Nephrin

Nephrosis 1, congenital, Finnish type (nephrin)
Identifiers
Symbols	NPHS1; CNF; NPHN; nephrin
External IDs	OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1 Gene
Gene Ontology Molecular function • protein binding • protein domain specific binding • spectrin binding • alpha-actinin binding Cellular component • membrane fraction • plasma membrane • integral to plasma membrane • membrane • protein complex • membrane raft Biological process • cell adhesion • multicellular organismal development • muscle organ development • excretion Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4868	54631
Ensembl	ENSG00000161270	ENSMUSG00000006649
UniProt	O60500	Q925S5
RefSeq (mRNA)	NM_004646.3	NM_019459.2
RefSeq (protein)	NP_004637.1	NP_062332.2
Location (UCSC)	Chr 19: 36.32 – 36.34 Mb	Chr 7: 31.24 – 31.27 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 that is a structural component of 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. 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

• Podocyte

References

1. ^ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4868. 
2. ^ Wagner, N; Morrison, H, Pagnotta, S, Michiels, JF, Schwab, Y, Tryggvason, K, Schedl, A, Wagner, KD (2011 Mar 29). "The podocyte protein nephrin is required for cardiac vessel formation.". Human molecular genetics. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=200981. 
6. ^ ^{a b c d} 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1618613. 
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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=164293. 
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

• 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. doi:10.1016/S1097-2765(00)80057-X. 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. doi:10.1086/302182. PMC 1377702. PMID 9915943. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377702. 
• 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. doi:10.1073/pnas.96.14.7962. PMC 22170. PMID 10393930. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22170. 
• 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. doi:10.1016/S0002-9440(10)65483-1. PMC 1866978. PMID 10550324. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1866978. 
• 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. doi:10.1086/302687. PMC 1288392. PMID 10577936. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288392. 
• 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. doi:10.1007/s001250100641. 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. doi:10.1172/JCI12849. PMC 200981. PMID 11733557. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=200981. 
• 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. doi:10.1093/hmg/11.4.379. 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. doi:10.1097/01.ASN.0000013297.11876.5B. 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. doi:10.1016/S0002-9440(10)64421-5. PMC 1867300. PMID 12368218. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1867300. 
• 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. 

External links

• MeSH nephrin

This protein-related article is a stub. You can help Wikipedia by expanding it.v · Categories: Human proteins Protein stubs Proteins Wikimedia Foundation. 2010. Игры ⚽ Нужно сделать НИР? Alker Tripp Napkor Look at other dictionaries: Nephrin — Masse/Länge Primärstruktur 1219 Aminosäuren …   Deutsch Wikipedia nephrin — noun Any of a class of transmembrane proteins necessary for the proper functioning of the renal filtration barrier …   Wiktionary nephrin — neph·rin (nefґrin) a transmembrane protein found in strands in the slit diaphragm of the renal glomerulus, chemically related to the immunoglobulin family of cell adhesion molecules …   Medical dictionary FSGS — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Focal segmentale Glomerulosklerose — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Fokal-Segmentale Glomerulonephritis — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Fokal-segmentale Glomerulosklerose — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Fokal-sklerosierende Glomerulonephritis — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Fokal Segmentale Glomerulosklerose — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia Fokal segmental sklerosierende Glomerulonephritis — Klassifikation nach ICD 10 N04.1 Nephrotisches Syndrom, Fokale und segmentale glomeruläre Läsionen Fokale und segmentale Sklerose N06.1 Isolierte Proteinurie mit Angabe morphologischer Veränderungen …   Deutsch Wikipedia 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”