Nckap1-KO 基因敲除小鼠

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产品名称

Nckap1-KO 基因敲除小鼠

产品编号

S-KO-10243

品系全称

C57BL/6JCya-Nckap1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-50884-Nckap1-B6J-VA

品系状态

使用本品系发表的文献需注明: Nckap1-KO 基因敲除小鼠 mice (Strain S-KO-10243) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
NCK-associated protein 1
基因别称
H19,Hem-2,Hem2,Nap1,mKIAA0587,mh19,p125Nap1
染色体号
Chr 2 (Mouse)
转录本 ID
NCBI: NM_001290745 | Ensembl: ENSMUST00000111760
修饰方式
全身性基因敲除
靶向范围
Exon 10
敲除长度
~1.3 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:1355333Mice homozygous for disruptions in this gene exhibit growth arrest at midgestation, an open neural tube, cardia bifida, defective foregut development, defects in endoderm and mesoderm migration and sometimes duplication of the anteroposterior body axis.
NCKAP1,也称为NCK-associated protein 1,是一种重要的蛋白质,在多种生物学过程中发挥关键作用。NCKAP1主要在神经元中表达,参与调节神经元细胞骨架动力学和神经元分化[1]。此外,NCKAP1还与细胞死亡、肿瘤免疫和细胞生长等功能相关[2,3,4,5,6,7,8]。

在神经系统发育方面,NCKAP1具有重要作用。研究表明,NCKAP1在人类大脑中广泛表达,尤其在兴奋性神经元和放射状胶质细胞中富集表达,而在抑制性神经元中表达较少[1]。NCKAP1的缺失会导致神经元迁移障碍,从而影响神经系统的正常发育。在遗传性智力障碍(ID)患者中,NCKAP1的变异与神经发育迟缓、自闭症谱系障碍(ASD)和智力障碍等症状密切相关[1,3]。

在癌症研究领域,NCKAP1的表达、突变和甲基化水平在多种肿瘤类型中发生改变。研究发现,NCKAP1的表达与肺癌、肾细胞癌、乳腺癌等癌症的预后相关,低表达与不良预后有关[2,4,5,6,7,8]。此外,NCKAP1还与细胞死亡、肿瘤免疫和细胞生长等功能相关。例如,NCKAP1可以抑制乳腺癌细胞的侵袭和转移,而敲低NCKAP1可以抑制多种癌症细胞的侵袭能力[4,5]。此外,NCKAP1还与细胞凋亡相关,其表达下调可能与阿尔茨海默病的发生有关[7]。

综上所述,NCKAP1是一种重要的蛋白质,在神经系统发育、癌症发生和发展过程中发挥关键作用。NCKAP1的变异和表达异常与多种疾病的发生和发展密切相关。深入研究NCKAP1的生物学功能和调控机制,有助于揭示疾病的发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Eichler, Evan E, Xia, Kun. . NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism. In American journal of human genetics, 107, 963-976. doi:10.1016/j.ajhg.2020.10.002. https://pubmed.ncbi.nlm.nih.gov/33157009/
2. Zhu, Ankang, Zong, Yan, Wei, Shuai, Liu, Shaodong, Gao, Xingcai. 2023. Pan-cancer Analysis of the Disulfidptosis-related Gene NCKAP1 and Its Prognostic Value for Lung Adenocarcinoma. In Journal of Cancer, 14, 3351-3367. doi:10.7150/jca.88650. https://pubmed.ncbi.nlm.nih.gov/37928421/
3. Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Faqeih, Eissa, Alkuraya, Fowzan S. 2017. Expanding the genetic heterogeneity of intellectual disability. In Human genetics, 136, 1419-1429. doi:10.1007/s00439-017-1843-2. https://pubmed.ncbi.nlm.nih.gov/28940097/
4. Edwards, Jonathan J, Rouillard, Andrew D, Fernandez, Nicolas F, Ma'ayan, Avi, Gelb, Bruce D. 2020. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. In JACC. Basic to translational science, 5, 376-386. doi:10.1016/j.jacbts.2020.01.012. https://pubmed.ncbi.nlm.nih.gov/32368696/
5. Ni, Lina, Yang, Huizhen, Wu, Xiaoyu, Zhou, Kejin, Wang, Sheng. 2023. The expression and prognostic value of disulfidptosis progress in lung adenocarcinoma. In Aging, 15, 7741-7759. doi:10.18632/aging.204938. https://pubmed.ncbi.nlm.nih.gov/37552140/
6. Liang, Xiao, Hong, Aonan, Shen, Ruizhi, Zhu, Minmin, Tian, Weiqian. 2024. NCKAP1 as a prognostic and immunological biomarker: pan-cancer analysis and validation in renal clear cell carcinoma. In American journal of translational research, 16, 4083-4100. doi:10.62347/UKQB2042. https://pubmed.ncbi.nlm.nih.gov/39262720/
7. Teng, Yong, Qin, Haiyan, Bahassan, Abdulaziz, Kennedy, Eileen J, Cowell, John K. 2016. The WASF3-NCKAP1-CYFIP1 Complex Is Essential for Breast Cancer Metastasis. In Cancer research, 76, 5133-42. doi:10.1158/0008-5472.CAN-16-0562. https://pubmed.ncbi.nlm.nih.gov/27432794/
8. Suzuki, T, Nishiyama, K, Yamamoto, A, Kanazawa, I, Sakaki, Y. . Molecular cloning of a novel apoptosis-related gene, human Nap1 (NCKAP1), and its possible relation to Alzheimer disease. In Genomics, 63, 246-54. doi:. https://pubmed.ncbi.nlm.nih.gov/10673335/