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腎病蛋白

维基百科,自由的百科全书
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
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]

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

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腎病蛋白已顯示出與下列蛋白之蛋白質交互作用

參見

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註釋

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  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可免费查阅. 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可免费查阅. 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可免费查阅. PMID 11733557. doi:10.1172/JCI12849. 

延伸閱讀

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外部連結

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