腎病蛋白

腎病1、先天性、芬蘭型(腎病蛋白)
腎病1、先天性、芬蘭型(腎病蛋白)
标识
代号	NPHS1; CNF; NPHN; 腎病蛋白
扩展标识	遗传学：602716 鼠基因：1859637 同源基因：20974 GeneCards: NPHS1 Gene
基因本体论描述
分子功能	· protein binding; · myosin binding; · protein domain specific binding; · spectrin binding; · alpha-actinin binding;
细胞成分	· plasma membrane; · integral component of plasma membrane; · slit diaphragm; · cell projection; · protein complex; · membrane raft; · extracellular vesicular exosome;
生物过程	· cell adhesion; · JNK cascade; · skeletal muscle tissue development; · myoblast fusion; · excretion; · positive regulation of actin filament polymerization; · glomerular basement membrane development; · regulation of excretion; · glomerular visceral epithelial cell development;
	Sources: Amigo / QuickGO
直系同源体
物种	人类
Entrez	4868
Ensembl	ENSG00000161270
UniProt	O60500
mRNA序列	NM_004646
蛋白序列	NP_004637
基因位置	Chr 19:; 36.32 – 36.36 Mb
PubMed查询	[1]
	查; 论; 编;

腎病蛋白（Nephrin）對於"腎小球濾過屏障"(renal filtration barrier)的適當運作是必需要的蛋白质。"腎小球濾過屏障"由"窗孔內皮細胞"(fenestrated endothelial cell)、腎小球基底膜(GBM)，以及"上皮細胞"(epithelial cell)之足細胞所組成。腎病蛋白是一種跨膜蛋白，它是濾過裂隙的一個結構部件。^[1]

在腎病蛋白、NPHS1、基因中的缺陷，與"芬蘭型先天性腎病綜合癥"(congenital nephrotic syndrome)有所相關聯，並且導致蛋白質大量被洩漏到尿，或蛋白尿裡。而"心血管"(cardiovascular)的發展需要腎病蛋白。^[2]

交互作用

腎病蛋白已顯示出與下列蛋白之蛋白質交互作用：

參見

足蛋白

註釋

^ Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin). （原始内容存档于2019-09-12）.
^ Wagner, N; Morrison, H; Pagnotta, S; Michiels, JF; Schwab, Y; Tryggvason, K; Schedl, A; Wagner, KD. The podocyte protein nephrin is required for cardiac vessel formation.. Human Molecular Genetics. 2011-03-29, 20 (11): 2182–94. PMID 21402589. doi:10.1093/hmg/ddr106.
^ ^3.0 ^3.1 ^3.2 ^3.3 Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG. Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin. Am. J. Pathol. Sep 2004, 165 (3): 923–36. PMC 1618613 . PMID 15331416. doi:10.1016/S0002-9440(10)63354-8.
^ Lahdenperä J, Kilpeläinen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K. Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases. Kidney Int. Aug 2003, 64 (2): 404–13. PMID 12846735. doi:10.1046/j.1523-1755.2003.00097.x.
^ Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB. Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin. J. Biol. Chem. Jun 2003, 278 (23): 20716–23. PMID 12668668. doi:10.1074/jbc.M301689200.
^ Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J. Clin. Invest. Jul 2003, 112 (2): 209–21. PMC 164293 . PMID 12865409. doi:10.1172/JCI18242.
^ Gerke P, Huber TB, Sellin L, Benzing T, Walz G. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. J. Am. Soc. Nephrol. Apr 2003, 14 (4): 918–26. PMID 12660326. doi:10.1097/01.ASN.0000057853.05686.89.
^ Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. Dec 2001, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.

