Nephrin phospho Y1176 + Y1193
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.
Post-translational modifications
Phosphorylated at Tyr-1208 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 (By similarity). Tyrosine phosphorylation is reduced by high glucose levels (By similarity). Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1 to PIK3R1 (By similarity).
Sequence Similarities
Belongs to the immunoglobulin superfamily.
Tissue Specificity
Expressed in kidney glomeruli. In the embryo, expressed in the mesonephric kidney at 11 dpc with strong expression in cranial tubules with podocyte-like structures. Expression is observed in the podocytes of the developing kidney from 13 dpc. High expression is also detected in the developing cerebellum, hindbrain, spinal cord, retina and hypothalamus. Expressed in skeletal muscle during myoblast fusion such as in the adult following acute injury and in the embryo but not detected in uninjured adult skeletal muscle. Isoform 1 and isoform 2 are expressed in the newborn brain and developing cerebellum. Isoform 1 is the predominant isoform in adult kidney.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Located at podocyte slit diaphragm between podocyte foot processes.
Alternative names
Nphn, Nephrin, Renal glomerulus-specific cell adhesion receptor