Recombinant Human Nephrin Protein

Name: Recombinant Human Nephrin Protein
Brand: Beta LifeScience
SKU: BLA-6160P
Availability: InStock

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Host Species	Human
Accession	O60500
Synonym	CNF Nephrin Nephrosis 1 congenital Finnish type Nephrosis 1, congenital, Finnish type (nephrin) NPHN NPHN_HUMAN NPHS 1 Nphs1 Renal glomerulus specific cell adhesion receptor Renal glomerulus-specific cell adhesion receptor
Description	Recombinant Human Nephrin Protein was expressed in Wheat germ. It is a Protein fragment
Source	Wheat germ
AA Sequence	GFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPR YRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPEL
Molecular Weight	36 kDa including tags
Endotoxin	< 1.0 EU per μg of the protein as determined by the LAL method
Formulation	Liquid Solution
Stability	The recombinant protein samples are stable for up to 12 months at -80°C
Reconstitution	See related COA
Unit Definition	For Research Use Only
Storage Buffer	Shipped on dry ice. Upon delivery aliquot and store at -80°C. Avoid freeze / thaw cycle.

Target Details

Target Function	Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.
Protein Families	Immunoglobulin superfamily
Database References	HGNC: 7908 OMIM: 256300 KEGG: hsa:4868 STRING: 9606.ENSP00000368190 UniGene: PMID: 28160156 Angiotensin II has a role in increasing glomerular permeability by beta-arrestin mediated nephrin endocytosis PMID: 28004760 This prospective observational study compare urine nephrin:creatinine ratio (NCR, ng/mg) with serum soluble fms-like tyrosine kinase-1:placental growth factor ratio (FPR, pg/pg) for preeclampsia (PE) prediction among unselected asymptomatic pregnant women in 2(nd) trimester. PMID: 27874074 Outcomes of renal replacement therapy in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry PMID: 27761660 WHSC1L1-L acts as a histone methyltransferase in podocytes and regulates nephrin gene expression, which may in turn contribute to the integrity of the slit diaphragm of the glomerular filtration barrier. PMID: 28228401 Two novel putatively deleterious NPHS1 variants were identified in children with steroid-resistant nephrotic syndrome. PMID: 28476686 On genetic analysis of NPHS1 a paternally derived heterozygous frame-shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156-2163 delTGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified. PMID: 27882743 Case Reports: NPHS1 mutations in four Brazilian cases of congenital nephrotic syndrome. PMID: 26560236 The classical form is CNF, which is caused by mutations in the nephrin gene (NPHS1), leading to massive proteinuria, hypoproteinemia and edema in the newborn period PMID: 25711261 there is a link found of the glomerular protein nephrin and the antihypertensive action of angiotensin receptor antagonists in the treatment of hypertension. PMID: 25622599 A novel nonsense mutation in NPHS1 linking aortic stenosis associated with congenital nephropathy, is reported. PMID: 26174680 Activated IQGAP1, as an intracellular partner of nephrin, is involved in actin cytoskeleton organization and functional regulation of podocytes. PMID: 25652011 NPHS1 rs437168 variant is associated with nephrotic syndrome in children. PMID: 25599733 Coding variants in NPHS1 are associated with both risk for and protection from common forms of nephropathy in African Americans. PMID: 24948143 Phosphorylation of nephrin is important for the survival status of podocytes. PMID: 24515388 No pathogenic NPHS1 mutations were found in the cohort of children with steroid-resistant focal segmental glomerulosclerosis. PMID: 24856380 Proteinuria in patients with seropositive rheumatoid arthritis is associated with increased levels of urine nephrin excretion, the highest levels of nephrin excretion were registered in patients with glomerulonephritis and amyloidosis. PMID: 24848282 the frequency of identified disease causing mutations (NPHS1 and NPHS2) in children with steroid-resistant nephrotic syndome is 11.4%, and they show no response to treatment. PMID: 24413855 The results suggest that the functions of Nephrin and Podocin are highly conserved between the zebrafish pronephros and mammalian metanephros. PMID: 24337247 An Iranian boy with Finnish-type congenital nephrotic syndrome was homozygous for a 1 bp duplication near the splice acceptor site of exon 17 of the NPHS1 gene (intron 16: c.2213-2dupA homozygous mutation). His parents were heterozygous. PMID: 24089175 Congenital nephrotic syndrome associated mutations in the NPHS1 gene in two Greek patients. PMID: 24371179 In diabetic glomerulosclerosis, glomeruli with crescents contained a mixture of crescentic cells expressing either claudin 1 or nephrin. Rare crescentic cells coexpressed