该基因编码属于与染色质重塑相关的锌指DNA结合蛋白家族的转录因子。这种蛋白的表达仅限于胎儿和成人的血液淋巴细胞生成系统,并作为淋巴细胞分化的调节器。一些选择性剪接转录变异体编码不同亚型已被描述为这个基因。大多数亚型共享一个共同的C端结构域,其中包含两个锌指基序,这两个基序是异二聚或同二聚以及与其他蛋白质相互作用所必需的。然而,这些亚型在结合DNA的N末端锌指基序的数量和核定位信号的存在上有所不同,从而导致具有或不具有DNA结合特性的成员。只有少数亚型含有必需的三个或更多的N末端锌基序,这些基序赋予靶基因启动子中特定核心DNA序列元件高亲和力结合。非DNA结合亚型主要存在于细胞质中,被认为是显性负性因子。某些显性阴性亚型的过度表达与B细胞恶性肿瘤有关,如急性淋巴细胞白血病(ALL)。
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL).

基因名:IKZF1
别名:CVID13,Hs.54452,IK1,IKAROS,LYF1,LyF-1,PPP1R92,PRO0758,ZNFN1A1
基因ID:10320
Chromosome:
(GRCh37)
7 Start: 50343720 End: 50472799 Strand: 1
信号通路: 免疫相关