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  3. GJA1

GJA1 (Gap junction protein alpha 1)

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The Function of GJA1

Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles.

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Protein names

Recommended name:

Gap junction alpha-1 protein

Alternative name(s):

Connexin-43
Cx43
Gap junction 43 kDa heart protein

GJA1 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS11154022 (GJA1) ??
  2. RS11154027 (GJA1) ??
  3. RS17083533 (GJA1) ??
  4. RS4541776 (GJA1) ??
  5. RS9490306 (GJA1) ??

Top Gene-Substance Interactions

GJA1 Interacts with These Diseases

Disease Score

Substances That Increase GJA1

Substances Interaction Organism Category

Substances That Decrease GJA1

Substances Interaction Organism Category

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • PPAR-gamma1
  • PPAR-gamma2
  • p53
  • AP-1
  • NF-kappaB1
  • Nkx2-5
  • c-Myc
  • Sp1

Tissue specificity:

Expressed in the heart and fetal cochlea.

Gene Pathways:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Membrane Trafficking
  • Transport of connexins along the secretory pathway

Caution:

PubMed:11741837 reported 2 mutations (Phe-11 and Ala-24) linked to non-syndromic autosomal recessive deafness (DFNBG). These mutations have subsequently been shown (PubMed:12457340) to involve the pseudogene of connexin-43 located on chromosome 5.

Molecular Function:

  • Gap Junction Channel Activity
  • Gap Junction Channel Activity Involved In Cardiac Conduction Electrical Coupling
  • Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
  • Ion Transmembrane Transporter Activity
  • Signal Transducer Activity

Biological Processes:

  • Adult Heart Development
  • Apoptotic Process
  • Atp Transport
  • Atrial Cardiac Muscle Cell Action Potential
  • Atrial Ventricular Junction Remodeling
  • Blood Vessel Morphogenesis
  • Cell-Cell Signaling
  • Cell Communication By Chemical Coupling
  • Cell Communication By Electrical Coupling
  • Cell Communication By Electrical Coupling Involved In Cardiac Conduction
  • Cellular Response To Mechanical Stimulus
  • Chronic Inflammatory Response
  • Embryonic Digit Morphogenesis
  • Endothelium Development
  • Epithelial Cell Maturation
  • Gap Junction Assembly
  • Heart Development
  • Heart Looping
  • In Utero Embryonic Development
  • Ion Transmembrane Transport
  • Lens Development In Camera-Type Eye
  • Milk Ejection Reflex
  • Muscle Contraction
  • Negative Regulation Of Cardiac Muscle Cell Proliferation
  • Negative Regulation Of Cell Growth
  • Negative Regulation Of Dna Biosynthetic Process
  • Negative Regulation Of Endothelial Cell Proliferation
  • Negative Regulation Of Gene Expression
  • Negative Regulation Of Wound Healing
  • Neuron Migration
  • Neuron Projection Morphogenesis
  • Osteoblast Differentiation
  • Positive Regulation Of Behavioral Fear Response
  • Positive Regulation Of Cell Communication By Chemical Coupling
  • Positive Regulation Of Cytosolic Calcium Ion Concentration
  • Positive Regulation Of Gene Expression
  • Positive Regulation Of Glomerular Filtration
  • Positive Regulation Of I-Kappab Kinase/Nf-Kappab Signaling
  • Positive Regulation Of Insulin Secretion
  • Positive Regulation Of Osteoblast Differentiation
  • Positive Regulation Of Protein Catabolic Process
  • Positive Regulation Of Striated Muscle Tissue Development
  • Positive Regulation Of Vasoconstriction
  • Positive Regulation Of Vasodilation
  • Protein Oligomerization
  • Regulation Of Atrial Cardiac Muscle Cell Membrane Depolarization
  • Regulation Of Bicellular Tight Junction Assembly
  • Regulation Of Bone Mineralization
  • Regulation Of Bone Remodeling
  • Regulation Of Calcium Ion Transport
  • Regulation Of Ventricular Cardiac Muscle Cell Membrane Depolarization
  • Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization
  • Response To Fluid Shear Stress
  • Response To Glucose
  • Response To Peptide Hormone
  • Response To Ph
  • Signal Transduction
  • Skeletal Muscle Tissue Regeneration
  • Transport
  • Vascular Transport
  • Regulation Of Heart Rate

Drug Bank:

  • Carvedilol
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| alpha 1 connexin| alpha 1 gap junction protein| Anapl_08679| AS27_05534| AS28_11841| AVSD3| CB1_001251004| CMDR| Cnx43| connexin43| connexin 43| connexin-43| connexin 47| cx43| Cx43alpha1| D623_10035611| dfnb38| EGK_15392| EH28_01091| EKVP| gap junction 43 kDa heart protein| gap junction alpha-1 protein| gap junction membrane channel protein alpha 1| gap junction protein| gap junction protein, alpha 1| gap junction protein, alpha 1, 43kDa| gap junction protein, alpha 1, 43kDa (connexin 43)| gap junction protein, alpha 1, 43 kD (connexin 43)| gap junction protein connexin 43| Gja-1| GJAL| GW7_15987| HLHS1| HSS| M91_18979| M959_14711| N300_09577| N301_05530| N302_02818| N305_09280| N306_14862| N307_07974| N308_03124| N309_03765| N312_02220| N320_02821| N321_02191| N322_00588| N324_11803| N325_05039| N327_12583| N328_04039| N329_12930| N330_07279| N331_11682| N332_02228| N333_03010| N334_03913| N335_00607| N336_11621| N339_08715| N340_03196| N341_01954| Npm1| oddd| PAL_GLEAN10018663| PANDA_011866| PPKCA| TREES_T100012753| UY3_16484| vascular smooth muscle connexin-43| Y1Q_019970| Y956_00406| Z169_03552| gja1

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