010 Jan 27. PMID 20104256, Free PMC Article
    5. Transient decrease in gap junction expression during compensatory renal growth in mice. Li S, et al. Urology, 2002 Oct. PMID 12385951

    See all (70) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
      Title: Levels and Modifications of Both Lens Fiber Cell Connexins Are Affected in Connexin Mutant Mice.
    2. Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
      Title: Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens?
    3. that expression and phosphorylation of connexin 46 and connexin 45 are complementary in seminiferous tubules
      Title: Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes.
    4. The localization and sizes of Cx50 gap junction plaques in DKO fibers were unaffected, suggesting that Cx46 and Cx50 form homomeric channels
      Title: Lens ion homeostasis relies on the assembly and/or stability of large connexin 46 gap junction plaques on the broad sides of differentiating fiber cells.
    5. Data indicate that connexin 46 (cx46) is essential for the maintenance of adequate levels of glutathione (GSH) in the lens nucleus.
      Title: Connexin 46 (cx46) gap junctions provide a pathway for the delivery of glutathione to the lens nucleus.
    6. Cx46 was severely reduced in both heterozygous and homozygous Cx46fs380 lenses at 1 month of age, whereas immunoreactive connexin50 (Cx50) was moderately decreased.
      Title: Connexin46fs380 causes progressive cataracts.
    7. Results suggest that Cx46 hemichannels may contribute to the sodium leak conductance in lens fiber cells.
      Title: Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells.
    8. Data show that Ca(V) 1.2 and 1.3 channels are expressed in lens, regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins 50 and 46.
      Title: L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins.
    9. These results provide further evidence that Cx43 and Cx46 form both heterotypic and heteromeric channels when co-expressed.
      Title: Functional analysis of hemichannels and gap-junctional channels formed by connexins 43 and 46.
    10. There were no observed changes in gene expression as a result of the lack of alpha3Cx46 in the different mouse strains.
      Title: Global gene expression analysis of lenses from different mouse strains and in the alpha3Cx46 knockout mouse.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    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 gap junction hemi-channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 gap junction-mediated intercellular transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to hydrogen peroxide ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to pH ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    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
    		  
    part_of connexin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    gap junction alpha-3 protein
    Names
    alpha 3 connexin
    connexin j1
    connexin-46
    gap junction membrane channel protein alpha 3

    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_001271623.1 → NP_001258552.1  gap junction alpha-3 protein

      See identical proteins and their annotated locations for NP_001258552.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC119952, AK136383, BC138492, BM125285, BQ554641
      Consensus CDS
      CCDS27152.1
      UniProtKB/Swiss-Prot
      B2RRM1, Q64448
      UniProtKB/TrEMBL
      A0A654ICY8
      Conserved Domains (1) summary
      pfam00029
      Location:3 → 233
      Connexin

    2. NM_016975.3 → NP_058671.2  gap junction alpha-3 protein

      See identical proteins and their annotated locations for NP_058671.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK136383, BC138492, BM125285
      Consensus CDS
      CCDS27152.1
      UniProtKB/Swiss-Prot
      B2RRM1, Q64448
      UniProtKB/TrEMBL
      A0A654ICY8
      Related
      ENSMUSP00000059587.7, ENSMUST00000061614.8
      Conserved Domains (1) summary
      pfam00029
      Location:3 → 233
      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_000080.7 Reference GRCm39 C57BL/6J

      Range
      57271917..57295487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244959.1 → XP_011243261.1  gap junction alpha-3 protein isoform X1

      See identical proteins and their annotated locations for XP_011243261.1

      UniProtKB/Swiss-Prot
      B2RRM1, Q64448
      UniProtKB/TrEMBL
      A0A654ICY8
      Conserved Domains (1) summary
      pfam00029
      Location:3 → 233
      Connexin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q64448.4 GenPept UniProtKB/Swiss-Prot:Q64448

    Gene LinkOut

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

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