Names & Taxonomy

Uniprot ID:
P17302
Entry Name:
CXA1_HUMAN
Status:
reviewed
Protein Names:
Gap junction alpha-1 protein (Connexin-43) (Cx43) (Gap junction 43 kDa heart protein)
Gene Names:
GJA1 GJAL
Gene Names Primary:
GJA1
Organism:
Homo sapiens (Human)

Structure

Length:
382
Sequence:
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRVKGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Cell membrane

Function

Function:
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 (By similarity). 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 (By similarity).
Cross Reference Drug Bank:
DB01136
Gene Ontology Go:
apical plasma membrane
connexon complex
contractile fiber
cytosol
early endosome
endoplasmic reticulum membrane
extracellular exosome
fascia adherens
focal adhesion
gap junction
Golgi apparatus
Golgi membrane
Golgi-associated vesicle membrane
integral component of plasma membrane
intercalated disc
intermediate filament
late endosome
lateral plasma membrane
lysosome
membrane raft
mitochondrial outer membrane
mitochondrion
multivesicular body
plasma membrane
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
ion transmembrane transporter activity
signal transducer activity
adult heart development
apoptotic process
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 mechanical stimulus
chronic inflammatory response
embryonic digit morphogenesis
endothelium development
epithelial cell maturation
gap junction assembly
heart development
heart looping
in utero embryonic development
ion transmembrane transport
lens development in camera-type eye
membrane organization
milk ejection
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 cell communication by chemical coupling
positive regulation of cytosolic calcium ion concentration
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
positive regulation of vasodilation
protein oligomerization
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 heart rate
regulation of ventricular cardiac muscle cell membrane depolarization
regulation of ventricular cardiac muscle cell membrane repolarization
response to fluid shear stress
response to glucose
response to peptide hormone
response to pH
signal transduction
skeletal muscle tissue regeneration
transport
vascular transport
Gene Ontology Biological Process:
adult heart development
apoptotic process
ATP transport
atrial cardiac muscle cell action potential
atrial ventricular junction remodeling
blood vessel morphogenesis
cell-cell signaling
cell communication by chemical coupling
cell communication by electrical coupling
cell communication by electrical coupling involved in cardiac conduction
cellular response to mechanical stimulus
chronic inflammatory response
embryonic digit morphogenesis
endothelium development
epithelial cell maturation
gap junction assembly
heart development
heart looping
in utero embryonic development
ion transmembrane transport
lens development in camera-type eye
membrane organization
milk ejection
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 cell communication by chemical coupling
positive regulation of cytosolic calcium ion concentration
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
positive regulation of vasodilation
protein oligomerization
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 heart rate
regulation of ventricular cardiac muscle cell membrane depolarization
regulation of ventricular cardiac muscle cell membrane repolarization
response to fluid shear stress
response to glucose
response to peptide hormone
response to pH
signal transduction
skeletal muscle tissue regeneration
transport
vascular transport
Gene Ontology Molecular Function:
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
ion transmembrane transporter activity
signal transducer activity
Gene Ontology Cellular Component:
apical plasma membrane
connexon complex
contractile fiber
cytosol
early endosome
endoplasmic reticulum membrane
extracellular exosome
fascia adherens
focal adhesion
gap junction
Golgi apparatus
Golgi-associated vesicle membrane
Golgi membrane
integral component of plasma membrane
intercalated disc
intermediate filament
late endosome
lateral plasma membrane
lysosome
membrane raft
mitochondrial outer membrane
mitochondrion
multivesicular body
plasma membrane
Keywords:
3D-structure
Cataract
Cell junction
Cell membrane
Complete proteome
Disease mutation
Disulfide bond
Endoplasmic reticulum
Gap junction
Hypotrichosis
Isopeptide bond
Membrane
Palmoplantar keratoderma
Phosphoprotein
Polymorphism
Reference proteome
S-nitrosylation
Transmembrane
Transmembrane helix
Ubl conjugation
Interacts With:
Q02487-1; Q07157

Publication

PubMed ID:
1696265 1646158 10581143 14702039 14574404 15489334 9430691 15181016 15213231 14702389 10764404 8873667 9155619 9443444 11741837 12270943 16112082 15605363 16816024 12457340 21406692 22411987 25168385 25398053 7715640 11470490 15108203 14974090 14729836 15637728 16222672 16219735 15978203 15757815 16378922 16813608 16709485 17509830 18161618 19338053 21670345 23550541 23951358 24508941