| NPHS1 |
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| Available structures |
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| PDB |
Ortholog search: PDBe RCSB
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| List of PDB id codes |
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4ZRT |
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| Identifiers |
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| Aliases |
NPHS1, CNF, NPHN, nephrin, NPHS1 nephrin, nephrin, NPHS1 adhesion molecule, nephrin |
| External IDs |
OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1 |
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| Gene location (Mouse) |
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| Chr. |
Chromosome 7 (mouse) |
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| Band |
7|7 B1 |
Start |
30,157,740 bp |
| End |
30,186,648 bp |
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| Wikidata |
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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. 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.
Interactions
Nephrin has been shown to interact with:
See also
Further reading
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Tryggvason K (2002). "Nephrin: role in normal kidney and in disease". Adv. Nephrol. Necker Hosp. 31: 221–34. PMID 11692461.
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Kestilä M, Lenkkeri U, Männikkö M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998). "Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome". Mol. Cell. 1 (4): 575–82. doi:10.1016/S1097-2765(00)80057-X. PMID 9660941.
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Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac CK, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K (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. doi:10.1086/302182. PMC 1377702. PMID 9915943.
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Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestilä M, Jalanko H, Holmberg C, Tryggvason K (1999). "Nephrin is specifically located at the slit diaphragm of glomerular podocytes". Proc. Natl. Acad. Sci. U.S.A. 96 (14): 7962–7. Bibcode:1999PNAS...96.7962R. doi:10.1073/pnas.96.14.7962. PMC 22170. PMID 10393930.
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Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (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. doi:10.1086/302687. PMC 1288392. PMID 10577936.
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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.
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Li C, Ruotsalainen V, Tryggvason K, Shaw AS, Miner JH (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. doi:10.1152/ajprenal.2000.279.4.F785. PMID 10997929. S2CID 37166239.
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Huber TB, Kottgen M, Schilling B, Walz G, Benzing T (2001). "Interaction with podocin facilitates nephrin signaling". J. Biol. Chem. 276 (45): 41543–6. doi:10.1074/jbc.C100452200. PMID 11562357.
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Palmén T, Ahola H, Palgi J, Aaltonen P, Luimula P, Wang S, Jaakkola I, Knip M, Otonkoski T, Holthöfer H (2002). "Nephrin is expressed in the pancreatic beta cells". Diabetologia. 44 (10): 1274–80. doi:10.1007/s001250100641. PMID 11692176.
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Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P (2002). "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 200981. PMID 11733557.
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Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P (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. doi:10.1093/hmg/11.4.379. PMID 11854170.
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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. doi:10.1097/01.ASN.0000013297.11876.5B. PMID 11961028.
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Shimizu J, Tanaka H, Aya K, Ito S, Sado Y, Seino Y (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.
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Saleem MA, Ni L, Witherden I, Tryggvason K, Ruotsalainen V, Mundel P, Mathieson PW (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. doi:10.1016/S0002-9440(10)64421-5. PMC 1867300. PMID 12368218.
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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.
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Langham RG, Kelly DJ, Cox AJ, Thomson NM, Holthöfer H, Zaoui P, Pinel N, Cordonnier DJ, Gilbert RE (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.
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Gigante M, Monno F, Roberto R, Laforgia N, Assael MB, Livolti S, Caringella A, La Manna A, Masella L, Iolascon A (2003). "Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach". J. Nephrol. 15 (6): 696–702. PMID 12495287.
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Kapodistria K, Tsilibary EP, Politis P, Moustardas P, Charonis A, Kitsiou P (2015). "Nephrin, a transmembrane protein, is involved in pancreatic beta-cell survival signaling". Mol. Cell. Endocrinol. 400: 112–28. doi:10.1016/j.mce.2014.11.003. PMID 25448064.
External links
