Nephrin

From Wikipedia, the free encyclopedia

Nephrosis 1, congenital, Finnish type (nephrin)

Identifiers

NPHS1; CNF; NPHN

External IDs

OMIM: 602716 MGI: 1859637 HomoloGene: 20974

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• integral to plasma membrane • membrane
Biological Process:	• cell adhesion • excretion

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_004646 (mRNA)
NP_004637 (protein)

NM_019459 (mRNA)
NP_062332 (protein)

Location

n/a

Chr 7: 30.17 - 30.2 Mb

Pubmed search

[1]

[2]

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 involved with the slit diaphragm.^[1]

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

1 See also
2 References
3 Further reading
4 External links

[edit] See also

Podocyte

[edit] References

^ Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin).

[edit] Further reading

Tryggvason K (2002). "Nephrin: role in normal kidney and in disease.". Adv. Nephrol. Necker Hosp. 31: 221–34. PMID 11692461.
Kestilä M, Lenkkeri U, Männikkö M, et al. (1998). "Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.". Mol. Cell 1 (4): 575–82. PMID 9660941.
Lenkkeri U, Männikkö M, McCready P, et al. (1999). "Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.". Am. J. Hum. Genet. 64 (1): 51–61. PMID 9915943.
Ruotsalainen V, Ljungberg P, Wartiovaara J, et al. (1999). "Nephrin is specifically located at the slit diaphragm of glomerular podocytes.". Proc. Natl. Acad. Sci. U.S.A. 96 (14): 7962–7. PMID 10393930.
Holthöfer H, Ahola H, Solin ML, et al. (1999). "Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.". Am. J. Pathol. 155 (5): 1681–7. PMID 10550324.
Bolk S, Puffenberger EG, Hudson J, et al. (2000). "Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.". Am. J. Hum. Genet. 65 (6): 1785–90. PMID 10577936.
Aya K, Tanaka H, Seino Y (2000). "Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.". Kidney Int. 57 (2): 401–4. doi:10.1046/j.1523-1755.2000.00859.x. PMID 10652016.
Li C, Ruotsalainen V, Tryggvason K, et al. (2000). "CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere.". Am. J. Physiol. Renal Physiol. 279 (4): F785–92. PMID 10997929.
Huber TB, Kottgen M, Schilling B, et al. (2001). "Interaction with podocin facilitates nephrin signaling.". J. Biol. Chem. 276 (45): 41543–6. doi:10.1074/jbc.C100452200. PMID 11562357.
Palmén T, Ahola H, Palgi J, et al. (2002). "Nephrin is expressed in the pancreatic beta cells.". Diabetologia 44 (10): 1274–80. PMID 11692176.
Schwarz K, Simons M, Reiser J, et al. (2002). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.". J. Clin. Invest. 108 (11): 1621–9. PMID 11733557.
Koziell A, Grech V, Hussain S, et al. (2002). "Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.". Hum. Mol. Genet. 11 (4): 379–88. PMID 11854170.
Yan K, Khoshnoodi J, Ruotsalainen V, Tryggvason K (2002). "N-linked glycosylation is critical for the plasma membrane localization of nephrin.". J. Am. Soc. Nephrol. 13 (5): 1385–9. PMID 11961028.
Shimizu J, Tanaka H, Aya K, et al. (2002). "A missense mutation in the nephrin gene impairs membrane targeting.". Am. J. Kidney Dis. 40 (4): 697–703. doi:10.1053/ajkd.2002.35676. PMID 12324903.
Saleem MA, Ni L, Witherden I, et al. (2002). "Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation.". Am. J. Pathol. 161 (4): 1459–66. PMID 12368218.
Kim BK, Hong HK, Kim JH, Lee HS (2002). "Differential expression of nephrin in acquired human proteinuric diseases.". Am. J. Kidney Dis. 40 (5): 964–73. doi:10.1053/ajkd.2002.36328. PMID 12407641.
Langham RG, Kelly DJ, Cox AJ, et al. (2003). "Proteinuria and the expression of the podocyte slit diaphragm protein, nephrin, in diabetic nephropathy: effects of angiotensin converting enzyme inhibition.". Diabetologia 45 (11): 1572–6. doi:10.1007/s00125-002-0946-y. PMID 12436341.
Gigante M, Monno F, Roberto R, et al. (2003). "Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.". J. Nephrol. 15 (6): 696–702. PMID 12495287.
Pettersson-Fernholm K, Forsblom C, Perola M, et al. (2003). "Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.". Kidney Int. 63 (4): 1205–10. doi:10.1046/j.1523-1755.2003.00855.x. PMID 12631336.