nephrin; renal glomerulus-specific cell adhesion receptor (NPHS1 NPHN)

Function

• seems to play a role in the development or function of the kidney glomerular filtration barrier
• may anchor the podocyte slit diaphragm to the actin cytoskeleton
• phosphorylated on Tyr
• interacts with podocin/NPHS2 & KIRREL
• interacts with CD2AP C-terminal domain (putative)
• interacts with MAGI1 PDZ domains 2 & 3 forming a tripartite complex with IGSF5/JAM4
• interacts with DDN; the interaction is direct

Structure

• belongs to the immunoglobulin superfamily
• contains 1 fibronectin F3 module
• contains 8 Ig-like C2-type domain (immunoglobulin-like)

Compartment

• cell membrane; single-pass type 1 membrane protein (putative)
• predominantly located at podocyte slit diaphragm between podocyte foot processes
• also associated with podocyte apical plasma membrane

Alternative splicing

• named isoforms=2

Expression

• specifically expressed in podocytes of kidney glomeruli
• in 23-week-old embryo found in epithelial podocytes of the periphery of mature & developing glomeruli

Pathology

• defects in NPHS1 are the cause of nephrotic syndrome type-1

More general terms

• adhesion receptor
• immunoglobulin superfamily protein
• phosphoprotein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4868
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4868
• OMIM: https://mirror.omim.org/entry/256300
• OMIM: https://mirror.omim.org/entry/602716
• UniProt: http://www.uniprot.org/uniprot/O60500.html