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GJA1 an integral membrane protein of the connexin family, alpha-type (group II) subfamily. Hexamers of connexin-43 form connexons, which aggregate together to form gap junctions, 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. Note: This description may include information from UniProtKB.
Protein type: Channel, misc.; Membrane protein, integral; Membrane protein, multi-pass; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 6q22.31
Cellular Component: apical plasma membrane; connexin complex; contractile fiber; cytosol; early endosome; endoplasmic reticulum membrane; extracellular exosome; fascia adherens; focal adhesion; gap junction; Golgi apparatus; Golgi membrane; integral component of plasma membrane; intercalated disc; intermediate filament; lateral plasma membrane; lysosome; membrane raft; mitochondrial outer membrane; mitochondrion; multivesicular body; plasma membrane
Molecular Function: beta-tubulin binding; gap junction channel activity; gap junction channel activity involved in cardiac conduction electrical coupling; ion transmembrane transporter activity; PDZ domain binding; protein binding; receptor binding; SH3 domain binding; signal transducer activity
Biological Process: adult heart development; apoptosis; ATP transport; atrial cardiac muscle cell action potential; atrial ventricular junction remodeling; blood vessel morphogenesis; cell communication by chemical coupling; cell communication by electrical coupling; cell communication by electrical coupling involved in cardiac conduction; cell-cell signaling; cellular response to parathyroid hormone stimulus; cellular response to pH; chronic inflammatory response; decidualization; elevation of cytosolic calcium ion concentration; embryonic digit morphogenesis; endothelium development; epithelial cell maturation; gap junction assembly; heart development; heart looping; in utero embryonic development; 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; neuron migration; neuron projection morphogenesis; osteoblast differentiation; positive regulation of behavioral fear response; positive regulation of blood vessel diameter; positive regulation of cell communication by chemical coupling; 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; protein oligomerization; regulation of bicellular tight junction assembly; regulation of bone mineralization; regulation of bone remodeling; regulation of calcium ion transport; regulation of transmembrane transporter activity; response to glucose stimulus; response to lipopolysaccharide; response to peptide hormone; response to retinoic acid; signal transduction; skeletal muscle tissue regeneration; transport; vascular transport
Disease: Atrioventricular Septal Defect 3; Craniometaphyseal Dysplasia, Autosomal Recessive; Erythrokeratodermia Variabilis Et Progressiva; Erythrokeratodermia Variabilis Et Progressiva 3; Hypoplastic Left Heart Syndrome 1; Oculodentodigital Dysplasia; Oculodentodigital Dysplasia, Autosomal Recessive; Palmoplantar Keratoderma And Congenital Alopecia 1; Syndactyly, Type Iii
Reference #:  P17302 (UniProtKB)
Alt. Names/Synonyms: connexin 43; Connexin-43; Cx43; CXA1; DFNB38; Gap junction 43 kDa heart protein; Gap junction alpha-1 protein; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJA1; GJAL; HSS; ODDD
Gene Symbols: GJA1
Molecular weight: 43,008 Da
Basal Isoelectric point: 8.96  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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