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

腎病蛋白（）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：

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

參見

足蛋白

註釋

. （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. . Human Molecular Genetics. 2011-03-29, 20 (11): 2182–94. PMID 21402589. doi:10.1093/hmg/ddr106.
Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG. . 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. . 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. . 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. . 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. . 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. . J. Clin. Invest. Dec 2001, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.

延伸閱讀

Tryggvason K. . Adv. Nephrol. Necker Hosp. 2002, 31: 221–34. PMID 11692461.
Kestilä M; Lenkkeri U; Männikkö M; et al. . 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. . 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. . 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. . 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. . Am. J. Hum. Genet. 2000, 65 (6): 1785–90. PMC 1288392 . PMID 10577936. doi:10.1086/302687.
Aya K; Tanaka H; Seino Y. . 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. . Am. J. Physiol. Renal Physiol. 2000, 279 (4): F785–92. PMID 10997929.
Huber TB; Kottgen M; Schilling B; et al. . J. Biol. Chem. 2001, 276 (45): 41543–6. PMID 11562357. doi:10.1074/jbc.C100452200.
Palmén T; Ahola H; Palgi J; et al. . Diabetologia. 2002, 44 (10): 1274–80. PMID 11692176. doi:10.1007/s001250100641.
Schwarz K; Simons M; Reiser J; et al. . J. Clin. Invest. 2002, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.
Koziell A; Grech V; Hussain S; et al. . 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. . 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. . 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. . 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. . 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. . Diabetologia. 2003, 45 (11): 1572–6. PMID 12436341. doi:10.1007/s00125-002-0946-y.
Gigante M; Monno F; Roberto R; et al. . J. Nephrol. 2003, 15 (6): 696–702. PMID 12495287.
Pettersson-Fernholm K; Forsblom C; Perola M; et al. . 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

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[entrez-1] . （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. . Human Molecular Genetics. 2011-03-29, 20 (11): 2182–94. PMID 21402589. doi:10.1093/hmg/ddr106.

[pmid15331416-3] Lehtonen S, Lehtonen E, Kudlicka K, Holthöfer H, Farquhar MG. . 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. . 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. . 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. . 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. . 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. . J. Clin. Invest. Dec 2001, 108 (11): 1621–9. PMC 200981 . PMID 11733557. doi:10.1172/JCI12849.