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    GJA1 gap junction protein, alpha 1, 43kDa [ Homo sapiens (human) ]

    Gene ID: 2697, updated on 26-Jul-2015
    Official Symbol
    GJA1provided by HGNC
    Official Full Name
    gap junction protein, alpha 1, 43kDaprovided by HGNC
    Primary source
    HGNC:HGNC:4274
    See related
    Ensembl:ENSG00000152661; HPRD:00414; MIM:121014; Vega:OTTHUMG00000015479
    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; HLHS1
    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]
    Orthologs
    See GJA1 in Epigenomics, MapViewer
    Location:
    6q22.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (121435577..121449744)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (121756745..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 transcription factor A, mitochondrial pseudogene Neighboring gene solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atrioventricular septal defect and common atrioventricular junction
    MedGen: C0344783 OMIM: 600309 GeneReviews: Not available
    Compare labs
    Craniometaphyseal dysplasia, autosomal recessive type
    MedGen: C1857496 OMIM: 218400 GeneReviews: Not available
    Compare labs
    Erythrokeratodermia variabilis
    MedGen: C0265961 OMIM: 133200 GeneReviews: Not available
    Compare labs
    Hypoplastic left heart syndrome
    MedGen: C0152101 OMIM: 241550 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

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA 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.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies multiple loci related to resting heart rate.
    NHGRI GWA Catalog
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    connexin binding IEA
    Inferred from Electronic Annotation
    more info
     
    gap junction channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gap junction channel activity involved in cardiac conduction electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    gap junction channel activity involved in cell communication by electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transducer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP transport IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    atrial cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    cell communication by electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell communication by electrical coupling involved in cardiac conduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    chronic inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    gap junction assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of wound healing IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell communication by chemical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glomerular filtration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    protein oligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bicellular tight junction assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to fluid shear stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    vascular transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    Golgi-associated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    connexon complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    early endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fascia adherens IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gap junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gap junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intercalated disc ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane raft ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    multivesicular body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    gap junction alpha-1 protein
    Names
    connexin 43
    connexin-43
    gap junction 43 kDa heart protein

    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
      4979..19146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000165.4NP_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
      P17302
      Related
      ENSP00000282561, OTTHUMP00000017111, ENST00000282561, OTTHUMT00000042023
      Conserved Domains (3) summary
      pfam00029
      Location:3101
      Connexin; Connexin
      pfam03508
      Location:293312
      Connexin43; Gap junction alpha-1 protein (Cx43)
      smart01089
      Location:165231
      Connexin_CCC; Gap junction channel protein cysteine-rich domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      121435577..121449744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      122020528..122034696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)