HCSGD entry for GJA1


1. General information

Official gene symbolGJA1
Entrez ID2697
Gene full namegap junction protein, alpha 1, 43kDa
Other gene symbolsAVSD3 CX43 DFNB38 GJAL HLHS1 HSS ODDD
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

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3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0000139Golgi membraneTAScellular_component
GO:0001649Osteoblast differentiationIEAbiological_process
GO:0001701In utero embryonic developmentIEAbiological_process
GO:0001764Neuron migrationIEAbiological_process
GO:0001947Heart loopingIEAbiological_process
GO:0002070Epithelial cell maturationIEAbiological_process
GO:0002088Lens development in camera-type eyeIEAbiological_process
GO:0002544Chronic inflammatory responseIEAbiological_process
GO:0003104Positive regulation of glomerular filtrationIEAbiological_process
GO:0003158Endothelium developmentIEAbiological_process
GO:0003294Atrial ventricular junction remodelingIEAbiological_process
GO:0004871Signal transducer activityIMPmolecular_function
GO:0005102Receptor bindingIEAmolecular_function
GO:0005243Gap junction channel activityIDAmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005741Mitochondrial outer membraneIEAcellular_component
GO:0005764LysosomeIEAcellular_component
GO:0005769Early endosomeIEAcellular_component
GO:0005771Multivesicular bodyIEAcellular_component
GO:0005789Endoplasmic reticulum membraneTAScellular_component
GO:0005794Golgi apparatusISScellular_component
GO:0005829CytosolIEAcellular_component
GO:0005882Intermediate filamentIEAcellular_component
GO:0005886Plasma membraneISS TAScellular_component
GO:0005887Integral component of plasma membraneTAScellular_component
GO:0005916Fascia adherensIEAcellular_component
GO:0005921Gap junctionIDA ISScellular_component
GO:0005922Connexon complexIEAcellular_component
GO:0006810TransportTASbiological_process
GO:0006915Apoptotic processIEAbiological_process
GO:0006936Muscle contractionTASbiological_process
GO:0007165Signal transductionIMPbiological_process
GO:0007204Positive regulation of cytosolic calcium ion concentrationIEAbiological_process
GO:0007267Cell-cell signalingTASbiological_process
GO:0007507Heart developmentTASbiological_process
GO:0007512Adult heart developmentIEAbiological_process
GO:0009268Response to pHIEAbiological_process
GO:0010232Vascular transportIEAbiological_process
GO:0010628Positive regulation of gene expressionIEAbiological_process
GO:0010629Negative regulation of gene expressionIEAbiological_process
GO:0010643Cell communication by chemical couplingIEAbiological_process
GO:0010644Cell communication by electrical couplingIDAbiological_process
GO:0010652Positive regulation of cell communication by chemical couplingIEAbiological_process
GO:0014704Intercalated discIDA ISScellular_component
GO:0015075Ion transmembrane transporter activityTASmolecular_function
GO:0015867ATP transportIEAbiological_process
GO:0016264Gap junction assemblyTASbiological_process
GO:0016324Apical plasma membraneIEAcellular_component
GO:0016328Lateral plasma membraneIEAcellular_component
GO:0017124SH3 domain bindingIEAmolecular_function
GO:0030165PDZ domain bindingIEAmolecular_function
GO:0030500Regulation of bone mineralizationIEAbiological_process
GO:0030660Golgi-associated vesicle membraneTAScellular_component
GO:0034220Ion transmembrane transportTASbiological_process
GO:0034405Response to fluid shear stressIEAbiological_process
GO:0042733Embryonic digit morphogenesisIEAbiological_process
GO:0043123Positive regulation of I-kappaB kinase/NF-kappaB signalingIMPbiological_process
GO:0043292Contractile fiberIEAcellular_component
GO:0043403Skeletal muscle tissue regenerationIEAbiological_process
GO:0043434Response to peptide hormoneIEAbiological_process
GO:0045121Membrane raftISScellular_component
GO:0045732Positive regulation of protein catabolic processIEAbiological_process
GO:0045844Positive regulation of striated muscle tissue developmentIEAbiological_process
GO:0045907Positive regulation of vasoconstrictionIEAbiological_process
GO:0045909Positive regulation of vasodilationIEAbiological_process
GO:0046850Regulation of bone remodelingIEAbiological_process
GO:0048487Beta-tubulin bindingIEAmolecular_function
GO:0048514Blood vessel morphogenesisIEAbiological_process
GO:0048812Neuron projection morphogenesisIEAbiological_process
GO:0051259Protein oligomerizationIEAbiological_process
GO:0051924Regulation of calcium ion transportIEAbiological_process
GO:0055085Transmembrane transportIDA TASbiological_process
GO:0060044Negative regulation of cardiac muscle cell proliferationIEAbiological_process
GO:0060156Milk ejectionIEAbiological_process
GO:0060307Regulation of ventricular cardiac muscle cell membrane repolarizationIEAbiological_process
GO:0060371Regulation of atrial cardiac muscle cell membrane depolarizationIEAbiological_process
GO:0060373Regulation of ventricular cardiac muscle cell membrane depolarizationIEAbiological_process
GO:0071253Connexin bindingIEAmolecular_function
GO:0071260Cellular response to mechanical stimulusIEAbiological_process
GO:0086014Atrial cardiac muscle cell action potentialTASbiological_process
GO:0097110Scaffold protein bindingIEAmolecular_function
GO:2000810Regulation of tight junction assemblyIEAbiological_process
GO:2000987Positive regulation of behavioral fear responseIEAbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.27441649630.17721647730.97055444040.8141841710

