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    Gjc1 gap junction protein, gamma 1 [ Mus musculus (house mouse) ]

    Gene ID: 14615, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Gjc1provided by MGI
    Official Full Name
    gap junction protein, gamma 1provided by MGI
    Primary source
    MGI:MGI:95718
    See related
    Ensembl:ENSMUSG00000034520 AllianceGenome:MGI:95718
    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
    Cx45; Cxnq; Gja7; Cnx45; Gja-7; C130009G16Rik
    Summary
    Enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling and ion channel activity. Involved in AV node cell to bundle of His cell communication by electrical coupling and gap junction assembly. Acts upstream of or within several processes, including chemical synaptic transmission; circulatory system development; and visual perception. Located in gap junction. Part of connexin complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Orthologous to human GJC1 (gap junction protein gamma 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 15.7), limb E14.5 (RPKM 10.7) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 E1; 11 66.48 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (102690303..102710512, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (102799477..102819686, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene DBF4 zinc finger B Neighboring gene proteasome (prosome, macropain) subunit, alpha type 1 pseudogene Neighboring gene a disintegrin and metallopeptidase domain 11 Neighboring gene predicted gene, 22683 Neighboring gene HIG1 domain family, member 1B

    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. Connexin45 colocalization patterns in the plexiform layers of the developing mouse retina. Hilgen G. J Anat, 2023 Aug. PMID 35315057, Free PMC Article
    2. Effects of Elevated Downstream Pressure and the Role of Smooth Muscle Cell Coupling through Connexin45 on Lymphatic Pacemaking. Castorena-Gonzalez JA, et al. Biomolecules, 2020 Oct 8. PMID 33050046, Free PMC Article
    3. Characterization of the connexin45 carboxyl-terminal domain structure and interactions with molecular partners. Kopanic JL, et al. Biophys J, 2014 May 20. PMID 24853747, Free PMC Article
    4. Connexin45 regulates endothelial-induced mesenchymal cell differentiation toward a mural cell phenotype. Fang JS, et al. Arterioscler Thromb Vasc Biol, 2013 Feb. PMID 23220276, Free PMC Article
    5. Connexin45 modulates the proliferation of transit-amplifying precursor cells in the mouse subventricular zone. Khodosevich K, et al. Proc Natl Acad Sci U S A, 2012 Dec 4. PMID 23169657, Free PMC Article

    See all (142) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Connexin45 colocalization patterns in the plexiform layers of the developing mouse retina.
      Title: Connexin45 colocalization patterns in the plexiform layers of the developing mouse retina.
    2. Effects of Elevated Downstream Pressure and the Role of Smooth Muscle Cell Coupling through Connexin45 on Lymphatic Pacemaking.
      Title: Effects of Elevated Downstream Pressure and the Role of Smooth Muscle Cell Coupling through Connexin45 on Lymphatic Pacemaking.
    3. Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
      Title: Myofibers deficient in connexins 43 and 45 expression protect mice from skeletal muscle and systemic dysfunction promoted by a dysferlin mutation.
    4. Cx45 is the connexin isoform mediating the entrainment of the contraction waves in lymphatic vessels.
      Title: Mechanisms of Connexin-Related Lymphedema.
    5. the levels of mRNAs encoding Connexin43 or Connexin45 were not or were only marginally affected, respectively, by Clmp deficiency, the absence of CLMP caused a severe reduction of both proteins in smooth muscle cells of the intestine and of Connexin43 in the ureter.
      Title: The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice.
    6. Punctate labelling of Cx45 was faint in the cerebellar cortex molecular layer of wild-type mice and was increased in intensity in mice with Cx36 gene ablation. The vast majority of Cx36-puncta co-localized with Cx45-puncta, which in turn was associated with the scaffolding protein zonula occludens-1.
      Title: Cx36, Cx43 and Cx45 in mouse and rat cerebellar cortex: species-specific expression, compensation in Cx36 null mice and co-localization in neurons vs. glia.
    7. Results indicate that pre- and peri-implantation development does not require connexin43 (Cx43) and connexin45 (Cx45).
      Title: Absence of connexin43 and connexin45 does not disturb pre- and peri-implantation development.
    8. These data indicate a fine regulation of the gap junction channel make-up in function of the type and the ratio of co-expressed connexins that specifically regulates chemical and electrical coupling.
      Title: Relating specific connexin co-expression ratio to connexon composition and gap junction function.
    9. connexin45 carboxyl-terminal domain structure and interactions with molecular partners
      Title: Characterization of the connexin45 carboxyl-terminal domain structure and interactions with molecular partners.
    10. The ablation of Cx45 reduced neuronal loss by approximately 50% under ischemic insult.
      Title: Gap junction-mediated death of retinal neurons is connexin and insult specific: a potential target for neuroprotection.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    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 channel activity involved in AV node cell-bundle of His cell electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables monoatomic ion channel activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in AV node cell to bundle of His cell communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    located_in endoplasmic reticulum 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 nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    gap junction gamma-1 protein
    Names
    connexin q
    connexin-45
    gap junction alpha-7 protein
    gap junction membrane channel protein alpha 7

    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_001159382.1 → NP_001152854.1  gap junction gamma-1 protein

      See identical proteins and their annotated locations for NP_001152854.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AL929067, BC050840
      Consensus CDS
      CCDS25504.1
      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Related
      ENSMUSP00000066901.6, ENSMUST00000068933.12
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    2. NM_001159383.1 → NP_001152855.1  gap junction gamma-1 protein

      See identical proteins and their annotated locations for NP_001152855.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AL929067, BC071230
      Consensus CDS
      CCDS25504.1
      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Related
      ENSMUSP00000090228.5, ENSMUST00000092567.11
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    3. NM_001359040.1 → NP_001345969.1  gap junction gamma-1 protein

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AL361625, AL929067, BC050840, BC071230, BX520052
      Consensus CDS
      CCDS25504.1
      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    4. NM_008122.3 → NP_032148.1  gap junction gamma-1 protein

      See identical proteins and their annotated locations for NP_032148.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.
      Source sequence(s)
      AL929067
      Consensus CDS
      CCDS25504.1
      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Related
      ENSMUSP00000102690.3, ENSMUST00000107075.9
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      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_000077.7 Reference GRCm39 C57BL/6J

      Range
      102690303..102710512 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248736.3 → XP_011247038.1  gap junction gamma-1 protein isoform X1

      See identical proteins and their annotated locations for XP_011247038.1

      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    2. XM_030245572.2 → XP_030101432.1  gap junction gamma-1 protein isoform X1

      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    3. XM_006532227.5 → XP_006532290.1  gap junction gamma-1 protein isoform X1

      See identical proteins and their annotated locations for XP_006532290.1

      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin

    4. XM_030245573.2 → XP_030101433.1  gap junction gamma-1 protein isoform X1

      UniProtKB/Swiss-Prot
      P28229
      UniProtKB/TrEMBL
      A0A654IER4
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 255
      Connexin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28229.1 GenPept UniProtKB/Swiss-Prot:P28229

    Gene LinkOut

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