Nephrin

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NPHS1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases NPHS1, CNF, NPHN, nephrin, NPHS1 nephrin, nephrin
External IDs OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004646

NM_019459

RefSeq (protein)

NP_004637

NP_062332.2
NP_062332

Location (UCSC) Chr 19: 35.83 – 35.87 Mb Chr 7: 30.46 – 30.49 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3] They are present on the tips of the podocytes and maintain the normal relationship between the basement membrane and the podocytes of the epithelial cells.

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.[4]

Interactions[edit]

Nephrin has been shown to interact with:

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". 
  4. ^ 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. 
  5. ^ a b c d Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG (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. 165 (3): 923–36. doi:10.1016/S0002-9440(10)63354-8. PMC 1618613Freely accessible. PMID 15331416. 
  6. ^ Lahdenperä J, Kilpeläinen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K (Aug 2003). "Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases". Kidney Int. 64 (2): 404–13. doi:10.1046/j.1523-1755.2003.00097.x. PMID 12846735. 
  7. ^ Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB (Jun 2003). "Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin". J. Biol. Chem. 278 (23): 20716–23. doi:10.1074/jbc.M301689200. PMID 12668668. 
  8. ^ Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS (Jul 2003). "Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability". J. Clin. Invest. 112 (2): 209–21. doi:10.1172/JCI18242. PMC 164293Freely accessible. PMID 12865409. 
  9. ^ Gerke P, Huber TB, Sellin L, Benzing T, Walz G (Apr 2003). "Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1". J. Am. Soc. Nephrol. 14 (4): 918–26. doi:10.1097/01.ASN.0000057853.05686.89. PMID 12660326. 
  10. ^ Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (Dec 2001). "Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin". J. Clin. Invest. 108 (11): 1621–9. doi:10.1172/JCI12849. PMC 200981Freely accessible. PMID 11733557. 

Further reading[edit]

External links[edit]