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. 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. Belongs to the connexin family. Alpha-type (group II) subfamily. Expressed in the heart and fetal cochlea. 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; cell junction; connexin complex; contractile fiber; cytosol; early endosome; endoplasmic reticulum membrane; fascia adherens; gap junction; Golgi apparatus; Golgi membrane; Golgi-associated vesicle membrane; integral component of plasma membrane; intercalated disc; intermediate filament; intracellular membrane-bounded organelle; lateral plasma membrane; lysosome; membrane raft; mitochondrial outer membrane; mitochondrion; multivesicular body; nucleoplasm; plasma membrane
Molecular Function:  beta-tubulin binding; connexin binding; disordered domain specific binding; 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; gap junction hemi-channel activity; ion transmembrane transporter activity; PDZ domain binding; protein binding; protein tyrosine kinase binding; scaffold protein binding; SH3 domain binding; signaling receptor binding; tubulin binding
Biological Process:  adult heart development; apoptotic process; ATP transport; atrial cardiac muscle cell action potential; atrial ventricular junction remodeling; blood vessel morphogenesis; bone development; bone remodeling; 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 mechanical stimulus; cellular response to parathyroid hormone stimulus; cellular response to pH; chronic inflammatory response; decidualization; embryonic digit morphogenesis; endothelium development; epididymis development; epithelial cell maturation; gap junction assembly; heart development; heart looping; in utero embryonic development; ion transmembrane transport; lens development in camera-type eye; male gonad development; 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 blood vessel diameter; positive regulation of cell communication by chemical coupling; positive regulation of cold-induced thermogenesis; positive regulation of cytosolic calcium ion concentration; positive regulation of gene expression; positive regulation of glomerular filtration; 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 complex oligomerization; regulation of apoptotic process; 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 transmembrane transporter activity; regulation of ventricular cardiac muscle cell membrane depolarization; regulation of ventricular cardiac muscle cell membrane repolarization; response to estradiol; response to fluid shear stress; response to glucose; response to ischemia; response to lipopolysaccharide; response to peptide hormone; response to retinoic acid; signal transduction; skeletal muscle tissue regeneration; spermatogenesis; T cell proliferation; vascular transport
Disease: Atrioventricular Septal Defect 3; Craniometaphyseal Dysplasia, Autosomal Recessive; 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: AVSD3; CMDR; connexin 43; Connexin-43; Cx43; CXA1; DFNB38; EKVP; EKVP3; Gap junction 43 kDa heart protein; Gap junction alpha-1 protein; gap junction protein alpha 1; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJA1; GJAL; HLHS1; HSS; ODDD; PPKCA
Gene Symbols: GJA1
Molecular weight: 43,008 Da
Basal Isoelectric point: 8.96  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene