Gene description for GJA1
Gene name gap junction protein, alpha 1, 43kDa
Gene symbol GJA1
Other names/aliases AVSD3
CMDR
CX43
GJAL
HLHS1
HSS
ODDD
Species Homo sapiens
 Database cross references - GJA1
ExoCarta ExoCarta_2697
Entrez Gene 2697
HGNC 4274
MIM 121014
UniProt P17302  
 GJA1 identified in exosomes derived from the following tissue/cell type
Endothelial cells 26027894    
Ovarian cancer cells 23333927    
Ovarian cancer cells 23333927    
 Gene ontology annotations for GJA1
Molecular Function
    connexin binding GO:0071253 IEA
    gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 NAS
    gap junction channel activity involved in cell communication by electrical coupling GO:1903763 IDA
    scaffold protein binding GO:0097110 IEA
    protein binding GO:0005515 IPI
    gap junction channel activity GO:0005243 IDA
    beta-tubulin binding GO:0048487 IEA
    receptor binding GO:0005102 IEA
    ion transmembrane transporter activity GO:0015075 IDA
    PDZ domain binding GO:0030165 IEA
    SH3 domain binding GO:0017124 IEA
    signal transducer activity GO:0004871 IMP
Biological Process
    positive regulation of striated muscle tissue development GO:0045844 IEA
    transport GO:0006810 TAS
    regulation of bicellular tight junction assembly GO:2000810 IEA
    skeletal muscle tissue regeneration GO:0043403 IEA
    negative regulation of cardiac muscle cell proliferation GO:0060044 IEA
    atrial ventricular junction remodeling GO:0003294 IEA
    epithelial cell maturation GO:0002070 IEA
    milk ejection GO:0060156 IEA
    positive regulation of vasoconstriction GO:0045907 IEA
    embryonic digit morphogenesis GO:0042733 IEA
    in utero embryonic development GO:0001701 IEA
    negative regulation of endothelial cell proliferation GO:0001937 IEA
    negative regulation of gene expression GO:0010629 IEA
    positive regulation of gene expression GO:0010628 IEA
    vascular transport GO:0010232 IEA
    cellular response to mechanical stimulus GO:0071260 IEA
    neuron projection morphogenesis GO:0048812 IEA
    ATP transport GO:0015867 IEA
    response to glucose GO:0009749 IEA
    regulation of calcium ion transport GO:0051924 IEA
    apoptotic process GO:0006915 IEA
    regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 IEA
    positive regulation of protein catabolic process GO:0045732 IEA
    negative regulation of DNA biosynthetic process GO:2000279 IEA
    muscle contraction GO:0006936 TAS
    blood vessel morphogenesis GO:0048514 IEA
    regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 IEA
    response to peptide hormone GO:0043434 IEA
    regulation of bone mineralization GO:0030500 IEA
    positive regulation of cell communication by chemical coupling GO:0010652 IEA
    heart looping GO:0001947 IEA
    response to fluid shear stress GO:0034405 IEA
    cell communication by electrical coupling involved in cardiac conduction GO:0086064 NAS
    gap junction assembly GO:0016264 TAS
    lens development in camera-type eye GO:0002088 IEA
    positive regulation of osteoblast differentiation GO:0045669 IEA
    atrial cardiac muscle cell action potential GO:0086014 TAS
    regulation of bone remodeling GO:0046850 IEA
    membrane organization GO:0061024 TAS
    endothelium development GO:0003158 IEA
    signal transduction GO:0007165 IDA
    ion transmembrane transport GO:0034220 IDA
    chronic inflammatory response GO:0002544 IEA
    neuron migration GO:0001764 IEA
    adult heart development GO:0007512 IEA
    positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 IMP
    positive regulation of behavioral fear response GO:2000987 IEA
    heart development GO:0007507 TAS
    positive regulation of cytosolic calcium ion concentration GO:0007204 IEA
    negative regulation of wound healing GO:0061045 IEA
    protein oligomerization GO:0051259 IEA
    cell-cell signaling GO:0007267 IDA
    positive regulation of insulin secretion GO:0032024 IEA
    cell communication by chemical coupling GO:0010643 IEA
    response to pH GO:0009268 IEA
    cell communication by electrical coupling GO:0010644 IDA
    positive regulation of glomerular filtration GO:0003104 IEA
    regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 IEA
    positive regulation of vasodilation GO:0045909 IEA
    osteoblast differentiation GO:0001649 IEA
Subcellular Localization
    endoplasmic reticulum membrane GO:0005789 TAS
    mitochondrial outer membrane GO:0005741 IEA
    contractile fiber GO:0043292 IEA
    multivesicular body GO:0005771 IEA
    extracellular exosome GO:0070062 IDA
    Golgi apparatus GO:0005794 ISS
    connexon complex GO:0005922 IEA
    lysosome GO:0005764 IEA
    gap junction GO:0005921 ISS
    Golgi membrane GO:0000139 TAS
    fascia adherens GO:0005916 IEA
    Golgi-associated vesicle membrane GO:0030660 TAS
    early endosome GO:0005769 IEA
    focal adhesion GO:0005925 IDA
    membrane raft GO:0045121 ISS
    lateral plasma membrane GO:0016328 IEA
    intercalated disc GO:0014704 ISS
    integral component of plasma membrane GO:0005887 TAS
    apical plasma membrane GO:0016324 IEA
    intermediate filament GO:0005882 IEA
    cytosol GO:0005829 IEA
    plasma membrane GO:0005886 TAS
 Experiment description of studies that identified GJA1 in exosomes
1
Experiment ID 226
ISEV standards
EM
EV Biophysical techniques
GAPDH
EV Cytosolic markers
CD9|FLOT1
EV Membrane markers
LMNA|H2AFX|ATP5A1|TOMM20
EV Negative markers
EV Particle analysis
Identified molecule mRNA
Identification method Small RNA sequencing (Illumina HiSeq 2000 (Solexa)
PubMed ID 26027894    
Organism Homo sapiens
Experiment description Quantitative and qualitative analysis of small RNAs in human endothelial cells and exosomes provides insights into localized RNA processing, degradation and sorting
Authors Bas W. M. van Balkom, Almut S. Eisele, D. Michiel Pegtel, Sander Bervoets, Marianne C. Verhaar
Journal name Journal of Extracellular Vesicles
Publication year 2015
Sample Endothelial cells
Sample name HMEC-1
Isolation/purification methods Differential ultracentrifugation
Sucrose density gradient
Flotation density 1.10 g/mL
Molecules identified in the study miRNA
Protein
snoRNA
lncRNA
yRNA
snRNA
mRNA
ncRNA
mtRNA
vtRNA
scaRNA
lincRNA
Methods used in the study Small RNA sequencing (Illumina HiSeq 2000 (Solexa)
Western blotting
2
Experiment ID 211
ISEV standards
EM
EV Biophysical techniques
TSG101|Alix
EV Cytosolic markers
EpCAM|TFRC
EV Membrane markers
cytochrome c|GOLGA2
EV Negative markers
EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K.
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name IGROV1
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
3
Experiment ID 212
ISEV standards
CEM
EV Biophysical techniques
TSG101|Alix
EV Cytosolic markers
EpCAM|TFRC
EV Membrane markers
Cytochrome C|GOLGA2
EV Negative markers
EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 23333927    
Organism Homo sapiens
Experiment description Characterization and proteomic analysis of ovarian cancer-derived exosomes.
Authors Liang B, Peng P, Chen S, Li L, Zhang M, Cao D, Yang J, Li H, Gui T, Li X, Shen K.
Journal name J Proteomics
Publication year 2013
Sample Ovarian cancer cells
Sample name OVCAR-3
Isolation/purification methods Differential centrifugation
Ultracentrifugation
Sucrose density gradient
Flotation density 1.09-1.15 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
 Protein-protein interactions for GJA1
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 S100A1  
Affinity Capture-Western Homo sapiens
Affinity Capture-MS Homo sapiens
2 GJA5  
Affinity Capture-MS Homo sapiens
Co-purification Homo sapiens
3 MAPK7  
Biochemical Activity Homo sapiens
Affinity Capture-MS Homo sapiens
Affinity Capture-Western Homo sapiens
4 TJP1 7082
Affinity Capture-Western Homo sapiens
Two-hybrid Homo sapiens
5 CSNK1D 1453
Affinity Capture-MS Homo sapiens
Biochemical Activity Homo sapiens
Affinity Capture-Western Homo sapiens
6 PRKCE  
Affinity Capture-Western Homo sapiens
7 CAV1 857
Affinity Capture-MS Homo sapiens
Invitro Homo sapiens
8 GJA3  
Affinity Capture-Western Homo sapiens
9 PRKCA 5578
Affinity Capture-Western Homo sapiens
10 SRC 6714
Affinity Capture-MS Homo sapiens
11 GJA1 2697
Co-fractionation Homo sapiens
Co-fractionation Homo sapiens
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