Disease relevance of GJA1P1

• Gap junction-mediated bystander effect in primary cultures of human malignant gliomas with recombinant expression of the HSVtk gene [1].
• Gap junction intercellular communication capacity and connexin expression are reportedly decreased in human lung cancer [2].
• INTRODUCTION: Gap junction alterations recently have been implicated in chronic heart failure, but direct evidence between gap junction manifestation in nonischemic dilated cardiomyopathy (DCM) is lacking [3].
• In both deletion and nondeletion forms of alpha thalassemia, only the alpha 1 RNA and establish the normal pattern of relative alpha-gene expression during development independent of protein variants [4].
• Enhancement by an ACE inhibitor of first-dose hypotension caused by an alpha 1-blocker [5].

Psychiatry related information on GJA1P1

• Role of central alpha-1 adrenoceptors in canine narcolepsy [6].
• The role of central alpha-1 adrenergic receptors in cataplexy was investigated in genetically narcoleptic Doberman pinschers [6].
• It was shown that the descending noradrenergic systems were facilitatory to the motor system, and that alpha 1-antagonistic action at the spinal cord and alpha 2-agonistic action at the brainstem inhibited spinal motor activity by blocking spinal alpha 1-receptors and by reducing the release of noradrenaline in the spinal cord, respectively [7].
• Effect of electroconvulsive therapy on serum concentration of alpha-1-acid glycoprotein [8].
• alpha-calcium-calmodulin-dependent kinase II is associated with paired helical filaments of Alzheimer's disease [9].

High impact information on GJA1P1

• Gap junction channels are responsible for direct intercellular transfer of ions and small molecules including propagation of inositol trisphosphate-dependent calcium waves [10].
• A B cell lymphoma-associated chromosomal translocation, t(10;14)(q24;q32), juxtaposes the immunoglobulin C alpha 1 locus to a novel gene, lyt-10 [11].
• Chromosomal translocation generates an lyt-10-C alpha 1 fusion gene coding for a protein that retains the rel effector domain, lacks the ankyrin regulatory domain, and binds kappa B sequences in vitro, suggesting its constitutive activation in vivo [11].
• Antiepileptic drugs and alpha 1-acid glycoprotein [12].
• In normal adult reticulocytes, alpha 2 RNA is slightly more abundant than the alpha 1 species (ratio 60:40) [4].

Chemical compound and disease context of GJA1P1

• The major component of human alpha 1-acid glycoprotein found in plasma is coded by AGP-A, which is expressed in liver and in hepatoma cell lines and is induced by inflammatory stimuli [13].
• For various reasons, the alpha 1-receptor blocker prazosin has been used infrequently as initial therapy for hypertension [14].
• Using the dorsal hand vein compliance technique we compared the changes in diameter of superficial veins in response to phenylephrine, an alpha 1 adrenergic receptor agonist, and to nitroglycerin, a venorelaxant, in patients with essential hypertension and in normotensive subjects [15].
• Treatment of narcoleptic dogs with 25-600 micrograms/kg prazosin, a selective alpha-1 adrenergic receptor blocker, exacerbated cataplexy, whereas treatment with the alpha-1 agonist, methoxamine, ameliorated it [6].
• Thus, the alpha 1/beta 1 and alpha 6/beta 1 integrin heterodimers each function as LN receptors and act together to mediate the interactions of human JAR choriocarcinoma cells with LN [16].

Biological context of GJA1P1

• Gap junction-independent, ATP-dependent intercellular calcium waves were also seen in hamster tracheal epithelia cells [17].
• Gap junction proteins, termed connexins, constitute a multigene family of polytopic membrane channel proteins that have four hydrophobic transmembrane domains with the N- and C-termini located on the cytoplasmic membrane face [18].
• Gap junction protein phenotypes of the human heart and conduction system [19].
• Gap junction intercellular communication has been implicated in the regulation of various cellular processes, including cell migration, cell proliferation, cell differentiation, and cell apoptosis [20].
• v-Src Tyrosine Phosphorylation of Connexin43: Regulation of Gap Junction Communication and Effects on Cell Transformation [21].

Anatomical context of GJA1P1

• Gap junction channel activity in short-term cultured human detrusor myocyte cell pairs: gating and unitary conductances [22].
• Gap junction protein connexin 43 serves as a negative marker for a stem cell-containing population of human limbal epithelial cells [23].
• Sphingosine 1-Phosphate Induces Myoblast Differentiation through Cx43 Protein Expression: A Role for a Gap Junction-dependent and -independent Function [24].
• Gap junction protein connexin-43 interacts directly with microtubules [25].
• Gap junction-mediated cell coupling in different connexin-transfected HeLa cells was standardized by measuring the spreading of microinjected Mn(2+) that led to local quenching of FURA-2 fluorescence [26].

Associations of GJA1P1 with chemical compounds

• Gap junction function in vascular smooth muscle: influence of serotonin [27].
• Gap junction mediated intercellular communication was assessed with microinjections and FACS analysis of calcein transfer [28].
• To ascertain if the features of osteogenesis imperfecta could be due to an abnormality in two genetically distinct collagens, Type III and Type I, we measured, in pepsin digests of skin, the ratio of the alpha 1, (III) to alpha 1 (I) chains derived from the two types, using a method of interrupted polyacrylamide-gel electrophoresis [29].
• The crystal structure of the rat alpha 1 thyroid hormone receptor ligand-binding domain bound with a thyroid hormone agonist reveals that ligand is completely buried within the domain as part of the hydrophobic core [30].
• Retinoic acid induction of type IV alpha-1 collagen and Hox-1.3 RNAs is observed with these clones [31].

Regulatory relationships of GJA1P1

• Gap junction formation between cultured embryonic lens cells is inhibited by antibody to N-cadherin [32].
• Gap junction communications influence upon fibroblast synthesis of Type I collagen and fibronectin [33].
• Gap junction uncoupling in bradykinin-stimulated porcine coronary endothelial cells was prevented by inhibiting the activation of extracellular signal-regulated kinase (ERK)1/2 [34].

Other interactions of GJA1P1

• CONCLUSIONS: Gap junction communication in the human corneal epithelium is mediated by Cx26, -30, -31.1, and -43 [35].
• Molecular genetic studies revealed a novel GJA1 mutation affecting the amino terminus of the gap junction protein alpha-1 (Cx43) [36].
• Gap junction channels formed by connexin 50 (Cx50) are critical for maintenance of lens transparency [37].

Analytical, diagnostic and therapeutic context of GJA1P1

• Gap junction formation was observed by electron microscopy and the numbers of gap junctions were analysed quantitatively [38].
• Gap junction plaques were counted on the cell surface by immunolabeling of Cx43 using confocal microscopy [39].
• Sequence analysis of alpha 2 and alpha 1 3' flanking regions further reveals that the alpha-globin gene duplication units are exactly bordered by this homologous sequence [40].
• Restriction enzyme mapping established the origin of the alpha-thalassemia gene as the more 3' of the normal, duplicated alpha genes (alpha 1) [41].
• Immunofluorescence analysis of the GBM showed the absence of type IV collagen alpha-3, alpha-4, and alpha-5 chains and a persistence of alpha-1 and alpha-2 chains (these chains normally localize to the mesangial matrix) [42].

References