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Validated All-in-One™ qPCR Primer for GJA1(NM_000165.4) Search again
Product ID:
HQP088502
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
Gene Description:
gap junction protein alpha 1
Target Gene Accession:
NM_000165.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations. [provided by RefSeq].
Gene References into function
- This evidence adds Cx-43 to the list of transmembrane proteins capable of transducing survival signals in response to extracellular cues and raises the possibility that it may serve in this capacity for endogenously produced molecules or even other drugs
- results demonstrate a new role of Cx43 in the mediation of apoptosis under low serum conditions
- The fast transjunctional voltage-sensitive gating mechanism of Cx43 cell-cell channel can serve as a selectivity filter, which allows electrical coupling but limits metabolic communication.
- homocysteine (Hcy)-induced upregulation of Cx43 transcript and protein expression are associated with unaltered intercellular communication and redistribution of Cx43 in HUVEC
- Connexin 43 suppresses human glioblastoma cell growth by down-regulation of monocyte chemotactic protein 1, as discovered using protein array technology.
- overexpression of Cx43 or Cx26 in breast cancer cells down-regulated fibroblast growth factor receptor-3
- Data suggest that the dynamic changes of connexins 43, 40 and 45 during mouse cardiac development appear to be mirrored in the human.
- Results establish a role for connexin43 hemichannels in bisphosphonate action, and a novel function of connexin43 in the regulation of survival signaling pathways.
- Results provide evidence for Cx43 being targeted to lysosomes as a result of misfolding and aggregation, while in other cases, the delivery of wild-type Cx43 to lysosomes appears to be due to defects innate to the breast tumor cell type.
- and expression of the transcription factor E2F1 correlated inversely with tumor grade
- alpha-catenin facilitates trafficking of connexins 32 and 43 to the cell surface and induces gap junction assembly
- Our data show that the presence of Cx43 allows an inter-trophoblastic GJIC and is associated with the fusion process leading to the villous syncytiotrophoblast
- abnormal expression of connexin43 and connexin45 in nasopharynx tissues may be associated with cancerization and squamatization of human nasopharynx tissue
- We found mutations in the GJA1 gene in all 17 families with oculodentodigital dysplasia that we screened.
- These findings suggest that expression of Cx26 and Cx43 might be related to the differentiation of the arachnoid villi and meningiomas, and exhibit the different origin of various subtypes of meningiomas.
- Connexin 43 in human teeth. Tooth development, Cx43 in epithelial and mesenchymal dental cells. Adult teeth, Cx43 in odontoblasts. Cx43 downregulated in mature teeth, upregulated in odontoblasts facing caries. In dental pulp Cx43 in mineralized nodules.
- plasma membrane localization and formation of channels are not required for growth inhibition by Cx43, and nuclear localization of CT-Cx43 may exert effects on gene expression and growth
- Focal disorganization of gap junction distribution and downregulation of Cx43 are typical of myocardial remodeling that may play an important role in the development of an arrhythmogenic substrate in human cardiomyopathies
- connexin 43 gap junction communication induced by EGF is regulated by ERK5
- the transcriptional up-regulation of Cx43 by Ras-Raf-MAPK is mediated via the interaction of a novel Cx43 promoter element with a protein complex that contains both HSP90 and c-Myc.
- gap junctional intercellular communication in hepatocellular carcinoma cell lines, and signal transduction mechanism of gap junction genes connexin32, connexin43 in hepatocarcinogenesis
- the tyrosine-based motif of human connexin43 is a prime determinant controlling connexin43 stability, and consequently GJC, by targeting connexin43 for degradation in the endocytic/lysosomal compartment.
- proteasomal degradation regulates the stability of phosphorylated Cx43 and appears to promote the internalization of Cx43 from the cell surface
- Cx43 is directly involved in human trophoblast cell-cell communication, fusion and differentiation.
- the point mutations in the second extracellular region of Cx43 do not affect the ability of the mutant proteins in vitro to suppress cell growth
- mouse connexin43 promoter is regulated by GDF5 in osteoblasts ans embryos
- connexin 43 is phosphorylated in ovarian tumor cells and has a role in gap junctional intercellular communication
- examination of gating and regulation of hemichannels
- Cx43 mRNA in adjacent normal tissue surrounding lung tumor simply detected by RT-PCR may act as a molecular marker of nodal micrometastasis in non-small cell lung cancer.
