NPHS1
Developmental stage
In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.
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).
Involvement in disease
Nephrotic syndrome 1
NPHS1
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 (By similarity). Tyrosine phosphorylation is reduced by high glucose levels (PubMed:28955049). Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1 to PIK3R1 (PubMed:28955049).
Sequence Similarities
Belongs to the immunoglobulin superfamily.
Tissue Specificity
Specifically expressed in podocytes of kidney glomeruli.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Alternative names
NPHN, NPHS1, Nephrin, Renal glomerulus-specific cell adhesion receptor