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    GJA1 gap junction protein alpha 1 [ Homo sapiens (human) ]

    Gene ID: 2697, updated on 9-Jun-2024

    Summary

    Official Symbol
    GJA1provided by HGNC
    Official Full Name
    gap junction protein alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:4274
    See related
    Ensembl:ENSG00000152661 MIM:121014; AllianceGenome:HGNC:4274
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA
    Summary
    This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
    Expression
    Broad expression in skin (RPKM 198.8), adrenal (RPKM 176.9) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJA1 in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (121435646..121449727)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (122622700..122636781)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121756792..121770873)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S15a pseudogene 21 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 29 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89339 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:121751780-121752762 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:121759052-121759929 Neighboring gene uncharacterized LOC124901515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:121768314-121768814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:121768815-121769315 Neighboring gene RNA, U4 small nuclear 35, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89387 Neighboring gene transcription factor A, mitochondrial pseudogene

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal dominant palmoplantar keratoderma and congenital alopecia
    MedGen: C4304669 OMIM: 104100 GeneReviews: Not available
    Compare labs
    Craniometaphyseal dysplasia, autosomal recessive
    MedGen: C2931244 OMIM: 218400 GeneReviews: Not available
    Compare labs
    Erythrokeratodermia variabilis et progressiva 3
    MedGen: C4479619 OMIM: 617525 GeneReviews: Not available
    Compare labs
    Oculodentodigital dysplasia
    MedGen: C0812437 OMIM: 164200 GeneReviews: Not available
    Compare labs
    Oculodentodigital dysplasia, autosomal recessive
    MedGen: C2749477 OMIM: 257850 GeneReviews: Not available
    Compare labs
    Syndactyly type 3
    MedGen: C1861366 OMIM: 186100 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2013-11-20)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2013-11-20)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.
    EBI GWAS Catalog
    Genome-wide association analysis identifies multiple loci related to resting heart rate.
    EBI GWAS Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the expression of GJA1 (Cx43) by binding the promoter of Cx43 in human astrocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables efflux transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gap junction channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction channel activity involved in cardiac conduction electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables gap junction channel activity involved in cell communication by electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction hemi-channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables glutathione transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    enables monoatomic ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables scaffold protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adult heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrial cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in atrial ventricular junction remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bone remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac conduction system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell communication by chemical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell communication by electrical coupling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell communication by electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell communication by electrical coupling involved in cardiac conduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to amyloid-beta ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cellular response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in columnar/cuboidal epithelial cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in gap junction assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glutamate secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in glutathione transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in milk ejection reflex IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gonadotropin secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of trophoblast cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    acts_upstream_of positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mesodermal cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of morphogenesis of an epithelium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of positive regulation of vascular associated smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of ventricular cardiac muscle cell membrane repolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in xenobiotic transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell contact zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of connexin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in contractile muscle fiber IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in gap junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in gap junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    gap junction alpha-1 protein
    Names
    connexin-43
    gap junction 43 kDa heart protein
    gap junction protein, alpha 1, 43kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008308.1 RefSeqGene

      Range
      5048..19129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1289

    mRNA and Protein(s)

    1. NM_000165.5NP_000156.1  gap junction alpha-1 protein

      See identical proteins and their annotated locations for NP_000156.1

      Status: REVIEWED

      Source sequence(s)
      AL139098, AW664595, BC026329, BP226987
      Consensus CDS
      CCDS5123.1
      UniProtKB/Swiss-Prot
      B2R5U9, P17302, Q6FHU1, Q9Y5I8
      UniProtKB/TrEMBL
      A0A654IBU3, Q53FJ6
      Related
      ENSP00000282561.3, ENST00000282561.4
      Conserved Domains (2) summary
      pfam00029
      Location:3233
      Connexin
      pfam03508
      Location:293312
      Connexin43; Gap junction alpha-1 protein (Cx43)

    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
      121435646..121449727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      122622700..122636781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)