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
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]

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

参见

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. ^ 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. 
  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. 

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