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Up0.1864066368
GSE13712_SHEARUp0.2030184896
GSE13712_STATICUp0.1242238827
GSE19018Down-0.1282428312
GSE19899_A1Up0.5457625570
GSE19899_A2Down-0.2068721973
PubMed_21979375_A1Up0.3040082286
PubMed_21979375_A2Up0.1387965292
GSE35957Down-0.4255719100
GSE36640Down-0.0350045010
GSE54402Up0.0590354924
GSE9593Up0.3051364893
GSE43922Up0.3332001441
GSE24585Down-1.2904520167
GSE37065Up0.2109132220
GSE28863_A1Down-0.0865053123
GSE28863_A2Up0.3602205308
GSE28863_A3Down-0.3221121482
GSE28863_A4Down-0.2098748518
GSE48662Down-0.3680549751

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Name

Drug

Accession number

CarvedilolDB01136 APRD00091

  • MicroRNAs

  • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-1MIMAT0000416MIRT001984Luciferase reporter assay//Reporter assay;OtherFunctional MTI17401374
hsa-miR-1MIMAT0000416MIRT001984Luciferase reporter assayFunctional MTI23352489
hsa-miR-1MIMAT0000416MIRT001984Reporter assayFunctional MTI17062625
hsa-miR-206MIMAT0000462MIRT021080Western blotFunctional MTI17062625
hsa-miR-342-3pMIMAT0000753MIRT043680CLASHFunctional MTI (Weak)23622248
hsa-miR-23b-3pMIMAT0000418MIRT046296CLASHFunctional MTI (Weak)23622248
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  • mirRecord

MicroRNA name

mirBase ID

Target site number

MiRNA mature ID

Test method inter

MiRNA regulation site

Reporter target site

Pubmed ID

hsa-miR-1MIMAT00004161hsa-miR-117401374
hsa-miR-1MIMAT0000416NAhsa-miR-118155131
hsa-miR-206MIMAT0000462NAhsa-miR-20618155131
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6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 8 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

24423443AMPK-mediated downregulation of connexin43 and premature senescence of mesangial cells under high-glucose conditions
24423443Our previous study showed that glomerular mesangial cells (GMCs) appeared to take on senescent phenotypes under high-glucose conditions in conjunction with the downregulation of connexin43 (Cx43)
24423443In this study, we investigated whether AMPK-mediated Cx43 expression and premature senescence in diabetic nephropathy are associated with mTOR activation
24423443From in vivo and in vitro studies, we found decreased expression of Cx43 and p-AMPK but increased expression of p21 both in the glomeruli of diabetic nephropathy and in primary GMCs cultured in high glucose
22696456We observed no effect of age upon osteoblastic Cx43 mRNA, protein or GJIC
22696456PTH-stimulated GJIC occurred independently of changes in Cx43 mRNA or protein expression
22611193Connexin-43 (Cx43), a connexin constituent of gap junctions (GJs) is expressed in HSCs, down-regulated during differentiation, and postulated to be a self-renewal gene
22611193Our studies, however, reveal that hematopoietic-specific Cx43 deficiency does not result in significant long-term competitive repopulation deficiency
22611193Instead, hematopoietic Cx43 (H-Cx43) deficiency delays hematopoietic recovery after myeloablation with 5-fluorouracil (5-FU)
22611193In vivo antioxidant administration prevents the defective hematopoietic regeneration, as well as exogenous expression of Cx43 in HSC/P cells
22611193Furthermore, ROS transfer from HSC/P cells to BM stromal cells is also rescued by reexpression of Cx43 in HSC/P
22611193Finally, the deficiency of Cx43 in the HM phenocopies the hematopoietic defect in vivo
22611193These results indicate that Cx43 exerts a protective role and regulates the HSC/P ROS content through ROS transfer to the HM, resulting in HSC protection during stress hematopoietic regeneration
16507351Treated cells also showed increased presence of connexin-43 both in young and old donor-derived cells
15040891Dye transfer assay for gap junction function and immunofluorescent staining for connexin 43 protein distribution were done respectively
14516786Measurement of Connexin 43 indicated a decreased expression of the protein, which suggests an impaired gap junction communication in senescent-like HDFs
12213561Drop of connexin 43 in replicative senescence of human fibroblasts HEL-299 as a possible biomarker of senescence
12213561The expression of connexin 43 (cx43) and cell-cell communication were studied in replicative senescence of cultured HEL-299 fibroblasts
8082719Northern and Western analyses reveal that the levels of both cx43 (connexin 43) messenger RNA and protein decline as HUVEC age in vitro
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