Katoh Masuko, Katoh Masaru
M&M Medical BioInformatics, Narashino 275-0022, Japan.
Int J Oncol. 2003 May;22(5):1161-8.
FMNL (NM_005892.2) is a 5'-truncated partial cDNA encoding a Formin-homology protein related to DAAM1, DAAM2, DIAPH1 and DIAPH2. Here, we identified three members of FMNL gene family in the human genome by using bioinformatics. FMNL1 gene, corresponding to 5'-truncated KW-13 and FMNL cDNAs, was located within reference genomic contig NT_010748.9 (nucleotide position 100576-125849, forward orientation). FMNL2 gene, corresponding to KIAA1902 and FHOD2 cDNAs, was located within NT_005151.10 (nucleotide position 122465-436828, forward orientation). FMNL3 gene, corresponding to 5'-truncated DKFZp762B245 and KIAA2014 cDNAs, was located within NT_026397.10 (nucleotide position 209769-279037, reverse orientation). FMNL1, FMNL2 and FMNL3 genes encode A and B isoforms with the C-terminal divergence due to alternative splicing (cassette splicing of exon 26). FMNL1A (1100 aa), FMNL1B (1114 aa), FMNL2A (1087 aa), FMNL2B (1093 aa), FMNL3A (1028 aa) and FMNL3B (1027 aa) consist of FDD, FH1 and FH2 domains. Total amino-acid identity were as follows: FMNL1A vs. FMNL2A, 59.3%; FMNL1A vs. FMNL3A, 56.1%; FMNL2A vs. FMNL3A, 68.6%. FMNL1 gene was mapped to human chromosome 17q21. FMNL2 gene was linked to FNBP3/HYPA gene on chromosome 2q23.3, while FMNL3 gene was linked to FNBP3L/HYPC gene on chromosome 12q13. FMNL1 mRNA was expressed in natural killer cells, Burkitt lymphoma, pancreatic cancer, prostate cancer, and lung large cell carcinoma, FMNL2 mRNA in several normal tissues, diffuse-type gastric cancer, breast cancer, chondrosarcoma, melanoma, and glioblastoma, and FMNL3 mRNA in gastric cancer. FMNL1, FMNL2 and FMNL3 might be implicated in polarity control, invasion, migration, or metastasis through regulation of the Rho-related signaling pathway.
FMNL（NM_005892.2）是一个5'端截短的部分cDNA，编码一种与DAAM1、DAAM2、DIAPH1和DIAPH2相关的formin同源蛋白。在此，我们通过生物信息学方法在人类基因组中鉴定出FMNL基因家族的三个成员。FMNL1基因，对应于5'端截短的KW-13和FMNL cDNA，位于参考基因组重叠群NT_010748.9（核苷酸位置100576 - 125849，正向）内。FMNL2基因，对应于KIAA1902和FHOD2 cDNA，位于NT_005151.10（核苷酸位置122465 - 436828，正向）内。FMNL3基因，对应于5'端截短的DKFZp762B245和KIAA2014 cDNA，位于NT_026397.10（核苷酸位置209769 - 279037，反向）内。FMNL1、FMNL2和FMNL3基因编码A和B两种亚型，由于外显子26的选择性剪接（盒式剪接）导致C末端存在差异。FMNL1A（1100个氨基酸）、FMNL1B（1114个氨基酸）、FMNL2A（1087个氨基酸）、FMNL2B（1093个氨基酸）、FMNL3A（1028个氨基酸）和FMNL3B（1027个氨基酸）均由FDD、FH1和FH2结构域组成。总的氨基酸同一性如下：FMNL1A与FMNL2A为59.3%；FMNL1A与FMNL3A为56.1%；FMNL2A与FMNL3A为68.6%。FMNL1基因定位于人类染色体17q21。FMNL2基因与2号染色体2q23.3上的FNBP3/HYPA基因连锁，而FMNL3基因与12号染色体12q13上的FNBP3L/HYPC基因连锁。FMNL1 mRNA在自然杀伤细胞、伯基特淋巴瘤、胰腺癌、前列腺癌和肺大细胞癌中表达，FMNL2 mRNA在几种正常组织、弥漫型胃癌、乳腺癌、软骨肉瘤、黑色素瘤和胶质母细胞瘤中表达，FMNL3 mRNA在胃癌中表达。FMNL1、FMNL2和FMNL3可能通过调节Rho相关信号通路参与极性控制、侵袭、迁移或转移过程。
