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    Gje1 gap junction protein, epsilon 1 [ Mus musculus (house mouse) ]

    Gene ID: 76743, updated on 8-May-2024

    Summary

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    Official Symbol
    Gje1provided by MGI
    Official Full Name
    gap junction protein, epsilon 1provided by MGI
    Primary source
    MGI:MGI:1923993
    See related
    Ensembl:ENSMUSG00000019867 AllianceGenome:MGI:1923993
    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
    Cx23; Cxnt; Gjf1; AEY12; Gsfaey12; D230044M03Rik
    Summary
    Predicted to enable gap junction channel activity. Acts upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be part of connexin complex. Is expressed in lens; lens epithelium; lens equatorial epithelium; lens vesicle; and retina. Orthologous to human GJE1 (gap junction protein epsilon 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    See Gje1 in Genome Data Viewer
    Location:
    10 A2; 10 5.5 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (14591365..14593958, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (14715626..14718214, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene adhesion G protein-coupled receptor G6 Neighboring gene STARR-seq mESC enhancer starr_25830 Neighboring gene STARR-seq mESC enhancer starr_25831 Neighboring gene ribosomal protein L23A pseudogene Neighboring gene STARR-seq mESC enhancer starr_25832 Neighboring gene STARR-seq mESC enhancer starr_25835 Neighboring gene STARR-seq mESC enhancer starr_25837 Neighboring gene predicted gene, 57851 Neighboring gene vesicle (multivesicular body) trafficking 1 Neighboring gene STARR-seq mESC enhancer starr_25839 Neighboring gene RIKEN cDNA 1700016L04 gene Neighboring gene STARR-positive B cell enhancer mm9_chr10:14425245-14425545 Neighboring gene heat shock protein 8 pseudogene Neighboring gene neuromedin B receptor

    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. Connexin23 deletion does not affect lens transparency. Berthoud VM, et al. Exp Eye Res, 2016 May. PMID 27038752, Free PMC Article
    2. Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Puk O, et al. Invest Ophthalmol Vis Sci, 2008 Apr. PMID 18385072
    3. iSyTE: integrated Systems Tool for Eye gene discovery. Lachke SA, et al. Invest Ophthalmol Vis Sci, 2012 Mar. PMID 22323457, Free PMC Article
    4. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073
    5. High-efficiency full-length cDNA cloning. Carninci P, et al. Methods Enzymol, 1999. PMID 10349636

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 
    • Targeted (3)  1 citation

    General gene information

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    Markers

    Readthrough Gm57851

    Readthrough gene: Gm57851, Included gene: Vta1

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell communication IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell morphogenesis 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 lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within organ growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gap junction epsilon-1 protein
    Names
    connexin 23
    connexin t
    putative gap junction protein connexin Cx43.4

    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_001405828.1 → NP_001392757.1  gap junction epsilon-1 protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC159336

    2. NM_001405829.1 → NP_001392758.1  gap junction epsilon-1 protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159336

    3. NM_001405830.1 → NP_001392759.1  gap junction epsilon-1 protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC159336

    4. NM_029722.3 → NP_083998.1  gap junction epsilon-1 protein isoform 2

      See identical proteins and their annotated locations for NP_083998.1

      Status: VALIDATED

      Source sequence(s)
      AC159336
      Consensus CDS
      CCDS48505.1
      UniProtKB/Swiss-Prot
      Q9CX92
      UniProtKB/TrEMBL
      A0A654ID00
      Related
      ENSMUSP00000020016.5, ENSMUST00000020016.5
      Conserved Domains (2) summary
      smart01089
      Location:125 → 194
      Connexin_CCC; Gap junction channel protein cysteine-rich domain
      pfam00029
      Location:18 → 196
      Connexin; Connexin

    RNA

    1. NR_175971.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159336

    2. NR_175972.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC159336

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      14591365..14593958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CX92.1 GenPept UniProtKB/Swiss-Prot:Q9CX92

    Gene LinkOut

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

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