catalog number :
MBS9200219
products full name :
Nephrin Antibody (Ascites)
products short name :
[Nephrin]
products name syn :
[Nephrin; Renal glomerulus-specific cell adhesion receptor; NPHS1; NPHN]
other names :
[nephrin; Nephrin; nephrin; nephrosis 1, congenital, Finnish type (nephrin); Renal glomerulus-specific cell adhesion receptor]
products gene name :
[NPHS1]
other gene names :
[NPHS1; NPHS1; CNF; NPHN; nephrin; NPHN]
uniprot entry name :
NPHN_HUMAN
sequence positions :
[1088-1117]
specificity :
This Nephrin antibody is generated from mice immunized with a KLH conjugated synthetic peptide between 1088-1117 amino acids from human Nephrin.
form :
Mouse monoclonal antibody supplied in crude ascites with 0.09% (W/V) sodium azide.
storage stability :
Maintain refrigerated at 2-8 degree C for up to 2 weeks. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.
tested application :
Western Blot (WB), ELISA (EIA), Immunofluorescence (IF)
app notes :
WB~~1:100~200. IF~~1:10~50
image1 heading :
Western Blot (WB)
image2 heading :
Immunofluorescence (IF)
other info1 :
Antigen Type: Synthetic Peptide. 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 (By similarity). Cellular Location: Cell membrane; Single-pass type I membrane protein. Note=Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. Tissue Location: Specifically expressed in podocytes of kidney glomeruli
other info2 :
Antigen Source: HUMAN
products categories :
Signal Transduction
products description :
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.
products references :
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010) Wu, F., et al. J. Am. Soc. Nephrol. 21(9):1456-1467(2010) Tossidou, I., et al. J. Biol. Chem. 285(33):25285-25295(2010) Machuca, E., et al. J. Am. Soc. Nephrol. 21(7):1209-1217(2010) Aya, K., et al. Kidney Int. 57(2):401-404(2000)
ncbi acc num :
NP_004637.1
ncbi gb acc num :
NM_004646.3
ncbi pathways :
Valine, Leucine And Isoleucine Biosynthesis Pathway (4868); Valine, Leucine And Isoleucine Biosynthesis Pathway (4868); Valine, Leucine And Isoleucine Biosynthesis Pathway (4868)
ncbi summary :
This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009]
uniprot summary :
NPHS1: 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. Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1. Interacts with NPHS2. Specifically expressed in podocytes of kidney glomeruli. Belongs to the immunoglobulin superfamily. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Cell adhesion; Immunoglobulin superfamily; Membrane protein, integral. Chromosomal Location of Human Ortholog: 19q13.1. Cellular Component: cell projection; protein complex; integral to plasma membrane; plasma membrane; lipid raft. Molecular Function: protein domain specific binding; protein binding; spectrin binding; myosin binding; alpha-actinin binding. Biological Process: skeletal muscle development; positive regulation of actin filament polymerization; glomerular basement membrane development; JNK cascade; cell adhesion; excretion; myoblast fusion. Disease: Nephrotic Syndrome, Type 1