NPHS1

Entrez Summary: 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 Summary: 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). {ECO:0000250|UniProtKB:Q9QZS7, ECO:0000250|UniProtKB:Q9R044}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 1/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	1/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

slit diaphragm
glomerular visceral epithelial cell development
glomerular basement membrane development
glomerular epithelial cell development
renal filtration cell differentiation
glomerular visceral epithelial cell differentiation
glomerular epithelial cell differentiation
glomerular epithelium development
myoblast fusion
myosin binding
regulation of excretion
epithelial cell differentiation involved in kidney development
cell-cell fusion
syncytium formation by plasma membrane fusion
syncytium formation
excretion
cell differentiation involved in kidney development
glomerulus development
myotube differentiation
protein localization to synapse
JNK cascade
positive regulation of actin filament polymerization
nephron epithelium development
cell projection
stress-activated MAPK cascade
skeletal muscle tissue development
nephron development
positive regulation of protein polymerization
kidney epithelium development
skeletal muscle organ development
stress-activated protein kinase signaling cascade
regulation of actin filament polymerization
regulation of actin polymerization or depolymerization
regulation of actin filament length
epithelial cell development
positive regulation of supramolecular fiber organization
striated muscle cell differentiation
positive regulation of cytoskeleton organization
regulation of protein polymerization
muscle cell differentiation