Clinfowiki

NPHS1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	4ZRT
Identifikatori
Aliasi	NPHS1
Vanjski ID-jevi	OMIM: 602716 MGI: 1859637 HomoloGene: 20974 GeneCards: NPHS1
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	35,869,287 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	30,186,648 bp
Ontologija gena
Molekularna funkcija	• myosin binding; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• integral component of membrane; • projekcija ćelije; • membrana; • ćelijska membrana; • integral component of plasma membrane; • intracellular anatomical structure; • slit diaphragm; • Egzosom; • focal adhesion;
Biološki proces	• izlučivanje; • glomerular visceral epithelial cell development; • positive regulation of actin filament polymerization; • glomerular basement membrane development; • muscle organ development; • GO:0044061 regulation of excretion; • MAPK cascade; • multicellular organism development; • JNK cascade; • Ćelijska adhezija; • myoblast fusion; • skeletal muscle tissue development; • protein localization to synapse; • axon guidance; • T cell costimulation;
	Izvori:Amigo / QuickGO
Ortolozi
	4868
	54631
	ENSG00000161270
	ENSMUSG00000006649
	O60500
	Q9QZS7
	NM_004646
	NM_019459
	NP_004637
	NP_062332
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Nefrin je neophodni protein za pravilno funkcioniranje bubrežne filtracijske barijere. Barijera bubrežne filtracije sastoji se od fenestriranih endotelnih ćelija, glomerulake bazne membrane i podocitnih epitelnih ćelija. Nefrin je transmembranski protein koji je strukturna komponenta prorezne dijafragme.^[5] Nalaze se na vrhovima podocita kao zamršena mreža i prenose jake negativne naboje koji odbijaju proteine koji prelaze u Bowmanov prostor.

Kvar u genu za nefrin, NPHS1, povezan je sa urođenim nefrotskim sindromom finskog tipa i uzrokuje curenje ogromnih količina proteina u urin zvano proteinurija. Nefrin je također potreban za razvoj kardiovaskularnog sistema.^[6]

Interakcije

Pokazano je da nefrin interagira sa proizvodima lokusa:

Također pogledajte

Podocit

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000161270 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000006649 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)".
^ Wagner N, Morrison H, Pagnotta S, Michiels JF, Schwab Y, Tryggvason K, Schedl A, Wagner KD (29. 3. 2011). "The podocyte protein nephrin is required for cardiac vessel formation". Human Molecular Genetics. 20 (11): 2182–94. doi:10.1093/hmg/ddr106. PMID 21402589.
^ ^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 1618613. PMID 15331416.
^ 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.
^ 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.
^ 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 164293. PMID 12865409.
^ 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.
^ 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 200981. PMID 11733557.

Dopunska literatura

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, 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.
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.
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.
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.
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, 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.
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.
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.
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.
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.
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, 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.
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.
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, 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.
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.
Pettersson-Fernholm K, Forsblom C, Perola M, Groop PH (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.
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.

Vanjski linkovi

nephrin na US National Library of Medicine Medical Subject Headings (MeSH)

Commons logo

Commons ima datoteke na temu: Nefrin

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000161270 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000006649 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin)".

[pmid21402589-6] Wagner N, Morrison H, Pagnotta S, Michiels JF, Schwab Y, Tryggvason K, Schedl A, Wagner KD (29. 3. 2011). "The podocyte protein nephrin is required for cardiac vessel formation". Human Molecular Genetics. 20 (11): 2182–94. doi:10.1093/hmg/ddr106. PMID 21402589.

[pmid15331416-7] 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 1618613. PMID 15331416.

[pmid12846735-8] 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.

[pmid12668668-9] 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.

[pmid12865409-10] 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 164293. PMID 12865409.

[pmid12660326-11] 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.

[pmid11733557-12] 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 200981. PMID 11733557.

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