KIRREL3

位於11號人類染色體的基因

KIRRELKin of IRRE-like protein 3、类IRRE蛋白3系属、不规则类视交叉蛋白3系属(kin of irregular chiasm-like protein 3)、类肾蛋白2(NEPH2))是一种由KIRREL3基因所编码的人类蛋白质[1]

类IRRE3系属(果蝇)
(Kin of IRRE like 3)
有效结构
PDB 直系同源检索:PDBe, RCSB
标识
代号 KIRREL3; KIRRE; MRD4; NEPH2; PRO4502
扩展标识 遗传学607761 鼠基因1914953 同源基因57050 GeneCards: KIRREL3 Gene
直系同源体
物种 人类 小鼠
Entrez 84623 67703
Ensembl ENSG00000149571 ENSMUSG00000032036
UniProt Q8IZU9 Q8BR86
mRNA序列 NM_001161707 NM_001190911
蛋白序列 NP_001155179 NP_001177840
基因位置 Chr 11:
126.29 – 126.87 Mb
Chr 9:
34.49 – 35.04 Mb
PubMed查询 [1] [2]

NEPH2是类跨膜蛋白肾病蛋白之蛋白质家族的成员,它包括NEPH1(KIRREL)及NEPH3(KIRREL2英语KIRREL2)。所述之类肾病蛋白之蛋白质可与肾病蛋白CASK英语CASK进行蛋白质交互作用

功能

编辑

NEPH2牵涉突触的形成。[2] KIRREL3基因功能的破坏和功能异常有关。[3]

NEPH1及NEPH2都参与了肾脏血液过滤(Ultrafiltration (renal))的功能,且位于滤过裂隙中。[4]

注释

编辑
  1. ^ Entrez Gene: kin of IRRE like 3 (Drosophila). 
  2. ^ Peter Gerke, Thomas Benzing, Martin Höhne, Andreas Kispert, Michael Frotscher, Gerd Walz, Oliver Kretz. Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis. The Journal of Comparative Neurology. 2006-10-01, 498 (4): 466–475 [2019-02-12]. ISSN 0021-9967. PMID 16874800. doi:10.1002/cne.21064. (原始内容存档于2020-03-02). 
  3. ^ Kavita Bhalla, Yue Luo, Tim Buchan, Michael A. Beachem, Gregory F. Guzauskas, Sydney Ladd, Shelly J. Bratcher, Richard J. Schroer, Janne Balsamo, Barbara R. DuPont, Jack Lilien, Anand K. Srivastava. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. American Journal of Human Genetics. 2008-12, 83 (6): 703–713 [2019-02-12]. ISSN 1537-6605. PMC 2668064 . PMID 19012874. doi:10.1016/j.ajhg.2008.10.020. (原始内容存档于2015-07-04). 
  4. ^ Elke Neumann-Haefelin, Albrecht Kramer-Zucker, Krasimir Slanchev, Björn Hartleben, Foteini Noutsou, Katrin Martin, Nicola Wanner, Alexander Ritter, Markus Gödel, Philip Pagel, Xiao Fu, Alexandra Müller, Ralf Baumeister, Gerd Walz, Tobias B. Huber. A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis. Human Molecular Genetics. 2010-06-15, 19 (12): 2347–2359 [2019-02-12]. ISSN 1460-2083. PMID 20233749. doi:10.1093/hmg/ddq108. (原始内容存档于2019-07-28). 

延伸阅读

编辑