Nephrin

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.^[5] They are present on the tips of the podocytes as an intricate mesh and convey strong negative charges which repel protein from crossing into the Bowman's space.

NPHS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ZRT
Identifiers
Aliases	NPHS1, CNF, NPHN, nephrin, NPHS1 nephrin, nephrin, NPHS1 adhesion molecule, nephrin
External IDs	OMIM: 602716; MGI: 1859637; HomoloGene: 20974; GeneCards: NPHS1; OMA:NPHS1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.12 Start 35,825,372 bp[1] End 35,869,287 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B1 Start 30,157,740 bp[2] End 30,186,648 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell body of pancreas vena cava tendon of biceps brachii Skeletal muscle tissue of rectus abdominis glomerulus metanephric glomerulus human kidney mucosa of pharynx nipple Top expressed in glomerulus embryo embryo morula neural layer of retina gastrula blastocyst dentate gyrus of hippocampal formation granule cell right kidney pancreas More reference expression data BioGPS n/a
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 anatomical structure slit diaphragm extracellular exosome focal adhesion 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: 30.16 – 30.19 Mb PubMed search [3] [4]
Wikidata
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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.^[6]