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Validated All-in-One™ qPCR Primer for NPHS1(NM_004646.3) Search again
Product ID:
HQP102946
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CNF, NPHN, nephrin
Gene Description:
NPHS1 adhesion molecule, nephrin
Target Gene Accession:
NM_004646.3(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
Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM].
Gene References into function
- function in the slit diaphragm and glomerular filtration
- Mutations interact with NPHS2 protein to produce either nephrotic syndrome or focal glomerosclerosis, depending on alleles.
- A missense mutation of the nephrin gene (GAC-to-GTC transversion leading to Asp819Val)impairs targeting of the protein to the cell membrane and causes congenital nephrotic syndrome of the Finnish type (CNF).
- co-localization of podocin, this protein and the actin cytoskeleton: evidence for a role in podocyte foot process formation.
- Nephrin protein and mRNA are differentially expressed in acquired proteinuric diseases according to the specific glomerular disease or severity of glomerular damage.
- investigation of the expression of nephrin in human kidney tissue from patients with diabetic nephropathy to elucidate its relationship with proteinuria and the effects of anti-proteinuric therapy with angiotensin converting enzyme inhibition
- The loss of function of the nephrin gene is the main cause of congenital nephrotic syndrome of the Finnish type in Italian patients.
- This study does not support an involvement of the coding region of the nephrin gene in the pathogenesis of diabetic nephropathy in type 1 diabetic patients.
- study indicates that the alteration in nephrin expression is an early event in proteinuric patients with diabetes and suggests that glycated albumin and angiotensin II contribute to nephrin downregulation
- Nephrin is a signaling protein phosphorylated by Src family kinases.
- This study suggests that the NPHS1 G349A polymorphism may be associated with heavy proteinuria and a decline in renal function in patients with IgAN.
- Abnormal distribution of nephrin, podocin, and alpha-actinin were found in children with nephrotic syndrome.
- Nephrin molecules exhibit homophilic interactions that could promote cellular contacts through direct nephrin-nephrin interactions.
- The expression of nephrin mRNA maybe closely linked to the development and progression of proteinuria in diabetic nephropathy.
- an alteration in nephrin expression is not a feature of acquired forms of nephrotic syndrome in childhood.
- heterozygous allelic variants leading to nonconservative amino acid substitutions not previously reported in minimal change nephrotic syndrome
- Extracellular nephrin mRNA and protein were markedly reduced in diabetic patients.
- Interaction of vascular endothelial growth factor with nephrin in cultured human podocytes reduced apoptosis.
- Recombinant WT1 protein can bind and activate the 186-bp NPHS1 fragment in a sequence-specific manner. WT1 may be required for regulation of the NPHS1 gene in vivo.
- NPHN contributes to a porous slit diaphragm scaffold, the molecular filter in renal glomerular capillaries.
- To characterize the structural properties and protein-protein interactions of the nephrin intracellular domain, we produced a series of recombinant nephrin proteins which all bound previously identified ligands
- exposure to normal and non-nephrotic human plasma leads to a concentration of nephrin, podocin, CD2AP, and actin at the cell surface in podocytes
- Mutations are not a major cause of congenital nephrotic syndrome in Japanese patients.
- serum and plasma factors from focal segmental glomerulosclerosis patients may directly affect nephrin and podocin in human podocytes
- Nephrin is expressed at protein and mRNA levels in islet microvascular endothelium.
- data show that PPARalpha activation causes an increased nephrin expression by a dual action, on the one hand by stimulating nephrin promoter activity and on the other hand by reducing nephrin mRNA degradation
- nephrin selectively binds the Src homology 2 (SH2)/SH3 domain-containing Nck adaptor proteins, which in turn control the podocyte cytoskeleton in vivo
- nephrin phosphorylation results in Src kinase activation, recruitment of Nck, and assembly of actin filaments in an Nck-dependent fashion
- Association of single 3 nucleotide polymorphisms with type 2 diabetes.
- A striking finding in this study is the lack of contribution of NPHS1, NPHS2, and NEPH1 genes in 15 Asian families with steroid-resistant nephrotic syndrome.
- Results suggest that nephrin Y1193 serves as a molecular switch that determines the integrity of the slit diaphragm by functional competition between beta-arrestin2 and podocin.
- Mutations may play pathogenetic roles in some patients with sporadic steroid resistant nephrotic syndrome.
- We conclude that down-regulation of nephrin and synaptopodin is associated with proteinuria in women with preeclampsia.
- Mutated in nephrotic syndrome in an 11-year old boy.
- Knocking nephrin down with siRNA in wild-type podocytes abrogated the insulin response, and stable nephrin transfection of nephrin-deficient podocytes rescued their insulin response.
- 3 novel mutations: c.1138C>T (p.Gln380X), c.2160_ 2161insC (p.Cys721fs) and c.1707C>G (p.Ser569Arg)were identified in a highly inbred community; patients were either homozygous for one mutation or compound heterozygotes; they differed in their phenotype
- Nephrin-Neph1 complex transduces phosphorylation-mediated signals that assemble an actin polymerization complex at the podocyte intercellular junction.
- Any one of three phosphorylated (p)YDXV motifs on nephrin is sufficient to recruit Nck through its Src homology 2 (SH2) domain and induce localized actin polymerization at these clusters.
- Neph1 but not nephrin specifically binds to adaptor protein Grb2 and tyrosine kinase Csk in a phosphorylation-dependent manner.
- Reduction of endogenous nephrin expression by application of siRNA to differentiated cells of an immortalized podocyte cell line markedly reduced steady-state surface expression of Slo1.
- Thirteen novel NPHS1 mutations have been analyzed in a large cohort of children with congenital nephrotic syndrome.
- Neph1-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity
- mutations in NPHS1 were linked to later age of onset and milder couse of disease