GJA1

Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

Connexin43
Connexin43
	connexin 43 carboxyl terminal domain
Identifiers
Symbol	Connexin43
Pfam	PF03508
InterPro	IPR013124
TCDB	1.A.24
Pfam
Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

GJA1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2LL2
Identifiers
Aliases	GJA1, AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA, gap junction protein alpha 1, EKVP3
External IDs	OMIM: 121014; MGI: 95713; HomoloGene: 136; GeneCards: GJA1; OMA:GJA1 - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	121,449,727 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	56,278,609 bp
RNA expression pattern
	Top expressed in
	external globus pallidus; ; dorsal motor nucleus of vagus nerve; ; hair follicle; ; parietal pleura; ; vulva; ; human penis; ; skin of thigh; ; Region I of hippocampus proper; ; skin of hip; ; decidua;
	Top expressed in
	ciliary body; ; cumulus cell; ; iris; ; gastrula; ; hair follicle; ; body of femur; ; molar; ; decidua; ; condyle; ; otic placode;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	gap junction channel activity involved in cardiac conduction electrical coupling; gap junction channel activity involved in cell communication by electrical coupling; protein domain specific binding; SH3 domain binding; ion transmembrane transporter activity; PDZ domain binding; transmembrane transporter activity; protein binding; connexin binding; gap junction channel activity; signal transducer activity; disordered domain specific binding;
Cellular component	cytoplasm; endosome; membrane; focal adhesion; mitochondrion; multivesicular body; mitochondrial outer membrane; endoplasmic reticulum; membrane raft; lysosome; fascia adherens; extracellular exosome; integral component of membrane; late endosome; Golgi apparatus; plasma membrane; early endosome; gap junction; Golgi-associated vesicle membrane; endoplasmic reticulum membrane; Golgi membrane; integral component of plasma membrane; cell junction; connexin complex; intercalated disc;
Biological process	muscle contraction; positive regulation of protein catabolic process; regulation of bicellular tight junction assembly; cell communication; cellular response to mechanical stimulus; vascular transport; gap junction assembly; positive regulation of cell communication by chemical coupling; negative regulation of wound healing; negative regulation of cell population proliferation; apoptotic process; heart development; negative regulation of cell growth; positive regulation of vasoconstriction; positive regulation of glomerular filtration; negative regulation of cardiac muscle cell proliferation; chronic inflammatory response; neuron projection morphogenesis; response to glucose; response to fluid shear stress; atrial cardiac muscle cell action potential; transmembrane transport; positive regulation of behavioral fear response; negative regulation of DNA biosynthetic process; positive regulation of insulin secretion; regulation of calcium ion transport; ATP transport; positive regulation of cytosolic calcium ion concentration; cell-cell signaling; cell communication by electrical coupling involved in cardiac conduction; response to peptide hormone; negative regulation of endothelial cell proliferation; ion transmembrane transport; protein complex oligomerization; endothelium development; response to pH; positive regulation of I-kappaB kinase/NF-kappaB signaling; signal transduction; response to ischemia; response to lipopolysaccharide; response to retinoic acid; decidualization; cell communication by electrical coupling; epididymis development; regulation of transmembrane transporter activity; cellular response to parathyroid hormone stimulus; transport;
	Sources:Amigo / QuickGO
Orthologs
	2697
	14609
	ENSG00000152661
	ENSMUSG00000050953
	P17302
	P23242
	NM_000165
	NM_010288
	NP_000156
	NP_034418
	Wikidata
View/Edit Human	View/Edit Mouse

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular communication (GJIC) between cells to regulate cell death, proliferation, and differentiation. As a result of its function, GJA1 is implicated in many biological processes, including muscle contraction, embryonic development, inflammation, and spermatogenesis, as well as diseases, including oculodentodigital dysplasia (ODDD), heart malformations, and cancers.