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

Gene ID: 100126572, updated on 22-Sep-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142132925..142135358)
110 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 uncharacterized LOC107986654 Neighboring gene neuromedin B receptor Neighboring gene Sharpr-MPRA regulatory region 1984 Neighboring gene vesicle trafficking 1 Neighboring gene Sharpr-MPRA regulatory region 15423

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

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
part_of connexin complex IEA
Inferred from Electronic Annotation
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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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.