Biology:Nephrin
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Short description: Mammalian protein found in Homo sapiens
 Generic protein structure example |
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.[1] 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.
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.[2]
Interactions
Nephrin has been shown to interact with:
See also
References
- ↑ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4868.
- ↑ "The podocyte protein nephrin is required for cardiac vessel formation.". Human Molecular Genetics 20 (11): 2182–94. 2011-03-29. doi:10.1093/hmg/ddr106. PMID 21402589.
- ↑ 3.0 3.1 3.2 3.3 "Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin". Am. J. Pathol. 165 (3): 923–36. Sep 2004. doi:10.1016/S0002-9440(10)63354-8. PMID 15331416.
- ↑ "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases". Kidney Int. 64 (2): 404–13. Aug 2003. doi:10.1046/j.1523-1755.2003.00097.x. PMID 12846735.
- ↑ "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin". J. Biol. Chem. 278 (23): 20716–23. Jun 2003. doi:10.1074/jbc.M301689200. PMID 12668668.
- ↑ "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. 112 (2): 209–21. Jul 2003. doi:10.1172/JCI18242. PMID 12865409.
- ↑ "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. 14 (4): 918–26. Apr 2003. doi:10.1097/01.ASN.0000057853.05686.89. PMID 12660326.
- ↑ "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621–9. Dec 2001. doi:10.1172/JCI12849. PMID 11733557.
Further reading
- "Nephrin: role in normal kidney and in disease.". Adv. Nephrol. Necker Hosp. 31: 221–34. 2002. PMID 11692461.
- "Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.". Mol. Cell 1 (4): 575–82. 1998. doi:10.1016/S1097-2765(00)80057-X. PMID 9660941.
- "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. 1999. doi:10.1086/302182. PMID 9915943.
- "Nephrin is specifically located at the slit diaphragm of glomerular podocytes.". Proc. Natl. Acad. Sci. U.S.A. 96 (14): 7962–7. 1999. doi:10.1073/pnas.96.14.7962. PMID 10393930. Bibcode: 1999PNAS...96.7962R.
- "Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.". Am. J. Hum. Genet. 65 (6): 1785–90. 2000. doi:10.1086/302687. PMID 10577936.
- "Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.". Kidney Int. 57 (2): 401–4. 2000. doi:10.1046/j.1523-1755.2000.00859.x. PMID 10652016.
- "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. 2000. doi:10.1152/ajprenal.2000.279.4.F785. PMID 10997929.
- "Interaction with podocin facilitates nephrin signaling.". J. Biol. Chem. 276 (45): 41543–6. 2001. doi:10.1074/jbc.C100452200. PMID 11562357.
- "Nephrin is expressed in the pancreatic beta cells.". Diabetologia 44 (10): 1274–80. 2002. doi:10.1007/s001250100641. PMID 11692176.
- "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.". J. Clin. Invest. 108 (11): 1621–9. 2002. doi:10.1172/JCI12849. PMID 11733557.
- "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. 2002. doi:10.1093/hmg/11.4.379. PMID 11854170.
- "N-linked glycosylation is critical for the plasma membrane localization of nephrin.". J. Am. Soc. Nephrol. 13 (5): 1385–9. 2002. doi:10.1097/01.ASN.0000013297.11876.5B. PMID 11961028.
- "A missense mutation in the nephrin gene impairs membrane targeting.". Am. J. Kidney Dis. 40 (4): 697–703. 2002. doi:10.1053/ajkd.2002.35676. PMID 12324903.
- "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. 2002. doi:10.1016/S0002-9440(10)64421-5. PMID 12368218.
- "Differential expression of nephrin in acquired human proteinuric diseases.". Am. J. Kidney Dis. 40 (5): 964–73. 2002. doi:10.1053/ajkd.2002.36328. PMID 12407641.
- "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. 2003. doi:10.1007/s00125-002-0946-y. PMID 12436341.
- "Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.". J. Nephrol. 15 (6): 696–702. 2003. PMID 12495287.
- "Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.". Kidney Int. 63 (4): 1205–10. 2003. doi:10.1046/j.1523-1755.2003.00855.x. PMID 12631336.
- "Nephrin, a transmembrane protein, is involved in pancreatic beta-cell survival signaling.". Mol. Cell. Endocrinol. 400: 112–28. 2015. doi:10.1016/j.mce.2014.11.003. PMID 25448064.
External links
- nephrin at the US National Library of Medicine Medical Subject Headings (MeSH)
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