- Heterogeneous expression of Cx 43 protein may contribute to impaired ventricular conduction.
- mRNA levels of connexins in different sizes of luteinized normal and hyperstimulated follicles.
- Opening of non-junctional connexin 43 (Cx43) hemichannels plays a role in cell physiology
- Low doses of ionizing radiation induce the transcriptional upregulation of connexin 43 expression employing NFAT and AP1 sites.
- A missense mutation in the cytoplasmic loop of GJA1 results in an atypical ophthalmological phenotype, displaying type III syndactyly but not the characteristic dental or skeletal features.
- Staining for Cx43 and Cx40 along regions of intimate cell-to-cell contact between human mesenchymal stem cells.
- Homozygous GJA1 point mutations in a conserver codon, one base change results in a Oculodentodigital dysplasia phenotype in one patient, another base change in the same codon resultes in a Hallermann-Streiff syndrome phenotype in another patient.
- the downregulation of Cx43 is an important event in human wound healing.
- Cx43 is able to regulate cell growth via an up-regulation of NOV transcription
- mRNA level correlates with cell differentiation, nd is predictive of postoperative recurrence in hepatocellular carcinoma.
- PKC-dependent phosphorylation of Cx43 at S368 creates dynamic communication compartments that can temporally and spatially regulate wound healing.
- In nonischemic heart failure in humans, there is a decrease in both Cx43 expression and phosphorylation that contributes to uncoupling.
- The connexin 43 expression was seen in the circular layer of muscularis externa.
- charged residues present in Cx43 and related connexins help prevent endoplasmic reticulum oligomerization by stabilizing the third transmembrane domain in the membrane bilayer
- existence of internal ribosome entry sites in connexin mRNAs permits connexin expression in density-inhibited or differentiated cells, where cap-dependent translation is generally reduced
- Connexin43 is increased in vitro during process of intimal hyperplasia, supporting a critical role for Cx43-mediated gap-junctional communication in the human vein during the development of intimal hyperplasia.
- Phosphorylated Cx43, is up-regulated in hyperplasias and dysplasias and fibroadenoma and is strongly up-regulated in invasive carcinomas.
- These data suggest that Cx43del(130-136) produces connexin-specific inhibition of intercellular communication through formation of heteromeric connexons that are non-functional and/or retained in the cytoplasm.
- study demonstrated for the first time that Cx43 protein can be localized at the cell-cell interface between endothelial cells and tumor cells during the process of diapedesis
- Disturbances in both the expression and distribution of Cx43 were found in children with tetralogy of Fallot
- aquaporin-4 has species-specific roles in astrocytes and a functional relationship with Connexin43
- These results suggest that the newly identified domain is essential for the proper phosphorylation and localization of Cx43, and CIP150 is a novel partner protein targeting this domain.
- Our results demonstrate a new mutation (P59H) in the GJ1A gene, identified in a family with ODDD (oculodentodigital dysplasia) syndrome.
- These results suggest that gap junctional intercellular communication and expression of Cx43 contribute to alkaline phosphatase activity, as well as osteocalcin, osteopontin, and Cbfa1 expression in osteoblastic cells.
- This is the first study to demonstrate that flow simultaneously and differentially regulates expression of the Cx37, Cx40, and Cx43 proteins.
- GJA1 mutations is associated with oculo-dento-digital dysplasia
- Cx26 and Cx43 have roles in closed gap junction channel formation
- This study evaluated whether the gap junction protein connexin (Cx) 43 could serve as a negative cell surface marker for human corneal epithelial stem cells. Cx43 expression was evaluated in corneo-limbal tissue and primary limbal epithelial cultures.
- Results demonstrate that TGF-beta1 significantly up-regulates connexin 43 expression and intercellular communication, in concert with increased expression of alpha-actin, calponin and SM1.
- revealed a significant influence of cardiopulmonary bypass and the underlying heart defect on Cx43 expression
- Results showed that Cx43 was phosphorylated during lung tumorigenesis.
