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

Gene ID: 76743, updated on 30-Apr-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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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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