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维基百科

KIRREL3

KIRREL(Kin 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 编辑

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 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. (原始内容于2019-07-28). 

延伸閱讀 编辑

  • Davila S, Froeling FE, Tan A; et al. New genetic associations detected in a host response study to hepatitis B vaccine.. Genes Immun. 2010, 11 (3): 232–8. PMID 20237496. doi:10.1038/gene.2010.1. 
  • Anney RJ, Lasky-Su J, O'Dúshláine C; et al. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.. Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008, 147B (8): 1369–78. PMID 18951430. doi:10.1002/ajmg.b.30871. 
  • Rose JE, Behm FM, Drgon T; et al. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.. Mol. Med.: 247–53. PMC 2896464 . PMID 20379614. doi:10.2119/molmed.2009.00159. 
  • Eriksson N, Macpherson JM, Tung JY; et al. Web-based, participant-driven studies yield novel genetic associations for common traits.. PLoS Genet. 2010, 6 (6): e1000993. PMC 2891811 . PMID 20585627. doi:10.1371/journal.pgen.1000993. 
  • Bonaldo MF, Lennon G, Soares MB. Normalization and subtraction: two approaches to facilitate gene discovery.. Genome Res. 1996, 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791. 
  • Clark HF, Gurney AL, Abaya E; et al. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.. Genome Res. 2003, 13 (10): 2265–70. PMC 403697 . PMID 12975309. doi:10.1101/gr.1293003. 
  • Sellin L, Huber TB, Gerke P; et al. NEPH1 defines a novel family of podocin interacting proteins.. FASEB J. 2003, 17 (1): 115–7. PMID 12424224. doi:10.1096/fj.02-0242fje. 
  • Adkins DE, Aberg K, McClay JL; et al. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.. Mol. Psychiatry. 2011, 16 (3): 321–32. PMC 2891163 . PMID 20195266. doi:10.1038/mp.2010.14. 

kirrel3, kirrel, irre, like, protein, 類irre蛋白3系屬, 不規則類視交叉蛋白3系屬, irregular, chiasm, like, protein, 類腎蛋白2, neph2, 是一種由基因所編碼的人類蛋白質, 類irre3系屬, 果蠅, irre, like, 有效结构pdb, 直系同源检索, pdbe, rcsbpdb查询代码列表2cry标识代号, kirre, mrd4, neph2, pro4502扩展标识遗传学, 607761, 鼠基因, 1914953, 同. KIRREL Kin 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 RCSBPDB查询代码列表2CRY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基因本体论描述分子功能 protein binding细胞成分 extracellular region plasma membrane integral to membrane axon dendritic shaft生物过程 neuron migration principal sensory nucleus of trigeminal nerve development hemopoiesisSources Amigo QuickGO直系同源体物种人类小鼠Entrez8462367703EnsemblENSG00000149571ENSMUSG00000032036UniProtQ8IZU9Q8BR86mRNA序列NM 001161707NM 001190911蛋白序列NP 001155179NP 001177840基因位置Chr 11 126 29 126 87 MbChr 9 34 49 35 04 MbPubMed查询 1 2 查论编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及CASK 英语 CASK 進行蛋白質交互作用 功能 编辑NEPH2牽涉突觸的形成 2 KIRREL3基因功能的破壞和腦功能異常有關 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 编辑 Entrez Gene kin of IRRE like 3 Drosophila Peter Gerke Thomas Benzing Martin Hohne 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 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 nbsp PMID 19012874 doi 10 1016 j ajhg 2008 10 020 原始内容存档于2015 07 04 引文格式1维护 PMC格式 link Elke Neumann Haefelin Albrecht Kramer Zucker Krasimir Slanchev Bjorn Hartleben Foteini Noutsou Katrin Martin Nicola Wanner Alexander Ritter Markus Godel Philip Pagel Xiao Fu Alexandra Muller 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 延伸閱讀 编辑Davila S Froeling FE Tan A et al New genetic associations detected in a host response study to hepatitis B vaccine Genes Immun 2010 11 3 232 8 PMID 20237496 doi 10 1038 gene 2010 1 引文格式1维护 显式使用等标签 link Anney RJ Lasky Su J O Dushlaine C et al Conduct disorder and ADHD evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study Am J Med Genet B Neuropsychiatr Genet 2008 147B 8 1369 78 PMID 18951430 doi 10 1002 ajmg b 30871 引文格式1维护 显式使用等标签 link Rose JE Behm FM Drgon T et al Personalized smoking cessation interactions between nicotine dose dependence and quit success genotype score Mol Med 247 53 PMC 2896464 nbsp PMID 20379614 doi 10 2119 molmed 2009 00159 引文格式1维护 显式使用等标签 link Eriksson N Macpherson JM Tung JY et al Web based participant driven studies yield novel genetic associations for common traits PLoS Genet 2010 6 6 e1000993 PMC 2891811 nbsp PMID 20585627 doi 10 1371 journal pgen 1000993 引文格式1维护 显式使用等标签 link Bonaldo MF Lennon G Soares MB Normalization and subtraction two approaches to facilitate gene discovery Genome Res 1996 6 9 791 806 PMID 8889548 doi 10 1101 gr 6 9 791 Clark HF Gurney AL Abaya E et al The secreted protein discovery initiative SPDI a large scale effort to identify novel human secreted and transmembrane proteins a bioinformatics assessment Genome Res 2003 13 10 2265 70 PMC 403697 nbsp PMID 12975309 doi 10 1101 gr 1293003 引文格式1维护 显式使用等标签 link Sellin L Huber TB Gerke P et al NEPH1 defines a novel family of podocin interacting proteins FASEB J 2003 17 1 115 7 PMID 12424224 doi 10 1096 fj 02 0242fje 引文格式1维护 显式使用等标签 link Adkins DE Aberg K McClay JL et al Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs Mol Psychiatry 2011 16 3 321 32 PMC 2891163 nbsp PMID 20195266 doi 10 1038 mp 2010 14 引文格式1维护 显式使用等标签 link 取自 https zh wikipedia org w index php title KIRREL3 amp oldid 64160846, 维基百科,wiki,书籍,书籍,图书馆,

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