nephrin and claudin 1. PMID: 24529330 Mutations in NPHS1 gene occur in Iranian children with steroid sensitive nephrotic syndrome and steroid resistant nephrotic syndrome. PMID: 24498843 summarize the current knowledge of the functions of nephrin and Neph-family proteins and transcription factors and agents that control nephrin and Neph3 gene expression. PMID: 24219158 The planar cell polarity pathway contributes to podocyte development by regulating nephrin turnover during junctional remodeling as the cells differentiate. PMID: 23824190 Nck may facilitate dynamic signaling events at the slit diaphragm by promoting Fyn-dependent phosphorylation of nephrin. PMID: 23188823 we discovered 10 different mutations, 3 of them novel, consisting of 1 splice site mutation (IVS 7 + 1 G 1 T) and 2 missense mutations (p.Y977C and p.L215R). PMID: 22584503 In the glomeruli of CNS patients carrying mutations in NPHS1, where SD formation is disrupted, the expression of SIRPalpha as well as Neph1 and nephrin was significantly decreased, indicating that SIRPalpha is closely associated with the nephrin complex PMID: 22747997 Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells. PMID: 22718751 A total of 7 homozygous (6 novel) mutations were found in the NPHS1 gene and 4 homozygous mutations in the NPHS2 gene. PMID: 22565185 Finding lesuggest that NPHS1 mutations are also present in sporadic Chinese CNS cases. PMID: 22653594 finding that nephrinuria is observed in a majority of these normoalbuminuric patients demonstrates that it may precede microalbuminuria PMID: 22615747 Nephrin ligation resulted in abnormal morphology of actin tails in human podocytes when Ship2, Filamin or Lamellipodin were individually knocked down. PMID: 22194892 The expression of nephrin in different clinical types of hepatitis B virus-associated membranous nephropathy was significantly different. Expression in patients with nephrotic syndrome was significantly lower than in patients without nephrotic syndrome. PMID: 22176966 Two novel mutations of c.2783C>A and c.2225T>C in NPHS1 were found to be causative in this Chinese CNF family with no known Finnish ancestry PMID: 22009864 1,25(OH)(2)D(3) stimulates nephrin expression in podocytes by acting on a VDRE in the proximal nephrin promoter. PMID: 21803771 Data show that the main slit diaphragm proteins, nephrin and podocin, are affected from the earlier stages of lupus nephritis and their expression correlates with disease histology. PMID: 21478284 Podocyte-specific protein nephrin gene expression is decreased in women with preeclampsia. PMID: 19528353 PKC alpha mediates beta-arrestin2-dependent nephrin endocytosis in hyperglycemia. PMID: 21321125 PKCalpha is involved in reduction of nephrin surface expression; activation of PKCalpha is a pathomechanistic key event during the development of diabetic nephropathy PMID: 20419132 Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children were detected in NPHS1. PMID: 21125408 NPHS1 mutations are associated with congenital nephrotic syndrome. PMID: 20172850 podocyte protein kidney anion exchanger 1 interacts with nephrin and kinase to maintain the structure and function of the glomerular basement membrane. PMID: 20576809 Coexpression of CIN85/Ruk(L) with CD2AP led to a decreased binding of CIN85/Ruk(L) to nephrin and podocin, which indicates a functional competition between CD2AP and CIN85/Ruk(L). PMID: 20457601 The presence of the different genotypes of NPHS1 (AA genotype of rs401824 and GG genotype of rs437168) was associated with susceptibility to membranous glomerulonephritis and with remission of proteinuria during disease progression after therapy. PMID: 20138859 NPHS1 mutations associated with an earlier onset of congenital nephrotic syndrome and worse renal outcomes than NPHS2 mutations. PMID: 20507940 By means of gel supershift and chromatin immunoprecipitation assays we have shown that the protein factor from podocyte nuclear extracts able to recognize and bind the target sequence is the Sp1 zinc-finger protein. PMID: 19816048 Nephrin is an active component of insulin vesicle machinery that may affect its vesicle-actin interaction and mobilization to the plasma membrane. PMID: 19833886 evaluated the pathogenicity of amino-acid substitutions using the biophysical and biochemical difference between wild-type and mutant amino acid, the evolutionary conservation of the amino-acid residue in orthologs, and defined domains PMID: 19812541 The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site. PMID: 19746264

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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Recombinant Human Nephrin Protein

Recombinant Human Nephrin Protein

Product Overview

Target Details

FAQs