NPHS1

Nephrin is a kidney glomerular filtration barrier protein that is an essential component of the interpodocyte-spanning slit diaphragm. Mutations in the nephrin gene are associated with congenital nephrotic syndrome (NPHS1; MIM 256300).[supplied by OMIM

nephrosis 1, congenital, Finnish type (nephrin)

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).

Cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glomerular basement membrane developmentManual Assertion Based On ExperimentIEP:UniProtKB
Glomerular visceral epithelial cell developmentManual Assertion Based On ExperimentIEP:UniProtKB
JNK cascadeIEA:Ensembl
Myoblast fusionIEA:Ensembl
Positive regulation of actin filament polymerizationIEA:Ensembl
Protein localization to synapseManual Assertion Based On ExperimentIGI:UniProtKB
Skeletal muscle tissue developmentIEA:Ensembl
Slit diaphragm assemblyISS:UniProtKB

Cell membrane
Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.

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.

Extracellular: 23-1055
Helical: 1056-1076
Cytoplasmic: 1077-1241

Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.