FIP1L1(factor interacting with PAPOLA and CPSF1),癌症关联基因,基因ID:81608,该基因编码cpsf(切割和聚腺苷酸化特异因子)复合物的一个亚单位,该复合物使mrna前体的3'端聚腺苷酸化。该基因是酵母Fip1(与PAP相互作用的因子)的同源基因,与富含U的pre-mRNA序列结合并刺激poly(A)聚合酶活性其N-末端包含PAP结合位点,C-末端包含RNA结合域4q12间质染色体缺失导致人类基因fip1l1和pdgfra(血小板衍生生长因子受体,α)的框内融合。fip1l1-pdgfra融合基因编码一个组成性激活的酪氨酸激酶,将fip1l1的前233个氨基酸连接到pdgfra的最后523个氨基酸。这种基因融合和染色体缺失是某些特发性嗜酸性粒细胞增多综合征(hes)的病因。该综合征最近被重新归类为慢性嗜酸性粒细胞白血病(cel),对酪氨酸激酶抑制剂的治疗有反应。选择性剪接导致编码不同亚型的多个转录变体。[由RefSeq提供,2008年10月]This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platel。