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    GJE1 gap junction protein epsilon 1 [ Homo sapiens (human) ]

    Gene ID: 100126572, updated on 17-Jun-2024

    Summary

    Official Symbol
    GJE1provided by HGNC
    Official Full Name
    gap junction protein epsilon 1provided by HGNC
    Primary source
    HGNC:HGNC:33251
    See related
    Ensembl:ENSG00000203733 AllianceGenome:HGNC:33251
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CX23
    Summary
    Predicted to enable gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to act upstream of or within cell morphogenesis; lens development in camera-type eye; and organ growth. Predicted to be integral component of membrane. Predicted to be part of connexin complex. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
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    Genomic context

    See GJE1 in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142132925..142135358)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (143325015..143327448)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (142454062..142456495)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378031 Neighboring gene MPRA-validated peak6169 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142335462-142336126 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142336127-142336790 Neighboring gene uncharacterized LOC107986654 Neighboring gene MPRA-validated peak6171 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142409105-142409658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142409659-142410210 Neighboring gene neuromedin B receptor Neighboring gene Sharpr-MPRA regulatory region 1984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:142468581-142469101 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142476776-142477403 Neighboring gene vesicle trafficking 1 Neighboring gene Sharpr-MPRA regulatory region 15423 Neighboring gene long intergenic non-protein coding RNA 2919

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    General gene information

    Gene Ontology Provided by GOA

    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 morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    putative gap junction epsilon-1 protein
    Names
    connexin-23
    gap junction protein, epsilon 1, 23kDa

    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_001358410.2NP_001345339.1  putative gap junction epsilon-1 protein

      Status: INFERRED

      Source sequence(s)
      AL033522
      Consensus CDS
      CCDS87449.1
      UniProtKB/Swiss-Prot
      A6NN92
      UniProtKB/TrEMBL
      A0A654IE96
      Related
      ENSP00000455469.1, ENST00000450456.3
      Conserved Domains (1) summary
      pfam00029
      Location:18196
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      142132925..142135358
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      143325015..143327448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_033968.1: Suppressed sequence

      Description
      NG_033968.1: This RefSeq was removed because it is now thought that this gene encodes a protein.