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; cell-cell contact zone; connexin complex; cytoplasm; endoplasmic reticulum membrane; gap junction; Golgi apparatus; Golgi membrane; Golgi-associated vesicle membrane; intercalated disc; intracellular membrane-bounded organelle; membrane raft; mitochondrion; nucleoplasm; plasma membrane; tight junction
Molecular Function:  beta-catenin binding; efflux transmembrane transporter activity; 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; glutathione transmembrane transporter activity; monoatomic ion transmembrane transporter activity; protein binding; tubulin binding
Biological Process:  atrial cardiac muscle cell action potential; bone development; bone remodeling; cardiac conduction system development; cell communication by electrical coupling; cell communication by electrical coupling involved in cardiac conduction; cell-cell signaling; cellular response to amyloid-beta; establishment of mitotic spindle orientation; export across plasma membrane; gap junction assembly; glutamate secretion; glutathione transmembrane transport; heart development; maintenance of blood-brain barrier; monoatomic ion transmembrane transport; negative regulation of cell growth; negative regulation of gonadotropin secretion; negative regulation of trophoblast cell migration; positive regulation of cold-induced thermogenesis; positive regulation of gene expression; positive regulation of mesodermal cell differentiation; positive regulation of morphogenesis of an epithelium; positive regulation of stem cell proliferation; positive regulation of vascular associated smooth muscle cell proliferation; protein localization; signal transduction; spermatogenesis; xenobiotic transport
Disease: Craniometaphyseal Dysplasia, Autosomal Recessive; Erythrokeratodermia Variabilis Et Progressiva 3; 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:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein