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Gja1 gap junction protein, alpha 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 24392, updated on 24-Apr-2024

Summary

Official Symbol
Gja1provided by RGD
Official Full Name
gap junction protein, alpha 1provided by RGD
Primary source
RGD:2690
See related
Ensembl:ENSRNOG00000000805 AllianceGenome:RGD:2690
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
Cx43; Cxnk1
Summary
Enables connexin binding activity; gap junction channel activity; and protein domain specific binding activity. Involved in several processes, including blood vessel diameter maintenance; negative regulation of cell population proliferation; and reproductive structure development. Located in several cellular components, including endosome; fascia adherens; and gap junction. Part of connexin complex. Used to study Parkinsonism; amnestic disorder; high grade glioma; and myocardial infarction. Biomarker of several diseases, including artery disease (multiple); autoimmune thyroiditis; borna disease; ischemia (multiple); and tongue squamous cell carcinoma. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive craniometaphyseal dysplasia; congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Orthologous to human GJA1 (gap junction protein alpha 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in Heart (RPKM 726.0), Adrenal (RPKM 573.0) and 9 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Location:
20q11
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (36302490..36315010)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (35756007..35768481)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (37876650..37889097)

Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene TBC1 domain family, member 32 Neighboring gene male-specific lethal 3-like 2 Neighboring gene inactive serine/threonine-protein kinase VRK3 pseudogene Neighboring gene lactate dehydrogenase A, pseudogene 19 Neighboring gene uncharacterized LOC108349074 Neighboring gene ribosomal protein L15, pseudogene 15

Genomic regions, transcripts, and products

Expression

  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC93610

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables SH3 domain binding EXP
Inferred from Experiment
more info
PubMed 
enables SH3 domain binding IDA
Inferred from Direct Assay
more info
PubMed 
enables SH3 domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables alpha-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-catenin binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables connexin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables efflux transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
enables gap junction channel activity involved in cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
enables gap junction hemi-channel activity ISO
Inferred from Sequence Orthology
more info
 
enables gap junction hemi-channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables glutathione transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables monoatomic ion transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein tyrosine kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables scaffold protein binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables tubulin binding ISO
Inferred from Sequence Orthology
more info
 
enables tubulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in ATP transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell activation ISO
Inferred from Sequence Orthology
more info
 
involved_in T cell proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within adult heart development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within atrial ventricular junction remodeling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within blood vessel morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in bone development ISO
Inferred from Sequence Orthology
more info
 
involved_in bone development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in bone remodeling ISO
Inferred from Sequence Orthology
more info
 
involved_in bone remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cardiac conduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell communication by chemical coupling ISO
Inferred from Sequence Orthology
more info
 
involved_in cell communication by electrical coupling IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
involved_in cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell-cell junction organization ISO
Inferred from Sequence Orthology
more info
 
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 cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell-cell signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in cell-cell signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to amyloid-beta ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to pH ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to parathyroid hormone stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in cellular response to platelet-derived growth factor stimulus ISO
Inferred from Sequence Orthology
more info
 
involved_in chronic inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within columnar/cuboidal epithelial cell maturation ISO
Inferred from Sequence Orthology
more info
 
involved_in decidualization IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within embryonic digit morphogenesis ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within embryonic heart tube development ISO
Inferred from Sequence Orthology
more info
 
involved_in endothelium development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in epididymis development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in establishment of mitotic spindle orientation ISO
Inferred from Sequence Orthology
more info
 
involved_in export across plasma membrane ISO
Inferred from Sequence Orthology
more info
 
involved_in gap junction assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in glutamate secretion ISO
Inferred from Sequence Orthology
more info
 
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 development IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IEP
Inferred from Expression Pattern
more info
PubMed 
acts_upstream_of_or_within heart development ISO
Inferred from Sequence Orthology
more info
 
involved_in heart development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within heart looping ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within in utero embryonic development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within lens development in camera-type eye ISO
Inferred from Sequence Orthology
more info
 
involved_in maintenance of protein localization in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
involved_in male gonad development ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule-based transport ISO
Inferred from Sequence Orthology
more info
 
involved_in microtubule-based transport ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within milk ejection reflex ISO
Inferred from Sequence Orthology
more info
 
involved_in monoatomic ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of DNA biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cardiac muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of gonadotropin secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of trophoblast cell migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuroblast migration ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuron migration ISO
Inferred from Sequence Orthology
more info
 
involved_in neuron projection morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within osteoblast differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of behavioral fear response IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in positive regulation of cell communication by chemical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cold-induced thermogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of cytosolic calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of establishment of Sertoli cell barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of glomerular filtration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mesodermal cell differentiation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of morphogenesis of an epithelium ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of smooth muscle cell chemotaxis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of stem cell proliferation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of striated muscle tissue development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of positive regulation of vascular associated smooth muscle cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vasoconstriction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of actin filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of atrial cardiac muscle cell membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of bone mineralization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of bone remodeling ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of calcium ion transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of heart contraction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in response to estradiol IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to fluid shear stress IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to glucose IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to ischemia IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to ischemia ISO
Inferred from Sequence Orthology
more info
 
involved_in response to lipopolysaccharide IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to pH IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to peptide hormone IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to retinoic acid IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to wounding ISO
Inferred from Sequence Orthology
more info
 
involved_in signal transduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within skeletal muscle tissue regeneration ISO
Inferred from Sequence Orthology
more info
 
involved_in spermatogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in spermatogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in vascular transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vasodilation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in xenobiotic transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in cell-cell contact zone ISO
Inferred from Sequence Orthology
more info
 
located_in cell-cell junction ISO
Inferred from Sequence Orthology
more info
 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of connexin complex IEA
Inferred from Electronic Annotation
more info
 
part_of connexin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of connexin complex ISO
Inferred from Sequence Orthology
more info
 
located_in contractile muscle fiber ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in fascia adherens IDA
Inferred from Direct Assay
more info
PubMed 
located_in fascia adherens ISO
Inferred from Sequence Orthology
more info
 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
more info
 
located_in intercalated disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
located_in intermediate filament ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in lateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in multivesicular body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in tight junction ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
gap junction alpha-1 protein
Names
connexin 43
connexin k1
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_001429427.1NP_001416356.1  gap junction alpha-1 protein

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000020
  2. NM_001429428.1NP_001416357.1  gap junction alpha-1 protein

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000020
  3. NM_001429429.1NP_001416358.1  gap junction alpha-1 protein

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000020
  4. NM_012567.3NP_036699.1  gap junction alpha-1 protein

    See identical proteins and their annotated locations for NP_036699.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000020
    UniProtKB/Swiss-Prot
    P08050, Q53ZE1
    UniProtKB/TrEMBL
    A0A654ICE6, A0A8L2UHE4
    Related
    ENSRNOP00000093256.1, ENSRNOT00000100494.1
    Conserved Domains (2) summary
    pfam00029
    Location:3233
    Connexin
    pfam03508
    Location:293312
    Connexin43; Gap junction alpha-1 protein (Cx43)

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086038.1 Reference GRCr8

    Range
    36302490..36315010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039098413.2XP_038954341.1  gap junction alpha-1 protein isoform X1

    UniProtKB/Swiss-Prot
    P08050, Q53ZE1
    UniProtKB/TrEMBL
    A0A654ICE6, A0A8L2UHE4
    Conserved Domains (2) summary
    pfam00029
    Location:3233
    Connexin
    pfam03508
    Location:293312
    Connexin43; Gap junction alpha-1 protein (Cx43)
  2. XM_063278953.1XP_063135023.1  gap junction alpha-1 protein isoform X1

    UniProtKB/Swiss-Prot
    P08050, Q53ZE1
    UniProtKB/TrEMBL
    A0A654ICE6
  3. XM_063278954.1XP_063135024.1  gap junction alpha-1 protein isoform X1

    UniProtKB/Swiss-Prot
    P08050, Q53ZE1
    UniProtKB/TrEMBL
    A0A654ICE6