KIRREL

位於1號人類染色體的基因

KIRRELKin 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]

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
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是屬於「類腎病蛋白樣蛋白質家族」的成員,其包括NEPH2(MIM607761)及NEPH3(KIRREL2MIM607762)。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]緊密接頭蛋白1(Tight junction protein 1)[3][5]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 . 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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