延伸閱讀

Tryggvason K. Nephrin: role in normal kidney and in disease.. Adv. Nephrol. Necker Hosp. 2002, 31: 221–34. PMID 11692461.
Kestilä M; Lenkkeri U; Männikkö M; et al. Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.. Mol. Cell. 1998, 1 (4): 575–82. PMID 9660941. doi:10.1016/S1097-2765(00)80057-X.
Lenkkeri U; Männikkö M; McCready P; et al. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.. Am. J. Hum. Genet. 1999, 64 (1): 51–61. PMC 1377702 . PMID 9915943. doi:10.1086/302182.
Ruotsalainen V; Ljungberg P; Wartiovaara J; et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes.. Proc. Natl. Acad. Sci. U.S.A. 1999, 96 (14): 7962–7. PMC 22170 . PMID 10393930. doi:10.1073/pnas.96.14.7962.
Holthöfer H; Ahola H; Solin ML; et al. Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.. Am. J. Pathol. 1999, 155 (5): 1681–7. PMC 1866978 . PMID 10550324. doi:10.1016/S0002-9440(10)65483-1.
Bolk S; Puffenberger EG; Hudson J; et al. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.. Am. J. Hum. Genet. 2000, 65 (6): 1785–90. PMC 1288392 . PMID 10577936. doi:10.1086/302687.
Aya K; Tanaka H; Seino Y. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.. Kidney Int. 2000, 57 (2): 401–4. PMID 10652016. doi:10.1046/j.1523-1755.2000.00859.x.
Li C; Ruotsalainen V; Tryggvason K; et al. CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere.. Am. J. Physiol. Renal Physiol. 2000, 279 (4): F785–92. PMID 10997929.
Huber TB; Kottgen M; Schilling B; et al. Interaction with podocin facilitates nephrin signaling.. J. Biol. Chem. 2001, 276 (45): 41543–6. PMID 11562357. doi:10.1074/jbc.C100452200.
Palmén T; Ahola H; Palgi J; et al. Nephrin is expressed in the pancreatic beta cells.. Diabetologia. 2002, 44 (10): 1274–80. PMID 11692176. doi:10.1007/s001250100641.
Schwarz K; Simons M; Reiser J; et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin.. J. Clin. Invest. 2002, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.
Koziell A; Grech V; Hussain S; et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.. Hum. Mol. Genet. 2002, 11 (4): 379–88. PMID 11854170. doi:10.1093/hmg/11.4.379.
Yan K; Khoshnoodi J; Ruotsalainen V; Tryggvason K. N-linked glycosylation is critical for the plasma membrane localization of nephrin.. J. Am. Soc. Nephrol. 2002, 13 (5): 1385–9. PMID 11961028. doi:10.1097/01.ASN.0000013297.11876.5B.
Shimizu J; Tanaka H; Aya K; et al. A missense mutation in the nephrin gene impairs membrane targeting.. Am. J. Kidney Dis. 2002, 40 (4): 697–703. PMID 12324903. doi:10.1053/ajkd.2002.35676.
Saleem MA; Ni L; Witherden I; et al. Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation.. Am. J. Pathol. 2002, 161 (4): 1459–66. PMC 1867300 . PMID 12368218. doi:10.1016/S0002-9440(10)64421-5.
Kim BK; Hong HK; Kim JH; Lee HS. Differential expression of nephrin in acquired human proteinuric diseases.. Am. J. Kidney Dis. 2002, 40 (5): 964–73. PMID 12407641. doi:10.1053/ajkd.2002.36328.
Langham RG; Kelly DJ; Cox AJ; et al. Proteinuria and the expression of the podocyte slit diaphragm protein, nephrin, in diabetic nephropathy: effects of angiotensin converting enzyme inhibition.. Diabetologia. 2003, 45 (11): 1572–6. PMID 12436341. doi:10.1007/s00125-002-0946-y.
Gigante M; Monno F; Roberto R; et al. Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.. J. Nephrol. 2003, 15 (6): 696–702. PMID 12495287.
Pettersson-Fernholm K; Forsblom C; Perola M; et al. Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.. Kidney Int. 2003, 63 (4): 1205–10. PMID 12631336. doi:10.1046/j.1523-1755.2003.00855.x.

外部連結

醫學主題詞表（MeSH）：nephrin

[entrez-1] Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin). （原始内容存档于2019-09-12）.

[pmid21402589-2] Wagner, N; Morrison, H; Pagnotta, S; Michiels, JF; Schwab, Y; Tryggvason, K; Schedl, A; Wagner, KD. The podocyte protein nephrin is required for cardiac vessel formation.. Human Molecular Genetics. 2011-03-29, 20 (11): 2182–94. PMID 21402589. doi:10.1093/hmg/ddr106.

[pmid15331416-3] 3.0 ^3.1 ^3.2 ^3.3 Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG. Nephrin forms a complex with adherens junction proteins and CASK in podocytes and in Madin-Darby canine kidney cells expressing nephrin. Am. J. Pathol. Sep 2004, 165 (3): 923–36. PMC 1618613 . PMID 15331416. doi:10.1016/S0002-9440(10)63354-8.

[pmid12846735-4] Lahdenperä J, Kilpeläinen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K. Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases. Kidney Int. Aug 2003, 64 (2): 404–13. PMID 12846735. doi:10.1046/j.1523-1755.2003.00097.x.

[pmid12668668-5] Verma R, Wharram B, Kovari I, Kunkel R, Nihalani D, Wary KK, Wiggins RC, Killen P, Holzman LB. Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin. J. Biol. Chem. Jun 2003, 278 (23): 20716–23. PMID 12668668. doi:10.1074/jbc.M301689200.

[pmid12865409-6] Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J. Clin. Invest. Jul 2003, 112 (2): 209–21. PMC 164293 . PMID 12865409. doi:10.1172/JCI18242.

[pmid12660326-7] Gerke P, Huber TB, Sellin L, Benzing T, Walz G. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. J. Am. Soc. Nephrol. Apr 2003, 14 (4): 918–26. PMID 12660326. doi:10.1097/01.ASN.0000057853.05686.89.

[pmid11733557-8] Schwarz K, Simons M, Reiser J, Saleem MA, Faul C, Kriz W, Shaw AS, Holzman LB, Mundel P. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. Dec 2001, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.

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