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维基百科

腎病蛋白

十二月 25, 2023

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]

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]

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 编辑

腎病蛋白已顯示出與下列蛋白之蛋白質交互作用：

參見 编辑

註釋 编辑

  1. ^ Entrez Gene: NPHS1 nephrosis 1, congenital, Finnish type (nephrin). （原始内容于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. 

延伸閱讀 编辑

  • 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 编辑

十二月 25, 2023
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, 窗孔內皮細胞, fenestrated, endothelial, cell, 腎小球基底膜, 以及, 上皮細胞, epithelial, cell, 之足細胞所組成, 是一種跨膜蛋白, 它是濾過裂隙的一個結構部件, 腎病1, 先天性, 芬蘭型, 标识代号nphs1, nphn, 扩展标识遗传学, 602716, 鼠基因, 1859637, 同源基因, 20. 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 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 developmentSources Amigo QuickGO直系同源体物种人类小鼠Entrez486854631EnsemblENSG00000161270ENSMUSG00000006649UniProtO60500Q9QZS7mRNA序列NM 004646NM 019459蛋白序列NP 004637NP 062332基因位置Chr 19 36 32 36 36 MbChr 7 30 46 30 49 MbPubMed查询 1 2 查论编在腎病蛋白 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 目录 1 交互作用 2 參見 3 註釋 4 延伸閱讀 5 外部連結交互作用 编辑腎病蛋白已顯示出與下列蛋白之蛋白質交互作用 CASK 3 CD2AP 3 CDH3 3 and CTNND1 3 FYN 4 5 KIRREL 6 7 and NPHS2 8 參見 编辑足蛋白註釋 编辑 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 Holthofer 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 nbsp PMID 15331416 doi 10 1016 S0002 9440 10 63354 8 Lahdenpera J Kilpelainen 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 nbsp 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 nbsp PMID 11733557 doi 10 1172 JCI12849 延伸閱讀 编辑Tryggvason K Nephrin role in normal kidney and in disease Adv Nephrol Necker Hosp 2002 31 221 34 PMID 11692461 Kestila M Lenkkeri U Mannikko 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 Mannikko 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 nbsp 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 nbsp PMID 10393930 doi 10 1073 pnas 96 14 7962 Holthofer 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 nbsp 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 nbsp 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 Palmen 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 nbsp 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 nbsp 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 编辑醫學主題詞表 MeSH nephrin 取自 https zh wikipedia org w index php title 腎病蛋白 amp oldid 79630076, 维基百科，wiki，书籍，书籍，图书馆，

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