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Protein Page:
GJA5

Overview
GJA5 One 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. Defects in GJA5 are a cause of familial atrial standstill (FAS). Atrial standstill is an extremely rare arrhythmia, characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. Defects in GJA5 are the cause of familial atrial fibrillation type 11 (ATFB11). ATFB11 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Belongs to the connexin family. Alpha-type (group II) subfamily. 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: 3 F2.1|3 42.04 cM
Cellular Component: cell junction; cell projection; connexin complex; gap junction; integral component of membrane; integral component of plasma membrane; intercalated disc; membrane; plasma membrane
Molecular Function: gap junction channel activity; gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling; gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling; gap junction channel activity involved in cardiac conduction electrical coupling; gap junction hemi-channel activity
Biological Process: artery morphogenesis; atrial cardiac muscle cell to AV node cell communication by electrical coupling; atrial septum development; atrial ventricular junction remodeling; AV node cell to bundle of His cell communication; AV node cell to bundle of His cell communication by electrical coupling; blood vessel development; bundle of His cell to Purkinje myocyte communication by electrical coupling; cardiac conduction system development; cell communication; cell communication by chemical coupling; cell communication by electrical coupling; cell communication by electrical coupling involved in cardiac conduction; cell communication involved in cardiac conduction; embryonic heart tube development; embryonic limb morphogenesis; gap junction assembly; mitral valve development; negative regulation of blood pressure; negative regulation of glomerular filtration; outflow tract morphogenesis; positive regulation of blood vessel diameter; positive regulation of cell communication by chemical coupling; positive regulation of vasoconstriction; potassium ion transport; protein oligomerization; pulmonary valve formation; regulation of atrial cardiac muscle cell action potential; regulation of AV node cell action potential; regulation of blood vessel diameter; regulation of bundle of His cell action potential; regulation of heart rate by cardiac conduction; regulation of membrane depolarization during cardiac muscle cell action potential; regulation of Purkinje myocyte action potential; regulation of renin secretion into blood stream; regulation of systemic arterial blood pressure; renal system process involved in regulation of systemic arterial blood pressure; SA node cell action potential; septum primum development; skeletal system development; vasomotion; ventricular cardiac muscle cell action potential; ventricular septum development
Reference #:  Q01231 (UniProtKB)
Alt. Names/Synonyms: 5730555N10Rik; Cnx40; connexin 40; Connexin-40; Cx40; CXA5; Cxn-40; Gap junction alpha-5 protein; gap junction membrane channel protein alpha 5; gap junction protein, alpha 5; Gja-5; Gja5; OTTMUSP00000024800
Gene Symbols: Gja5
Molecular weight: 40,413 Da
Basal Isoelectric point: 8.48  Predict pI for various phosphorylation states
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GJA5

Protein Structure Not Found.
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