肾病蛋白

肾病蛋白（Nephrin）对于"肾小球滤过屏障"(renal filtration barrier)的适当运作是必需要的蛋白质。"肾小球滤过屏障"由"窗孔内皮细胞"(fenestrated endothelial cell)、肾小球基底膜(GBM)，以及"上皮细胞"(epithelial cell)之足细胞所组成。肾病蛋白是一种跨膜蛋白，它是滤过裂隙的一个结构部件。^[1]

肾病1、先天性、芬兰型(肾病蛋白)
标识
代号	NPHS1; CNF; NPHN; 肾病蛋白
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	小鼠
Entrez	4868	54631
Ensembl	ENSG00000161270	ENSMUSG00000006649
UniProt	O60500	Q9QZS7
mRNA序列	NM_004646	NM_019459
蛋白序列	NP_004637	NP_062332
基因位置	Chr 19: 36.32 – 36.36 Mb	Chr 7: 30.46 – 30.49 Mb
PubMed查询	[1]	[2]
查 论 编

在肾病蛋白、NPHS1、基因中的缺陷，与"芬兰型先天性肾病综合症"(congenital nephrotic syndrome)有所相关联，并且导致蛋白质大量被泄漏到尿，或蛋白尿里。而"心血管"(cardiovascular)的发展需要肾病蛋白。^[2]

交互作用

肾病蛋白已显示出与下列蛋白之蛋白质交互作用：

• CASK,^[3]
• CD2AP,^[3]
• CDH3^[3] and
• CTNND1,^[3]
• FYN,^[4][5]
• KIRREL,^[6][7] and
• NPHS2.^[8]

参见

• 足蛋白

注释

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

延伸阅读

• 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.

外部链接

• 医学主题词表（MeSH）：nephrin