Rabbit anti-Human Nephrin Polyclonal Antibody | anti-NPHS1 antibody

Nephrin Antibody

Cat. Num. AAA150504

• Gene Names: NPHS1; CNF; NPHN; nephrin
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry
• Purity: Nephrin Antibody is affinity chromatography purified via peptide column.
• Synonyms: Nephrin; Polyclonal Antibody; Nephrin Antibody; CNF; NPHN; nephrin; Renal glomerulus-specific cell adhesion receptor; nephrosis 1; congenital; Finnish type (nephrin); anti-NPHS1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Nephrin Antibody is affinity chromatography purified via peptide column.
• Form/Format: Liquid
• Concentration: 1 mg/mL (varies by lot)
• Sequence Length: 1241

• Applicable Applications for anti-NPHS1 antibody: ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: Nephrin antibody can be used for detection of Nephrin by immunohistochemistry at 5 mug/mL.
• Conjugate: Unconjugated
• Immunogen: Nephrin antibody was raised against a 16 amino acid synthetic peptide from near the center of human Nephrin.
• Buffer: Nephrin Antibody is supplied in PBS containing 0.02% sodium azide.
• Preparation and Storage: Nephrin antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

Immunohistochemistry (IHC)

(Immunohistochemistry of Nephrin in human kidney tissue with Nephrin antibody at 5 μg/mL.)

Related Product Information for anti-NPHS1 antibody

Nephrin Antibody: Nephrin is strongly expressed in renal glomeruli and is a member of the immunoglobulin family of cell adhesion molecules. Mutations in the Nephrin gene result in congenital nephrotic syndrome, an autosomal-recessive disorder characterized by massive proteinuria in utero and nephrosis at birth. Renal glomeruli allow normal kidneys to filter plasma so that it is very pure. Nephrin is expressed in the podocyte slit-diaphragm of the renal glomeruli in a manner that suggests that Nephrin molecules homodimerize in an anti-parallel fashion similar to cadherin interactions in adherens junctions. Thus, Nephrin may constitute the entire extracellular structure of the slit-diaphragm.

NCBI and Uniprot Product Information

• NCBI GI #: 4758822
• NCBI GeneID: 4868
• NCBI Accession #: NP_004637
• NCBI GenBank Nucleotide #: NM_004646.3
• UniProt Accession #: O60500; A6NDH2; C3RX61
• Molecular Weight: 130,546 Da
• NCBI Official Full Name: nephrin
• NCBI Official Synonym Full Names: nephrosis 1, congenital, Finnish type (nephrin)
• NCBI Official Symbol: NPHS1
• NCBI Official Synonym Symbols: CNF; NPHN; nephrin
• NCBI Protein Information: nephrin; renal glomerulus-specific cell adhesion receptor
• UniProt Protein Name: Nephrin
• Protein Family: Nephrin
• UniProt Gene Name: NPHS1
• UniProt Synonym Gene Names: NPHN
• UniProt Entry Name: NPHN_HUMAN

NCBI 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.[provided by RefSeq, Oct 2009]

Uniprot Description

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: Membrane protein, integral; Cell adhesion; Immunoglobulin superfamily

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: protein complex; cell projection; integral to plasma membrane; plasma membrane; lipid raft

Molecular Function: protein domain specific binding; protein binding; myosin binding; spectrin binding; alpha-actinin binding

Biological Process: skeletal muscle development; positive regulation of actin filament polymerization; glomerular basement membrane development; JNK cascade; excretion; cell adhesion; myoblast fusion

Disease: Nephrotic Syndrome, Type 1