Nephrin (NPHN)

NPHS1; CNF; Nephrosis 1; Congenital Finnish Type; Renal glomerulus-specific cell adhesion receptor

SPN	V874
HGNC	7908
MGI	1859637
PubMed	12663475
RGD	620460
UniProt	O60500
Wiki	Nephrin

Nephrin is 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.

Reference

"Positionally cloned gene for a novel glomerular protein -- nephrin --is mutated in congenital nephrotic syndrome."
Mol. Cell 1:575-582(1998) [PubMed] [Europe PMC] [Abstract]

"Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type."
Hum. Genet. 125:334-334(2009) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney."
Am. J. Pathol. 155:1681-1687(1999) [PubMed] [Europe PMC] [Abstract]

"Nephrin is specifically located at the slit diaphragm of glomerular podocytes."
Proc. Natl. Acad. Sci. U.S.A. 96:7962-7967(1999) [PubMed] [Europe PMC] [Abstract]

"Interaction with podocin facilitates nephrin signaling."
J. Biol. Chem. 276:41543-41546(2001) [PubMed] [Europe PMC] [Abstract]

"Phosphoproteome of resting human platelets."
J. Proteome Res. 7:526-534(2008) [PubMed] [Europe PMC] [Abstract]

"Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations."
Am. J. Hum. Genet. 64:51-61(1999) [PubMed] [Europe PMC] [Abstract]

"Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type."
Kidney Int. 57:401-404(2000) [PubMed] [Europe PMC] [Abstract]

"Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome."
Hum. Mol. Genet. 10:2637-2644(2001) [PubMed] [Europe PMC] [Abstract]

"Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome."
Hum. Mutat. 17:368-373(2001) [PubMed] [Europe PMC] [Abstract]

"A familial childhood-onset relapsing nephrotic syndrome."
Kidney Int. 71:946-951(2007) [PubMed] [Europe PMC] [Abstract]

"Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome."
J. Am. Soc. Nephrol. 19:1871-1878(2008) [PubMed] [Europe PMC] [Abstract]

"Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome."
Nephrol. Dial. Transplant. 23:3527-3533(2008) [PubMed] [Europe PMC] [Abstract]

"Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)."
Nephrol. Dial. Transplant. 25:2970-2976(2010) [PubMed] [Europe PMC] [Abstract]

"Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome."
Genet. Mol. Res. 10:2517-2522(2011) [PubMed] [Europe PMC] [Abstract]

"A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan."
Gene 502:133-137(2012) [PubMed] [Europe PMC] [Abstract]