KIRREL

類IRRE系屬(果蠅)
(Kin of IRRE like)
标识
代号 KIRREL; NEPH1
扩展标识 遗传学：607428 同源基因：10089 GeneCards: KIRREL Gene
基因本体论描述
分子功能 · protein binding
· myosin binding
细胞成分 · plasma membrane

· cell-cell junction
· integral to membrane
· dendritic shaft

· perinuclear region of cytoplasm
生物过程 · negative regulation of protein phosphorylation

· excretion
· cell-cell adhesion

· positive regulation of actin filament polymerization
Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种 人类 小鼠
Entrez 55243 170643
Ensembl ENSG00000183853 ENSMUSG00000041734
UniProt Q96J84 Q80W68
mRNA序列 NM_018240 NM_001170985
蛋白序列 NP_060710 NP_001164456
基因位置 Chr 1:
157.96 – 158.07 Mb		 Chr 3:
87.08 – 87.17 Mb
PubMed查询 [1] [2]
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KIRREL（Kin of IRRE-like protein 1、類IRRE蛋白1系屬、亦被稱為NEPH1）是一種由KIRREL基因所編碼的人類蛋白質。[1][2]

NEPH1是屬於「類腎病蛋白樣蛋白質家族」的成員，其包括NEPH2（MIM607761）及NEPH3（KIRREL2、MIM607762）。這些蛋白的「胞質結構域」（cytoplasmic domain）與足蛋白（NPHS2；MIM 604766）的C末端交互作用。NEPH1用表達腎臟足細胞濾過裂隙，細胞涉及確保血液的大小及電荷選擇性的超濾作用（Sellin et al., 2003）。[由OMIM供給][2]

交互作用

KIRREL已顯示出與腎病蛋白[3][4] 及緊密接頭蛋白1（Tight junction protein 1）[3][5]有蛋白質交互作用。

註釋

  1. ^ Sellin L, Huber TB, Gerke P, Quack I, Pavenstadt H, Walz G. NEPH1 defines a novel family of podocin interacting proteins. FASEB J. Jan 2003, 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje. 
  2. ^ 2.0 2.1 Entrez Gene: KIRREL kin of IRRE like (Drosophila). （原始内容存档于2019-10-17）. 
  3. ^ 3.0 3.1 Liu, Gang; Kaw Beenu; Kurfis Jayson; Rahmanuddin Syed; Kanwar Yashpal S; Chugh Sumant S. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J. Clin. Invest. (United States). Jul 2003, 112 (2): 209–21. ISSN 0021-9738. PMC 164293 可免费查阅. PMID 12865409. doi:10.1172/JCI18242. 
  4. ^ Gerke, Peter; Huber Tobias B; Sellin Lorenz; Benzing Thomas; Walz Gerd. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. J. Am. Soc. Nephrol. (United States). Apr 2003, 14 (4): 918–26. ISSN 1046-6673. PMID 12660326. doi:10.1097/01.ASN.0000057853.05686.89. 
  5. ^ Huber, Tobias B; Schmidts Miriam; Gerke Peter; Schermer Bernhard; Zahn Anne; Hartleben Björn; Sellin Lorenz; Walz Gerd; Benzing Thomas. The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1. J. Biol. Chem. (United States). Apr 2003, 278 (15): 13417–21. ISSN 0021-9258. PMID 12578837. doi:10.1074/jbc.C200678200. 

延伸閱讀

  • Donoviel DB; Freed DD; Vogel H; et al. Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN.. Mol. Cell. Biol. 2001, 21 (14): 4829–36. PMC 87176 可免费查阅. PMID 11416156. doi:10.1128/MCB.21.14.4829-4836.2001. 
  • Strausberg RL; Feingold EA; Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241 可免费查阅. PMID 12477932. doi:10.1073/pnas.242603899. 
  • Huber TB; Schmidts M; Gerke P; et al. The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1.. J. Biol. Chem. 2003, 278 (15): 13417–21. PMID 12578837. doi:10.1074/jbc.C200678200. 
  • Barletta GM; Kovari IA; Verma RK; et al. Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers.. J. Biol. Chem. 2003, 278 (21): 19266–71. PMID 12646566. doi:10.1074/jbc.M301279200. 
  • Gerke P; Huber TB; Sellin L; et al. Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1.. J. Am. Soc. Nephrol. 2003, 14 (4): 918–26. PMID 12660326. doi:10.1097/01.ASN.0000057853.05686.89. 
  • Liu G; Kaw B; Kurfis J; et al. Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability.. J. Clin. Invest. 2003, 112 (2): 209–21. PMC 164293 可免费查阅. PMID 12865409. doi:10.1172/JCI18242. 
  • Ota T; Suzuki Y; Nishikawa T; et al. Complete sequencing and characterization of 21,243 full-length human cDNAs.. Nat. Genet. 2004, 36 (1): 40–5. PMID 14702039. doi:10.1038/ng1285. 
  • Brill LM; Salomon AR; Ficarro SB; et al. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.. Anal. Chem. 2004, 76 (10): 2763–72. PMID 15144186. doi:10.1021/ac035352d. 
  • Gerhard DS; Wagner L; Feingold EA; et al. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).. Genome Res. 2004, 14 (10B): 2121–7. PMC 528928 可免费查阅. PMID 15489334. doi:10.1101/gr.2596504. 
  • Kitamura A; Tsukaguchi H; Iijima K; et al. Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome.. Nephrol. Dial. Transplant. 2007, 21 (11): 3133–8. PMID 16968734. doi:10.1093/ndt/gfl347.