GJA1

Description		gap junction protein alpha 1
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GO Annotations	Cellular Component	Golgi Membrane Nucleus Nucleoplasm Cytoplasm Mitochondrion Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Plasma Membrane Gap Junction Connexin Complex Focal Adhesion Intercalated Disc Membrane Apical Plasma Membrane Cell Junction Golgi-associated Vesicle Membrane Cell-cell Contact Zone Membrane Raft Tight Junction Anchoring Junction
	Molecular Function	Gap Junction Channel Activity Protein Binding Beta-catenin Binding Monoatomic Ion Transmembrane Transporter Activity Efflux Transmembrane Transporter Activity Tubulin Binding Transmembrane Transporter Activity Glutathione Transmembrane Transporter Activity Alpha-tubulin Binding Gap Junction Hemi-channel Activity Gap Junction Channel Activity Involved In Cardiac Conduction Electrical Coupling Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
	Biological Process	Establishment Of Mitotic Spindle Orientation Cardiac Conduction System Development Cell Communication Signal Transduction Cell-cell Signaling Spermatogenesis Heart Development Intracellular Protein Localization Positive Regulation Of Gene Expression Cell Communication By Electrical Coupling Glutamate Secretion Gap Junction Assembly Negative Regulation Of Cell Growth Negative Regulation Of Gonadotropin Secretion Monoatomic Ion Transmembrane Transport Glutathione Transmembrane Transport Maintenance Of Blood-brain Barrier Xenobiotic Transport Positive Regulation Of Canonical NF-kappaB Signal Transduction Cell-cell Junction Organization Bone Remodeling Transmembrane Transport Bone Development Atrial Cardiac Muscle Cell Action Potential Cell Communication By Electrical Coupling Involved In Cardiac Conduction Microtubule-based Transport Positive Regulation Of Cold-induced Thermogenesis Export Across Plasma Membrane Negative Regulation Of Trophoblast Cell Migration Regulation Of Blood Circulation 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 Positive Regulation Of Stem Cell Proliferation
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 RHOQ GTPase cycle RHOJ GTPase cycle SARS-CoV-2 targets PDZ proteins in cell-cell junction Mechanical load activates signaling by PIEZO1 and integrins in osteocytes
Drugs		Carvedilol
Diseases		Deafness, autosomal recessive Oculodentodigital dysplasia Syndactyly
GWAS		Atrial fibrillation ( 29892015 28416822 28416818) 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 ( 27841878 28135244) Resting heart rate ( 20639392 29769521 23183192 27798624) 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		29 interacting genes: AKT1 CAV1 CCN3 CNST CREB3 CSK CSNK1D GABARAP GJA3 GJA5 HTR2C ITCH MAPK1 MAPK3 MAPK7 NEDD4 NINJ2 PLPP4 PRKCA PRKCB PRKCE PRKCG S100A1 SGSM3 SRC TJP1 TMEM128 TMEM86B UBQLN4
Entrez ID		2697
HPRD ID		00414
Ensembl ID		ENSG00000152661
Uniprot IDs		P17302
PDB IDs		2LL2 7F92 7F93 7F94 7XQ9 7XQB 7XQD 7XQF 7XQG 7XQH 7XQI 7XQJ 7Z1T 7Z22 7Z23 8QKO
Enriched GO Terms of Interacting Partners?		Regulation Of Transport Regulation Of Protein Catabolic Process Protein Kinase Activity Regulation Of Intracellular Signal Transduction Intracellular Signal Transduction Gap Junction Regulation Of Vesicle-mediated Transport Kinase Activity Protein Phosphorylation Regulation Of Cell Communication Calcium,diacylglycerol-dependent Serine/threonine Kinase Activity Protein Serine Kinase Activity Regulation Of Protein Metabolic Process Immune Response-activating Signaling Pathway Immune Response-activating Cell Surface Receptor Signaling Pathway Regulation Of Cellular Localization Phosphorylation Protein Serine/threonine Kinase Activity Diacylglycerol-dependent Serine/threonine Kinase Activity Positive Regulation Of Catabolic Process Immune Response-regulating Cell Surface Receptor Signaling Pathway Immune Response-regulating Signaling Pathway Activation Of Immune Response Regulation Of Signal Transduction Signal Transduction Regulation Of Signaling Regulation Of Proteasomal Protein Catabolic Process Caveolin-mediated Endocytosis Connexin Binding Positive Regulation Of Immune System Process Positive Regulation Of Cell Communication Positive Regulation Of Protein Catabolic Process Regulation Of Cellular Component Organization Regulation Of MAPK Cascade Regulation Of Cell-cell Adhesion Regulation Of Proteolysis Positive Regulation Of Cell Migration Positive Regulation Of Cell Motility Positive Regulation Of Signaling Negative Regulation Of Transport Positive Regulation Of Locomotion Lipopolysaccharide-mediated Signaling Pathway Regulation Of Cell Adhesion Positive Regulation Of Protein Metabolic Process Plasma Membrane Response To Peptide Hormone Regulation Of Immune System Process Response To Growth Factor Negative Regulation Of Apoptotic Process Intracellular Signaling Cassette
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