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.
Protein names
Recommended name:
Gap junction alpha-1 proteinAlternative name(s):
Connexin-43Cx43
Gap junction 43 kDa heart protein
- RS11154022 (GJA1) ??
- RS11154027 (GJA1) ??
- RS17083533 (GJA1) ??
- RS4541776 (GJA1) ??
- RS9490306 (GJA1) ??
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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:
Tissue specificity:
Expressed in the heart and fetal cochlea.
Gene Pathways:
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:
- Signal Transducer Activity
- Gap Junction Channel Activity
- Ion Transmembrane Transporter Activity
- Gap Junction Channel Activity Involved In Cardiac Conduction Electrical Coupling
- Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
Biological Processes:
- Osteoblast Differentiation
- In Utero Embryonic Development
- Neuron Migration
- Negative Regulation Of Endothelial Cell Proliferation
- Heart Looping
- Regulation Of Heart Rate
- Epithelial Cell Maturation
- Lens Development In Camera-Type Eye
- Chronic Inflammatory Response
- Positive Regulation Of Glomerular Filtration
- Endothelium Development
- Atrial Ventricular Junction Remodeling
- Transport
- Apoptotic Process
- Muscle Contraction
- Signal Transduction
- Positive Regulation Of Cytosolic Calcium Ion Concentration
- Cell-Cell Signaling
- Heart Development
- Adult Heart Development
- Response To Ph
- Response To Glucose
- Vascular Transport
- Positive Regulation Of Gene Expression
- Negative Regulation Of Gene Expression
- Cell Communication By Chemical Coupling
- Cell Communication By Electrical Coupling
- Positive Regulation Of Cell Communication By Chemical Coupling
- Atp Transport
- Gap Junction Assembly
- Negative Regulation Of Cell Growth
- Regulation Of Bone Mineralization
- Positive Regulation Of Insulin Secretion
- Ion Transmembrane Transport
- Response To Fluid Shear Stress
- Embryonic Digit Morphogenesis
- Positive Regulation Of I-Kappab Kinase/Nf-Kappab Signaling
- Skeletal Muscle Tissue Regeneration
- Response To Peptide Hormone
- 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
- Regulation Of Bone Remodeling
- Blood Vessel Morphogenesis
- Neuron Projection Morphogenesis
- Protein Oligomerization
- Regulation Of Calcium Ion Transport
- Negative Regulation Of Cardiac Muscle Cell Proliferation
- Milk Ejection Reflex
- Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization
- Regulation Of Atrial Cardiac Muscle Cell Membrane Depolarization
- Regulation Of Ventricular Cardiac Muscle Cell Membrane Depolarization
- Negative Regulation Of Wound Healing
- Cellular Response To Mechanical Stimulus
- Atrial Cardiac Muscle Cell Action Potential
- Cell Communication By Electrical Coupling Involved In Cardiac Conduction
- Negative Regulation Of Dna Biosynthetic Process
- Regulation Of Bicellular Tight Junction Assembly
- Positive Regulation Of Behavioral Fear Response