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HGNC Approved Gene Symbol: FNBP1
Cytogenetic location: 9q34.11 Genomic coordinates (GRCh38) : 9:129,887,187-130,053,879 (from NCBI)
Fuchs et al. (2001) reported fusion of the gene that encodes formin-binding protein-17 (FBP17) to MLL at 11q13 in a child with acute myelogenous leukemia and a complex chromosome rearrangement, ins(11;9)(q23;134)inv(11)(q13q23). The fused mRNA was represented by MLL at the 5-prime end and FBP17 at the 3-prime end. Fuchs et al. (2001) found that the sequence of FBP17 matched that of a cDNA (KIAA0554) cloned from a brain cDNA library by Nagase et al. (1998). The predicted 679-amino acid protein shares 90% sequence homology with the mouse fbp17 protein. Fuchs et al. (2001) determined that MLL/FBP17 is found mainly in the nucleus, whereas FBP17 itself localizes exclusively in the cytoplasm.
Fuchs et al. (2001) retrovirally transduced murine myeloid progenitor cells with the fusion gene to test its transforming ability. In contrast to MLL/ENL (159556), MLL/ELL (600284), and other MLL fusion genes, MLL/FBP17 showed a barely detectable transforming ability. Fuchs et al. (2001) screened a human kidney library and identified a sorting nexin, SNX2 (605929), as a protein interaction partner of FBP17. These data provided a link between the epidermal growth factor receptor pathway and an MLL fusion protein.
Using the yeast 2-hybrid system, transfection studies, coimmunoprecipitation, and confocal microscopy, Fuchs et al. (2003) demonstrated that cytoplasmic tankyrase-1 interacts with endogenous FBP17. The C-terminal tankyrase-binding motif (RxxPDG) of FBP17 necessary for the interaction is also present in known tankyrase interaction partners IRAP (151300), TAB182 (607104) and TRF1 (600951), and is slightly varied in MCL1 (159552).
By sequence analysis, Fuchs et al. (2001) mapped the FBP17 gene to chromosome 9. Double-color FISH on samples from patients with chronic myeloid leukemia and a t(9;22)(q34;q11) revealed that FBP17 remains on 9q34. Thus, FBP17 maps centromeric to ABL.
Fuchs, U., Rehkamp, G., Haas, O. A., Slany, R., Konig, M., Bojesen, S., Bohle, R. M., Damm-Welk, C., Ludwig, W.-D., Harbott, J., Borkhardt, A. The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia. Proc. Nat. Acad. Sci. 98: 8756-8761, 2001. [PubMed: 11438682] [Full Text: https://doi.org/10.1073/pnas.121433898]
Fuchs, U., Rehkamp, G. F., Slany, R., Follo, M., Borkhardt, A. The formin-binding protein 17, FBP17, binds via a TNKS binding motif to tankyrase, a protein involved in telomere maintenance. FEBS Lett. 554: 10-16, 2003. [PubMed: 14596906] [Full Text: https://doi.org/10.1016/s0014-5793(03)01063-9]
Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 31-39, 1998. [PubMed: 9628581] [Full Text: https://doi.org/10.1093/dnares/5.1.31]