KIRREL
位於1號人類染色體的基因
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]
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 | ||
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] | |
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、MIM607762)。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.