Gap junction protein, alpha 1

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
External IDs	OMIM: 121014 MGI: 95713 HomoloGene: 136 GeneCards: GJA1
Targeted by Drug
carbenoxolone, flufenamic acid, caprylic alcohol
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 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 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 • 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 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2697	14609
Ensembl	ENSG00000152661	ENSMUSG00000050953
UniProt	P17302	P23242
RefSeq (mRNA)	NM_000165	NM_010288
RefSeq (protein)	NP_000156	NP_034418.1 NP_034418
Location (UCSC)	Chr 6: 121.44 – 121.45 Mb	Chr 10: 56.38 – 56.39 Mb
PubMed search

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

Connexin-43 internal ribosome entry site (IRES)
Predicted secondary structure and sequence conservation of IRES_Cx43
Identifiers
Symbol	IRES_Cx43
Rfam	RF00487
Other data
RNA type	Cis-reg; IRES
Domain(s)	Eukaryota
GO	0043022
SO	0000243

2LL2

2697

14609

ENSG00000152661

ENSMUSG00000050953

P17302

P23242

NM_000165

NM_010288

NP_000156

NP_034418.1
NP_034418

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.