GJA1

Description		gap junction protein alpha 1
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GO Annotations	Cellular Component	Golgi Membrane Nucleoplasm Cytoplasm Mitochondrion Mitochondrial Outer Membrane Lysosome Early Endosome Multivesicular Body Endoplasmic Reticulum Membrane Golgi Apparatus Plasma Membrane Integral Component Of Plasma Membrane Fascia Adherens Gap Junction Connexin Complex Focal Adhesion Intercalated Disc Apical Plasma Membrane Cell Junction Golgi-associated Vesicle Membrane Intracellular Membrane-bounded Organelle Cell-cell Contact Zone Membrane Raft Tight Junction
	Molecular Function	Gap Junction Channel Activity Protein Binding Beta-catenin Binding Ion Transmembrane Transporter Activity Efflux Transmembrane Transporter Activity Tubulin Binding SH3 Domain Binding PDZ Domain Binding Glutathione Transmembrane Transporter Activity Gap Junction Hemi-channel Activity Connexin Binding Gap Junction Channel Activity Involved In Cardiac Conduction Electrical Coupling Disordered Domain Specific Binding Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
	Biological Process	Establishment Of Mitotic Spindle Orientation Negative Regulation Of Endothelial Cell Proliferation Chronic Inflammatory Response Response To Ischemia Positive Regulation Of Glomerular Filtration Endothelium Development Apoptotic Process Signal Transduction Positive Regulation Of Cytosolic Calcium Ion Concentration Cell-cell Signaling Spermatogenesis Heart Development Response To PH Response To Glucose Vascular Transport Positive Regulation Of Gene Expression Cell Communication By Electrical Coupling Regulation Of Cell Communication By Electrical Coupling Positive Regulation Of Cell Communication By Chemical Coupling Glutamate Secretion ATP Transport Gap Junction Assembly Regulation Of Transmembrane Transporter Activity Negative Regulation Of Cell Growth Positive Regulation Of Insulin Secretion Negative Regulation Of Gonadotropin Secretion Response To Estradiol Response To Lipopolysaccharide Response To Retinoic Acid Ion Transmembrane Transport Response To Fluid Shear Stress Cellular Protein Localization Glutathione Transmembrane Transport Maintenance Of Protein Localization In Endoplasmic Reticulum Maintenance Of Blood-brain Barrier Xenobiotic Transport Regulation Of Apoptotic Process Positive Regulation Of I-kappaB Kinase/NF-kappaB Signaling Response To Peptide Hormone Positive Regulation Of Protein Catabolic Process Positive Regulation Of Vasoconstriction Decidualization Bone Remodeling Neuron Projection Morphogenesis Regulation Of Calcium Ion Transport Negative Regulation Of Cardiac Muscle Cell Proliferation Bone Development Negative Regulation Of Wound Healing Cellular Response To Mechanical Stimulus Cellular Response To Parathyroid Hormone Stimulus Atrial Cardiac Muscle Cell Action Potential Cell Communication By Electrical Coupling Involved In Cardiac Conduction Positive Regulation Of Cold-induced Thermogenesis Export Across Plasma Membrane Negative Regulation Of Trophoblast Cell Migration Cellular Response To Amyloid-beta Positive Regulation Of Vascular Associated Smooth Muscle Cell Proliferation Positive Regulation Of Morphogenesis Of An Epithelium Positive Regulation Of Mesodermal Cell Differentiation Epididymis Development Negative Regulation Of DNA Biosynthetic Process Positive Regulation Of Stem Cell Proliferation Regulation Of Bicellular Tight Junction Assembly Positive Regulation Of Behavioral Fear Response
Pathways		Oligomerization of connexins into connexons Transport of connexins along the secretory pathway Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly Gap junction assembly Gap junction degradation Regulation of gap junction activity Regulation of gap junction activity Formation of annular gap junctions
Drugs		Carvedilol
Diseases		Syndactyly Deafness, autosomal recessive Oculodentodigital dysplasia
GWAS		Atrial fibrillation ( 28416818 28416822 29892015) Disease progression in age-related macular degeneration ( 29346644) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Focal epilepsy (with hippocampal sclerosis) ( 30531953) General risk tolerance (MTAG) ( 30643258) HDL cholesterol levels ( 32203549) Heart rate ( 23583979) Heel bone mineral density ( 30598549) Migraine ( 27322543) Peak creatinine levels in vancomycin therapy ( 26030142) PR interval ( 32439900) Protein quantitative trait loci ( 18464913) Pulse pressure ( 28135244 27841878) Resting heart rate ( 29769521 23183192 27798624 20639392) RR interval (heart rate) ( 30679814) Systolic blood pressure response to hydrochlorothiazide in hypertension ( 27802415) Tendinopathy ( 31615970) Vertical cup-disc ratio (multi-trait analysis) ( 31959993)
Novel Interacting Genes		1 novel interacting genes: CFLAR
Interacting Genes		26 interacting genes: AKT1 CAV1 CCN3 CNST CREB3 CSK CSNK1D GJA3 GJA5 HTR2C MAPK1 MAPK3 MAPK7 NINJ2 PLPP4 PRKCA PRKCB PRKCE PRKCG S100A1 SGSM3 SRC TJP1 TMEM128 TMEM86B UBQLN4
Entrez ID		2697
HPRD ID		00414
Ensembl ID		ENSG00000152661
Uniprot IDs		A0A654IBU3 P17302
PDB IDs		2LL2
Enriched GO Terms of Interacting Partners?
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