NCBI and Uniprot Product Information
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
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.
Subunit structure: 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
By similarity. Interacts with NPHS2. Ref.7
Subcellular location: Cell membrane; Single-pass type I membrane protein
Potential. Note: Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane. Ref.5 Ref.6
Tissue specificity: Specifically expressed in podocytes of kidney glomeruli.
Developmental stage: In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.
Post-translational modification: Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1
By similarity. Ref.8
Involvement in disease: Defects in NPHS1 are the cause of nephrotic syndrome type 1 (NPHS1) [
MIM:256300]; also known as Finnish congenital nephrosis (CNF). A renal disease characterized clinically by proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Ref.1 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17
Sequence similarities: Belongs to the immunoglobulin superfamily.Contains 1 fibronectin type-III domain.Contains 8 Ig-like C2-type (immunoglobulin-like) domains.
Research Articles on NPHS1
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Product Notes
The Rabbit NPHS1 nphs1 (Catalog #AAA726374) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA726374 ELISA Kit recognizes Rabbit NPHS1. It is sometimes possible for the material contained within the vial of "Nephrin, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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