NPHS1

NPHS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ZRT
Identifiers
Aliases	NPHS1, CNF, NPHN, nephrin, NPHS1 nephrin, nephrin
External IDs	OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1
Gene ontology Molecular function • myosin binding • protein binding Cellular component • integral component of membrane • cell projection • membrane • plasma membrane • integral component of plasma membrane • intracellular • slit diaphragm • extracellular exosome Biological process • excretion • glomerular visceral epithelial cell development • positive regulation of actin filament polymerization • glomerular basement membrane development • muscle organ development • regulation of excretion • MAPK cascade • multicellular organism development • JNK cascade • cell adhesion • myoblast fusion • skeletal muscle tissue development • protein localization to synapse • axon guidance • T cell costimulation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4868	54631
Ensembl	ENSG00000161270	ENSMUSG00000006649
UniProt	O60500	Q9QZS7
RefSeq (mRNA)	NM_004646	NM_019459
RefSeq (protein)	NP_004637	NP_062332
Location (UCSC)	Chr 19: 35.83 – 35.87 Mb	Chr 7: 30.46 – 30.49 Mb
PubMed search

4ZRT

4868

54631

ENSG00000161270

ENSMUSG00000006649

O60500

Q9QZS7

NM_004646

NM_019459

NP_004637

NP_062332

Nephrin is a protein necessary for the proper functioning of the renal filtration barrier. The renal filtration barrier consists of fenestrated endothelial cells, the glomerular basement membrane, and the podocytes of epithelial cells. Nephrin is a transmembrane protein that is a structural component of the slit diaphragm. They are present on the tips of the podocytes and maintain the normal relationship between the basement membrane and the podocytes of the epithelial cells.

A defect in the gene for nephrin, NPHS1, is associated with congenital nephrotic syndrome of the Finnish type and causes massive amounts of protein to be leaked into the urine, or proteinuria. Nephrin is also required for cardiovascular development.

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Wikipedia