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    Gja1 gap junction protein, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 14609, updated on 10-Dec-2024

    Summary

    Official Symbol
    Gja1provided by MGI
    Official Full Name
    gap junction protein, alpha 1provided by MGI
    Primary source
    MGI:MGI:95713
    See related
    Ensembl:ENSMUSG00000050953 AllianceGenome:MGI:95713
    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
    Cx43; Npm1; Cnx43; Cxnk1; Gja-1; Cx43alpha1; connexin43
    Summary
    Enables several functions, including beta-tubulin binding activity; glutathione transmembrane transporter activity; and scaffold protein binding activity. Involved in several processes, including cellular response to amyloid-beta; glutamate secretion; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cell communication by chemical coupling; circulatory system development; and regulation of gene expression. Located in several cellular components, including fascia adherens; gap junction; and lateral plasma membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; genitourinary system; heart and pericardium; and sensory organ. Used to study oculodentodigital dysplasia. Human ortholog(s) of this gene implicated in several diseases, including bone disease (multiple); erythrokeratodermia variabilis (multiple); hypoplastic left heart syndrome; oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in ovary adult (RPKM 68.8), heart adult (RPKM 61.3) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gja1 in Genome Data Viewer
    Location:
    10 B4; 10 28.64 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (56253297..56266519)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (56377300..56390419)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene TBC1 domain family, member 32 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:55826518-55826701 Neighboring gene MSL3 like 2 Neighboring gene UPF0183 protein C16orf70 homolog Neighboring gene STARR-positive B cell enhancer ABC_E8334 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:55948756-55948865 Neighboring gene STARR-seq mESC enhancer starr_26724 Neighboring gene STARR-seq mESC enhancer starr_26725 Neighboring gene STARR-seq mESC enhancer starr_26726 Neighboring gene STARR-seq mESC enhancer starr_26730 Neighboring gene ribosomal protein S8, pseudogene 1 Neighboring gene STARR-seq mESC enhancer starr_26731 Neighboring gene STARR-seq mESC enhancer starr_26732 Neighboring gene STARR-seq mESC enhancer starr_26734 Neighboring gene predicted gene, 36460 Neighboring gene predicted gene, 36517

