| 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。
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。
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：
參見
註釋
延伸閱讀
- 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.
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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.
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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.
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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.
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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.
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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.
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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.
