Fam114a1-KO 基因敲除小鼠

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产品名称

Fam114a1-KO 基因敲除小鼠

产品编号

S-KO-12681

品系全称

C57BL/6NCya-Fam114a1em1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-68303-Fam114a1-B6N-VA

品系状态

使用本品系发表的文献需注明: Fam114a1-KO 基因敲除小鼠 mice (Strain S-KO-12681) 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
family with sequence similarity 114, member A1
基因别称
1190001N04Rik,9130005N14Rik,Noxp20
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_026667 | Ensembl: ENSMUST00000031080
修饰方式
全身性基因敲除
靶向范围
Exon 4~7
敲除长度
~10.7 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
FAM114A1是家族114成员A1基因的缩写,该基因编码的蛋白质在多种生物学过程中发挥作用,包括细胞凋亡、细胞增殖、迁移、炎症反应和心脏重塑等。FAM114A1的表达和功能在多种疾病中均有所改变,如黑色素瘤、心脏疾病、肾病和肝癌等。

FAM114A1在黑色素瘤中表达上调,抑制FAM114A1的表达可以保护黑色素细胞免受细胞凋亡,增加细胞增殖、迁移和黑色素合成蛋白的表达,并降低细胞凋亡[1]。FAM114A1与RACK1相互作用,并负调节RACK1的表达,而RACK1的表达上调可以保护黑色素细胞免受细胞凋亡[1]。FAM114A1在心脏病理重塑中发挥重要作用,其表达在心脏疾病中上调,如心力衰竭和心肌梗死。FAM114A1在心脏成纤维细胞中表达最高,是心脏成纤维细胞增殖、激活和迁移的关键自体因子。FAM114A1与血管紧张素受体相关蛋白(AGTRAP)相互作用,调节血管紧张素1型受体(AT1R)的表达和下游血管紧张素II信号转导,进而影响促纤维化反应[2]。

FAM114A1在缺氧条件下表达上调,是缺氧相关基因之一。FAM114A1在血管内皮细胞中表达上调,可能与缺氧诱导的血管生成有关[3]。FAM114A1在乳腺癌中表达上调,与不良预后相关。FAM114A1与细胞凋亡和缺氧相关基因共同构建的基因签名可以独立预测乳腺癌患者的预后和免疫浸润情况[4]。FAM114A1在肾小球损伤中表达上调,定位于肾小球足细胞的初级和足突,并与F-肌动蛋白和粘着斑分子共定位。FAM114A1沉默会影响足细胞细胞骨架发育、细胞迁移和细胞附着[5]。FAM114A1在肝细胞癌中表达上调,抑制FAM114A1的表达可以降低细胞增殖和迁移,促进细胞凋亡,抑制细胞周期和EMT。FAM114A1通过调节AKT1的表达发挥其作用[6]。

FAM114A1在生殖系统中也发挥重要作用。FAM114A1的同源基因FAM114A2是一种精子结合蛋白,在哺乳动物中高度保守,但在小鼠中敲除FAM114A2并不影响雄性生育能力和精子形态[7]。FAM114A1与TLR6/10和Fcγ受体2a基因在4p14位点的表达相关,并与抗幽门螺杆菌抗体的水平相关,提示FAM114A1可能参与宿主对幽门螺杆菌感染的免疫反应[8]。

FAM114A1在胶质瘤中表达上调,与不良预后相关。FAM114A1通过激活VEGF信号通路促进胶质瘤的发病机制[9]。FAM114A1在家族性前列腺癌中表达上调,与前列腺癌的风险相关[10]。

综上所述,FAM114A1是一种多功能基因,参与调控多种生物学过程,包括细胞凋亡、细胞增殖、迁移、炎症反应和心脏重塑等。FAM114A1在多种疾病中发挥重要作用,包括黑色素瘤、心脏疾病、肾病、肝癌、生殖系统疾病和癌症等。FAM114A1的研究有助于深入理解其生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Zhou, Miaoni, Lin, Fuquan, Wu, Xingang, Jin, Rong, Xu, Aie. 2021. Inhibition of Fam114A1 protects melanocytes from apoptosis through higher RACK1 expression. In Aging, 13, 24740-24752. doi:10.18632/aging.203712. https://pubmed.ncbi.nlm.nih.gov/34837888/
2. Subbaiah, Kadiam C Venkata, Wu, Jiangbin, Tang, Wai Hong Wilson, Yao, Peng. 2022. FAM114A1 influences cardiac pathological remodeling by regulating angiotensin II signaling. In JCI insight, 7, . doi:10.1172/jci.insight.152783. https://pubmed.ncbi.nlm.nih.gov/35671117/
3. Stobdan, Tsering, Sahoo, Debashis, Haddad, Gabriel G. 2022. A Boolean approach for novel hypoxia-related gene discovery. In PloS one, 17, e0273524. doi:10.1371/journal.pone.0273524. https://pubmed.ncbi.nlm.nih.gov/36006949/
4. Ren, Xueting, Cui, Hanxiao, Wu, Jianhua, Kang, Huafeng, Lin, Shuai. 2022. Identification of a combined apoptosis and hypoxia gene signature for predicting prognosis and immune infiltration in breast cancer. In Cancer medicine, 11, 3886-3901. doi:10.1002/cam4.4755. https://pubmed.ncbi.nlm.nih.gov/35441810/
5. Hayashi, Norifumi, Kumar, Sudhir, Trivin-Avillach, Claire, Furuichi, Kengo, Beck, Laurence H. 2025. Characterization of FAM114A1: a novel podocyte cytoskeleton-associated protein upregulated in glomerular injury. In American journal of physiology. Renal physiology, 328, F289-F299. doi:10.1152/ajprenal.00203.2024. https://pubmed.ncbi.nlm.nih.gov/39819080/
6. Zhang, Haifeng, Zeng, Yu, Ye, Chihua, Cai, Jianwu, Hu, Xiao. . Inhibition of FAM114A1 Suppresses Hepatocellular Carcinoma by Targeting AKT1 Signaling. In Annals of clinical and laboratory science, 54, 378-387. doi:. https://pubmed.ncbi.nlm.nih.gov/39048162/
7. Khan, Asad, Yuewen, Wang, Dil, Sobia, Shi, Qinghua, Khan, Ranjha. 2021. The evolutionarily conserved gene, Fam114a2, is dispensable for fertility in mouse. In Reproductive biology, 21, 100531. doi:10.1016/j.repbio.2021.100531. https://pubmed.ncbi.nlm.nih.gov/34315090/
8. Sung, H, Camargo, M C, Yu, K, Albanes, D, Rabkin, C S. 2015. Association of 4p14 TLR locus with antibodies to Helicobacter pylori. In Genes and immunity, 16, 567-70. doi:10.1038/gene.2015.33. https://pubmed.ncbi.nlm.nih.gov/26312625/
9. Liu, Baoling, Su, Quanping, Xiao, Bolian, Che, Fengyuan, Heng, Xueyuan. 2021. RAB42 Promotes Glioma Pathogenesis via the VEGF Signaling Pathway. In Frontiers in oncology, 11, 657029. doi:10.3389/fonc.2021.657029. https://pubmed.ncbi.nlm.nih.gov/34912698/
10. Schaid, Daniel J, McDonnell, Shannon K, FitzGerald, Liesel M, Ostrander, Elaine A, Thibodeau, Stephen N. 2020. Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. In European urology, 79, 353-361. doi:10.1016/j.eururo.2020.07.038. https://pubmed.ncbi.nlm.nih.gov/32800727/