KIRREL

位於1號人類染色體的基因

KIRRELKin 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(KIRREL2MIM607762)。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]紧密接头蛋白1(Tight junction protein 1)[3][5]蛋白质交互作用

注释

  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 . 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. 

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