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 31
    Function Evidence Code Pubs
    enables PDZ domain binding  
    enables PDZ domain binding  
    enables SH3 domain binding  
    enables SH3 domain binding  
    enables alpha-tubulin binding  
    enables beta-catenin binding  
    enables beta-catenin binding  
    enables beta-tubulin binding PubMed 
    enables connexin binding  
    enables connexin binding  
    enables disordered domain specific binding  
    enables disordered domain specific binding  
    enables efflux transmembrane transporter activity PubMed 
    enables gap junction channel activity  
    enables gap junction channel activity PubMed 
    enables gap junction channel activity PubMed 
    enables gap junction channel activity  
    enables gap junction channel activity involved in cardiac conduction electrical coupling PubMed 
    enables gap junction channel activity involved in cell communication by electrical coupling  
    enables gap junction hemi-channel activity  
    enables gap junction hemi-channel activity  
    enables glutathione transmembrane transporter activity PubMed 
    enables monoatomic ion transmembrane transporter activity  
    enables monoatomic ion transmembrane transporter activity  
    enables protein binding PubMed 
    enables protein domain specific binding  
    enables protein tyrosine kinase binding PubMed 
    enables scaffold protein binding PubMed 
    enables signaling receptor binding PubMed 
    enables tubulin binding  
    enables tubulin binding  
    Items 1 - 25 of 31
    Items 1 - 25 of 140
    Process Evidence Code Pubs
    involved_in ATP transport  
    involved_in ATP transport  
    involved_in T cell activation PubMed 
    involved_in T cell proliferation PubMed 
    acts_upstream_of_or_within adult heart development PubMed 
    acts_upstream_of_or_within atrial ventricular junction remodeling PubMed 
    acts_upstream_of_or_within blood vessel morphogenesis PubMed 
    involved_in bone development PubMed 
    involved_in bone remodeling PubMed 
    acts_upstream_of_or_within cardiac conduction PubMed 
    acts_upstream_of_or_within cell communication by chemical coupling PubMed 
    involved_in cell communication by electrical coupling  
    acts_upstream_of_or_within cell communication by electrical coupling PubMed 
    involved_in cell communication by electrical coupling  
    involved_in cell communication by electrical coupling involved in cardiac conduction  
    acts_upstream_of_or_within cell-cell junction organization PubMed 
    involved_in cell-cell signaling  
    acts_upstream_of_or_within cell-cell signaling PubMed 
    involved_in cell-cell signaling  
    involved_in cellular response to amyloid-beta PubMed 
    involved_in cellular response to mechanical stimulus  
    involved_in cellular response to pH PubMed 
    involved_in cellular response to parathyroid hormone stimulus  
    involved_in chronic inflammatory response  
    involved_in chronic inflammatory response  
    acts_upstream_of_or_within columnar/cuboidal epithelial cell maturation PubMed 
    involved_in decidualization  
    acts_upstream_of_or_within embryonic digit morphogenesis PubMed 
    acts_upstream_of_or_within embryonic heart tube development PubMed 
    involved_in endothelium development  
    involved_in epicardial cell to mesenchymal cell transition PubMed 
    involved_in epididymis development  
    involved_in establishment of epithelial cell polarity PubMed 
    involved_in establishment of mitotic spindle orientation  
    involved_in establishment of mitotic spindle orientation  
    involved_in export across plasma membrane PubMed 
    involved_in glutamate secretion PubMed 
    involved_in glutathione transmembrane transport  
    involved_in heart development  
    acts_upstream_of_or_within heart development PubMed 
    involved_in heart development PubMed 
    acts_upstream_of_or_within heart looping PubMed 
    acts_upstream_of_or_within in utero embryonic development PubMed 
    acts_upstream_of_or_within lens development in camera-type eye PubMed 
    involved_in maintenance of protein localization in endoplasmic reticulum  
    involved_in maintenance of protein localization in endoplasmic reticulum  
    involved_in male gonad development PubMed 
    involved_in microtubule-based transport  
    involved_in microtubule-based transport  
    acts_upstream_of_or_within milk ejection reflex PubMed 
    involved_in monoatomic ion transmembrane transport  
    involved_in monoatomic ion transmembrane transport  
    involved_in negative regulation of DNA biosynthetic process  
    involved_in negative regulation of DNA biosynthetic process  
    involved_in negative regulation of cardiac muscle cell proliferation  
    involved_in negative regulation of cardiac muscle cell proliferation  
    involved_in negative regulation of cell growth PubMed 
    involved_in negative regulation of cell growth  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of endothelial cell proliferation  
    involved_in negative regulation of endothelial cell proliferation  
    acts_upstream_of_or_within negative regulation of gene expression PubMed 
    involved_in negative regulation of gonadotropin secretion  
    involved_in negative regulation of gonadotropin secretion  
    involved_in negative regulation of trophoblast cell migration  
    involved_in negative regulation of trophoblast cell migration  
    acts_upstream_of_or_within neuroblast migration PubMed 
    acts_upstream_of_or_within neuron migration PubMed 
    involved_in neuron projection morphogenesis  
    involved_in neuron projection morphogenesis  
    acts_upstream_of_or_within osteoblast differentiation PubMed 
    involved_in positive regulation of behavioral fear response  
    involved_in positive regulation of behavioral fear response  
    involved_in positive regulation of cell communication by chemical coupling  
    involved_in positive regulation of cell communication by chemical coupling  
    involved_in positive regulation of cold-induced thermogenesis PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of establishment of Sertoli cell barrier  
    involved_in positive regulation of establishment of Sertoli cell barrier  
    acts_upstream_of_or_within positive regulation of gene expression PubMed 
    acts_upstream_of positive regulation of gene expression  
    involved_in positive regulation of glomerular filtration  
    involved_in positive regulation of glomerular filtration  
    involved_in positive regulation of insulin secretion  
    involved_in positive regulation of insulin secretion  
    involved_in positive regulation of meiotic nuclear division  
    involved_in positive regulation of meiotic nuclear division  
    involved_in positive regulation of mesodermal cell differentiation  
    involved_in positive regulation of mesodermal cell differentiation  
    involved_in positive regulation of morphogenesis of an epithelium  
    involved_in positive regulation of morphogenesis of an epithelium  
    involved_in positive regulation of protein catabolic process  
    involved_in positive regulation of protein catabolic process  
    involved_in positive regulation of stem cell proliferation  
    involved_in positive regulation of stem cell proliferation  
    acts_upstream_of_or_within positive regulation of striated muscle tissue development PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    acts_upstream_of positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in positive regulation of vasoconstriction  
    involved_in positive regulation of vasoconstriction  
    involved_in protein localization  
    involved_in regulation of actin filament organization  
    involved_in regulation of actin filament organization  
    involved_in regulation of apoptotic process  
    involved_in regulation of apoptotic process  
    acts_upstream_of_or_within regulation of atrial cardiac muscle cell membrane depolarization PubMed 
    involved_in regulation of bicellular tight junction assembly  
    involved_in regulation of bicellular tight junction assembly  
    involved_in regulation of blood vessel remodeling PubMed 
    acts_upstream_of_or_within regulation of bone mineralization PubMed 
    acts_upstream_of_or_within regulation of bone remodeling PubMed 
    involved_in regulation of calcium ion transport  
    involved_in regulation of calcium ion transport  
    involved_in regulation of cell communication by electrical coupling  
    involved_in regulation of cell communication by electrical coupling  
    acts_upstream_of_or_within regulation of heart contraction PubMed 
    acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization PubMed 
    acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization PubMed 
    acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization PubMed 
    acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization PubMed 
    involved_in response to estradiol  
    involved_in response to fluid shear stress  
    involved_in response to glucose  
    involved_in response to ischemia  
    involved_in response to lipopolysaccharide  
    involved_in response to pH  
    involved_in response to peptide hormone  
    involved_in response to retinoic acid  
    involved_in signal transduction  
    involved_in signal transduction  
    acts_upstream_of_or_within skeletal muscle tissue regeneration PubMed 
    involved_in spermatogenesis PubMed 
    involved_in spermatogenesis  
    involved_in transmembrane transport  
    involved_in vascular transport  
    involved_in vascular transport  
    involved_in vasodilation  
    involved_in vasodilation  
    involved_in xenobiotic transport PubMed 
    Items 1 - 25 of 140
    Items 1 - 20 of 46
    Component Evidence Code Pubs
    located_in Golgi apparatus PubMed 
    located_in Golgi apparatus  
    located_in apical plasma membrane PubMed 
    located_in cell junction PubMed 
    located_in cell junction  
    located_in cell-cell contact zone  
    located_in cell-cell junction PubMed 
    part_of connexin complex  
    part_of connexin complex  
    part_of connexin complex  
    located_in contractile muscle fiber PubMed 
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytosol PubMed 
    located_in early endosome  
    located_in early endosome  
    located_in endoplasmic reticulum  
    located_in endosome  
    located_in fascia adherens PubMed 
    located_in fascia adherens  
    located_in gap junction PubMed 
    located_in gap junction  
    located_in intercalated disc PubMed 
    located_in intercalated disc  
    located_in intermediate filament PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in late endosome  
    located_in lateral plasma membrane PubMed 
    located_in membrane PubMed 
    located_in membrane PubMed 
    located_in membrane raft  
    located_in membrane raft  
    located_in mitochondrial outer membrane  
    located_in mitochondrial outer membrane  
    located_in mitochondrion  
    located_in mitochondrion  
    located_in multivesicular body  
    located_in multivesicular body  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in nucleus  
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    part_of protein-containing complex  
    located_in tight junction  
    located_in tight junction  
    Items 1 - 20 of 46