- The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively.
- Detected with RT-PCR profiling in ovarian cancer cells.
- High expression of connexin 43 & syndecan 3 & their co-localization to smooth muscle bundles during normal labour, with significant reduction in prolonged labour, may indicate a role for these proteins in co-ordination of myometrial contractility.
- downregulation of Cx43 expression by high glucose promotes the senescence of glomerular mesangial cells, which may be involved in the pathogenesis of diabetic nephropathy
- The present review highlights the emerging role of connexin43 in the physiology and physiopathology of human erectile function and its possible medical application.
- Cx43 expression and cell-to-cell communication increased in response to high glucose and may protect the collecting duct from renal damage associated with more established diabetic nephropathy.
- Conditional expression of AML1-ETO by the ecdysone-inducible system dramatically increases the expression of connexin 43 together with growth arrest at G1 phase in leukemic U937 cells.
- Oculodentodigital syndrome is inherited as an autosomal dominant trait, results from missense mutations in the gap junction protein connexin 43.
- connexin 43 is downregulated in Sertoli cells and germ cells during the transition from preinvasive carcinoma in situ to seminoma
- Cx43 plays a role as a tumor suppressor, however, no definite correlation was found between Cx43 and cell migration and invasion.
- Based on these data, we propose a working hypothesis in which Cx43 could be an intermediate target for T3 inhibition of neonatal Sertoli cell proliferation.
- These findings suggested that the brain may generate neuronal protection by increasing the levels of Cx43 and amplifying the astrocytic gap junctional intercellular communication under hypoxic condition.
- the 46 aberrant amino acid residues of GJA1 associated with the frameshift mutant are, at least in part, responsible for the manifestation of palmoplantar keratoderma symptoms
- We conclude that activation of the innate immune response in astrocytes is associated with functional loss of CX43 through a pathway involving NF-kappaB and PI3 kinase.
- Inhibition of Cx43 function in high expressing cells led to an increase in drug resistance.
- A rational strategy for treating patients with advanced hormone refractory prostate cancer using CX43 gene therapy and docetaxel.
- Cx43 was colocalized with actin in tenocytes; colocalization increased significantly after cyclic strain
- Cx40/Cx45 junctions demonstrate electrical signal transfer asymmetry that can be modulated between unidirectional and bidirectional by small changes in the difference between holding potentials of the coupled cells.
- Cx43 expression may be in part responsible for the malignancy of hepatoma cells through a decrease in GJIC composed of Cx32
- The potency difference in the dominant negative properties of Cx43 mutants may have clinical implications for the various symptoms and disease severity observed in oculodentodigital dysplasia patients.
- Cx43 expression level could influence the action of Endothelin-1 on human osteoblastic cell differentiation
- the interaction between Cx43 and ZO-1 is regulated by the proteasome
- Activation of the EGFR pathway in response to HP leads to decrease of GJIC via tyrosine phosphorylation of Cx43 in ONH astrocytes. In glaucoma, astrocytes may lose GJIC altering the homeostasis of RGC axons.
- as in primary cultured limbal epithelial cells, Cx43 expression and extent of GJIC may serve as markers for the differentiation status of nasal epithelial cells.
- Connexin43 expression can be influenced by Ang II and IGF-1 through ERK and p38 pathways and may contribute to the pathogenesis of vein graft disease following coronary artery bypass grafting.
- the increased hemichannel activity may be directly caused by an altered conformation of the mutated channel forming protein in patiets with oculodentodigital dysplasia
- It is concluded that in patients with heart failure, down-regulation of ZO-1 matches the diminished expression levels of connexin 43, suggesting that ZO-1 plays an important role in gap junction formation and gap junction plaque stability.
- levels of connexin-43 are below those detectable by immunofluorescence
- The connexin 43 density was significantly increased in the mid-myocardium of transgenic hearts compared with wild type in hypertrophic cardiomyopathy
- In myometrial smooth muscle cells, corticotropin-releasing hormone (CRH)enhances Cx43 mRNA and protein expression through upregulation of c-Fos expression. Blockade of AP-1 sites to the Cx43 promoter can neutralize the CRH-induced upregulation of Cx43.
