Nephrin

From Wikipedia, the free encyclopedia
Nephrosis 1, congenital, Finnish type (nephrin)
Identifiers
SymbolsNPHS1; CNF; NPHN; nephrin
External IDsOMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1 Gene
Orthologs
SpeciesHumanMouse
Entrez486854631
EnsemblENSG00000161270ENSMUSG00000006649
UniProtO60500Q9QZS7
RefSeq (mRNA)NM_004646NM_019459
RefSeq (protein)NP_004637NP_062332
Location (UCSC)Chr 19:
36.32 – 36.34 Mb
Chr 7:
30.46 – 30.49 Mb
PubMed search

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]

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 FYN,[3][4] NPHS2,[5] CD2AP,[6] KIRREL,[7][8] CTNND1,[6] CDH3[6] and CASK.[6]

See also

References

  1. "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". 
  2. Wagner, N; Morrison, H, Pagnotta, S, Michiels, JF, Schwab, Y, Tryggvason, K, Schedl, A, Wagner, KD (2011-03-29). "The podocyte protein nephrin is required for cardiac vessel formation.". Human Molecular Genetics 20 (11): 2182–94. doi:10.1093/hmg/ddr106. PMID 21402589. 
  3. Lahdenperä, Juhani; Kilpeläinen Pekka, Liu Xiao Li, Pikkarainen Timo, Reponen Paula, Ruotsalainen Vesa, Tryggvason Karl (Aug 2003). "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases". Kidney Int. (United States) 64 (2): 404–13. doi:10.1046/j.1523-1755.2003.00097.x. ISSN 0085-2538. PMID 12846735. 
  4. Verma, Rakesh; Wharram Bryan, Kovari Iulia, Kunkel Robin, Nihalani Deepak, Wary Kishore K, Wiggins Roger C, Killen Paul, Holzman Lawrence B (Jun 2003). "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin". J. Biol. Chem. (United States) 278 (23): 20716–23. doi:10.1074/jbc.M301689200. ISSN 0021-9258. PMID 12668668. 
  5. Schwarz, K; Simons M, Reiser J, Saleem M A, Faul C, Kriz W, Shaw A S, Holzman L B, Mundel P (Dec 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. (United States) 108 (11): 1621–9. doi:10.1172/JCI12849. ISSN 0021-9738. PMC 200981. PMID 11733557. 
  6. 6.0 6.1 6.2 6.3 Lehtonen, Sanna; Lehtonen Eero, Kudlicka Krystyna, Holthöfer Harry, Farquhar Marilyn G (Sep 2004). "Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin". Am. J. Pathol. (United States) 165 (3): 923–36. doi:10.1016/S0002-9440(10)63354-8. ISSN 0002-9440. PMC 1618613. PMID 15331416. 
  7. Liu, Gang; Kaw Beenu, Kurfis Jayson, Rahmanuddin Syed, Kanwar Yashpal S, Chugh Sumant S (Jul 2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. (United States) 112 (2): 209–21. doi:10.1172/JCI18242. ISSN 0021-9738. PMC 164293. PMID 12865409. 
  8. Gerke, Peter; Huber Tobias B, Sellin Lorenz, Benzing Thomas, Walz Gerd (Apr 2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. (United States) 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. ISSN 1046-6673. PMID 12660326. 

Further reading

External links


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