    General protein information

    Preferred Names
    gap junction alpha-1 protein
    Names
    alpha 1 connexin
    connexin k1
    connexin-43
    gap junction 43 kDa heart protein
    gap junction membrane channel protein alpha 1

    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.

    mRNA and Protein(s)

    1. NM_001428498.1NP_001415427.1  gap junction alpha-1 protein

      Status: VALIDATED

      Source sequence(s)
      AC152949
      UniProtKB/Swiss-Prot
      P23242, Q544I7, Q8CE05
      UniProtKB/TrEMBL
      A0A654ICD2, Q7TMQ1
    2. NM_001428499.1NP_001415428.1  gap junction alpha-1 protein

      Status: VALIDATED

      Source sequence(s)
      AC152949
      UniProtKB/Swiss-Prot
      P23242, Q544I7, Q8CE05
      UniProtKB/TrEMBL
      A0A654ICD2, Q7TMQ1
    3. NM_001428500.1NP_001415429.1  gap junction alpha-1 protein

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. All five variants encode the same protein.
      Source sequence(s)
      AC152949
      UniProtKB/Swiss-Prot
      P23242, Q544I7, Q8CE05
      UniProtKB/TrEMBL
      A0A654ICD2, Q7TMQ1
    4. NM_001428501.1NP_001415430.1  gap junction alpha-1 protein

      Status: VALIDATED

      Source sequence(s)
      AC152949
      UniProtKB/Swiss-Prot
      P23242, Q544I7, Q8CE05
      UniProtKB/TrEMBL
      A0A654ICD2, Q7TMQ1
    5. NM_010288.4NP_034418.1  gap junction alpha-1 protein

      See identical proteins and their annotated locations for NP_034418.1

      Status: VALIDATED

      Source sequence(s)
      AC152949
      Consensus CDS
      CCDS23851.1
      UniProtKB/Swiss-Prot
      P23242, Q544I7, Q8CE05
      UniProtKB/TrEMBL
      A0A654ICD2, Q7TMQ1
      Related
      ENSMUSP00000064536.8, ENSMUST00000068581.9
      Conserved Domains (2) summary
      pfam00029
      Location:3233
      Connexin
      pfam03508
      Location:293312
      Connexin43; Gap junction alpha-1 protein (Cx43)

    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
      56253297..56266519
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155617.1XP_036011510.1  gap junction alpha-1 protein isoform X1

      Related
      ENSMUSP00000151620.2, ENSMUST00000220069.2
      Conserved Domains (2) summary
      pfam00029
      Location:3233
      Connexin
      pfam03508
      Location:293312
      Connexin43; Gap junction alpha-1 protein (Cx43)
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