- Physiological concentrations of intracellular Ca(2+) regulate the permeability of Cx43 in a calmodulin-dependent manner that does not require the major portion of the COOH terminus of Cx43.
- CaM binds to a specific region of the ubiquitous gap junction protein Cx43 in a Ca(2+)-dependent manner, providing a molecular basis for the well characterized Ca(2+)-dependent inhibition of Cx43-containing gap junctions
- This study investigates the responses of endothelial connexin 37, connexin 40, and connexin 43 (Cx37, Cx40, and Cx43) to shear stress and substrate.
- Cx43 hyperphosphorylation induced by UVA is, at least in part, mediated through mitogen-activated protein kinase (MAPK) activation as Ser279 and Ser282 sites, two downstream direct targets of p38 MAPK found to be phosphorylated after UVA treatment.
- Findings suggest that ZO-1, by interacting with Cx43, plays a role in the down-regulation and decreased size of Cx43 gap junctions in congestive heart failure.
- These findings indicate that Cx43 contributes to RPE differentiation via cAMP signaling.
- A novel connexin43-interacting protein, CIP75, which belongs to the UbL-UBA protein family, regulates the turnover of connexin43
- found in the myocytes, but not fibroblasts, of the atrioventricular junction
- review of autosomal dominant mutations of the genes encoding Cx26 and Cx43 [review]
- Oculodentodigital dysplasia is caused by heterozygous mutations in the 6q22-q23 located GJA1 gene, that encodes connexin 43
- Connexin 43 was absent or decreased in testis of humans with impaired spermatogesis.
- The Cx43/Cavs association occurs during exocytic transport, and they clearly indicate that caveolin regulates gap junctional intercellular communication.
- Overexpression of Cx43 is associated with breast cancer cell metastatic potential
- Polarized Caco-2/TC7 cells express significant amounts of Cx26, Cx32 and Cx43.
- germ line reduction of Cx43-based gap junctional intercellular communication leads to impaired osteoblast differentiation, which may account for the bone phenotypes observed in oculodentodigital dysplasia patients
- These results identify JNK, and not NFkappaB, as a critical mediator of TNF-alpha repressory effect on connexin 43 gene expression.
- These data demonstrate the role of Cx43 in the proliferation and migration of human saphenous vein smooth muscle cells and angiotensin II-induced Cx43 expression via mitogen-activated protein kinases (MAPK)-AP-1 signaling pathway.
- We report here the first case of oculodentodigital dysplasia (ODDD) in a black African person, and the first case with taurodontism in ODDD, associated with a novel GJA1 mutation.
- These data suggest that changes are apparent in markers for abnormal glial-neuronal communication (connexin 43 and aquaporin 4) in brains of subjects with autism.
- Report activation of endothelial cells to pathological status by down-regulation of connexin43.
- the level of expression, the localization and the functionality of connexin43 (Cx43) in three glioblastoma cell lines. Cx43 was responsible for the gap-junctional intercellular communication and thebystander effect
- domain-swapped dimerization of zonula occludens-1 PDZ2 generates a distinct interface that functions together with the well-separated canonical carboxyl tail-binding pocket in each PDZ unit in binding to connexin43 (Cx43)
- Upregulation in tumor cell-endothelial cell contact areas in vitro and in vivo, and in areas of intratumor blood vessels and in micrometastatic foci
- Our evaluation not only expands the phenotypes associated with GJA1 gene mutations but also demonstrates that a great degree of variability in neurological defects.
- Clathrin associates with both connexin 43 gap junction plaques and pentilaminar gap junction vesicles.
- Cx43 is present in human bladder tissue both of overactive bladders and those of controls. However, it is expressed in very small amounts and is not always detectable. The role of Cx43 for the origin of detrusor overactivity remains unclear.
- Cx43 mediates the expression of an array of genes involved in human cardiogenesis, in addition to intercellular communication.
- Reduced expression of connexin 43 is associated with lung metastasis in breast cancer
- mutations underlie oculodentodigital syndrome
- Over-expression of connexin 43 significantly induced E-cadherin expression