NPHS1 Antibody – Rabbit Polyclonal

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]

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: protein complex; cell projection; 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; excretion; cell adhesion; myoblast fusion

Disease: Nephrotic Syndrome, Type 1