KIRREL

类IRRE系属(果蝇)
(Kin of IRRE like)
类IRRE系属(果蝇); (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
Entrez	55243
Ensembl	ENSG00000183853
UniProt	Q96J84
mRNA序列	NM_018240
蛋白序列	NP_060710
基因位置	Chr 1:; 157.96 – 158.07 Mb
PubMed查询	[1]
	查; 论; 编;

KIRREL（Kin of IRRE-like protein 1、类IRRE蛋白1系属、亦被称为NEPH1）是一种由KIRREL基因所编码的人类蛋白质。^[1]^[2]

NEPH1是属于“类肾病蛋白样蛋白质家族”的成员，其包括NEPH2（MIM607761）及NEPH3（KIRREL2、MIM 607762）。这些蛋白的“胞质结构域”（cytoplasmic domain）与足蛋白（NPHS2；MIM 604766）的C末端交互作用。NEPH1用表达肾脏足细胞滤过裂隙，细胞涉及确保血液的大小及电荷选择性的超滤作用（Sellin et al., 2003）。[由OMIM供给]^[2]

交互作用

KIRREL已显示出与肾病蛋白^[3]^[4] 及紧密接头蛋白1（Tight junction protein 1）^[3]^[5]有蛋白质交互作用。

注释

^ 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.
^ ^2.0 ^2.1 Entrez Gene: KIRREL kin of IRRE like (Drosophila). （原始内容存档于2019-10-17）.
^ ^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  . PMID 12865409. doi:10.1172/JCI18242.
^ 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.
^ 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.

延伸阅读

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  . 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  . 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  . 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  . 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.

[pmid12424224-1] 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.

[entrez-2] 2.0 ^2.1 Entrez Gene: KIRREL kin of IRRE like (Drosophila). （原始内容存档于2019-10-17）.

[pmid12865409-3] 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  . PMID 12865409. doi:10.1172/JCI18242.

[pmid12660326-4] 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.

[pmid12578837-5] 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.

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