KIRREL3

位於11號人類染色體的基因

KIRRELKin of IRRE-like protein 3、類IRRE蛋白3系屬、不規則類視交叉蛋白3系屬(kin of irregular chiasm-like protein 3)、類腎蛋白2(NEPH2))是一種由KIRREL3基因所編碼的人類蛋白質[1]

類IRRE3系屬(果蠅)
(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是類跨膜蛋白腎病蛋白之蛋白質家族的成員,它包括NEPH1(KIRREL)及NEPH3(KIRREL2英语KIRREL2)。所述之類腎病蛋白之蛋白質可與腎病蛋白CASK英语CASK進行蛋白質交互作用

功能

NEPH2牽涉突觸的形成。[2] KIRREL3基因功能的破壞和功能異常有關。[3]

NEPH1及NEPH2都參與了腎臟血液過濾(Ultrafiltration (renal))的功能,且位於濾過裂隙中。[4]

註釋

  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). 

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