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AF4/FMR2 family, member 1
Symbol(s) AFF1; AF-4; AF4; AF4-MLL; MGC134969; MLL/AF4; MLLT2; PBM1
External IDs OMIM: 159557 MGI1100819 Homologene4340
Human Mouse
Entrez 4299 17355
Ensembl na ENSMUSG00000029313
Uniprot na O35233
Refseq NM_005935 (mRNA)
NP_005926 (protein)
NM_001080798 (mRNA)
NP_001074267 (protein)
Location na Chr 5: 104.02 - 104.09 Mb
Pubmed search [1] [2]

AF4/FMR2 family, member 1, also known as AFF1, is a human gene.[1]

DISCONTINUED: The record for PBM1 has been withdrawn by HGNC.[1]


Further reading

  • Gu Y, Nakamura T, Alder H; et al. (1992). "The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene.". Cell. 71 (4): 701–8. PMID 1423625. 
  • Domer PH, Fakharzadeh SS, Chen CS; et al. (1993). "Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product.". Proc. Natl. Acad. Sci. U.S.A. 90 (16): 7884–8. PMID 7689231. 
  • Chen CS, Hilden JM, Frestedt J; et al. (1993). "The chromosome 4q21 gene (AF-4/FEL) is widely expressed in normal tissues and shows breakpoint diversity in t(4;11)(q21;q23) acute leukemia.". Blood. 82 (4): 1080–5. PMID 8353274. 
  • Morrissey J, Tkachuk DC, Milatovich A; et al. (1993). "A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias.". Blood. 81 (5): 1124–31. PMID 8443374. 
  • Nakamura T, Alder H, Gu Y; et al. (1993). "Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs.". Proc. Natl. Acad. Sci. U.S.A. 90 (10): 4631–5. PMID 8506309. 
  • Frestedt JL, Hilden JM, Kersey JH (1996). "AF4/FEL, a gene involved in infant leukemia: sequence variations, gene structure, and possible homology with a genomic sequence on 5q31.". DNA Cell Biol. 15 (8): 669–78. PMID 8769569. 
  • Nilson I, Reichel M, Ennas MG; et al. (1997). "Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia.". Br. J. Haematol. 98 (1): 157–69. PMID 9233580. 
  • Megonigal MD, Rappaport EF, Jones DH; et al. (1997). "Panhandle PCR strategy to amplify MLL genomic breakpoints in treatment-related leukemias.". Proc. Natl. Acad. Sci. U.S.A. 94 (21): 11583–8. PMID 9326653. 
  • Felix CA, Kim CS, Megonigal MD; et al. (1997). "Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene.". Blood. 90 (12): 4679–86. PMID 9389682. 
  • Isnard P, Depetris D, Mattei MG; et al. (1999). "cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia.". Mamm. Genome. 9 (12): 1065–8. PMID 9880680. 
  • Felix CA, Hosler MR, Slater DJ; et al. (2000). "Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints.". Mol. Diagn. 4 (4): 269–83. PMID 10671636. doi:10.154/MODI00400269. 
  • Reichel M, Gillert E, Breitenlohner I; et al. (2001). "Rapid isolation of chromosomal breakpoints from patients with t(4;11) acute lymphoblastic leukemia: implications for basic and clinical research.". Leukemia. 15 (2): 286–8. PMID 11236948. 
  • Raffini LJ, Slater DJ, Rappaport EF; et al. (2002). "Panhandle and reverse-panhandle PCR enable cloning of der(11) and der(other) genomic breakpoint junctions of MLL translocations and identify complex translocation of MLL, AF-4, and CDK6.". Proc. Natl. Acad. Sci. U.S.A. 99 (7): 4568–73. PMID 11930009. doi:10.1073/pnas.062066799. 
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932. doi:10.1073/pnas.242603899. 
  • Bertrand FE, Spengeman JD, Shah N, LeBien TW (2004). "B-cell development in the presence of the MLL/AF4 oncoprotein proceeds in the absence of HOX A7 and HOX A9 expression.". Leukemia. 17 (12): 2454–9. PMID 14562113. doi:10.1038/sj.leu.2403178. 
  • Caslini C, Serna A, Rossi V; et al. (2004). "Modulation of cell cycle by graded expression of MLL-AF4 fusion oncoprotein.". Leukemia. 18 (6): 1064–71. PMID 14990976. doi:10.1038/sj.leu.2403321. 
  • Bursen A, Moritz S, Gaussmann A; et al. (2004). "Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology?". Oncogene. 23 (37): 6237–49. PMID 15221006. doi:10.1038/sj.onc.1207837. 
  • Colland F, Jacq X, Trouplin V; et al. (2004). "Functional proteomics mapping of a human signaling pathway.". Genome Res. 14 (7): 1324–32. PMID 15231748. doi:10.1101/gr.2334104. 
  • Beausoleil SA, Jedrychowski M, Schwartz D; et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. PMID 15302935. doi:10.1073/pnas.0404720101. 
  • Xia ZB, Popovic R, Chen J; et al. (2005). "The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression.". Proc. Natl. Acad. Sci. U.S.A. 102 (39): 14028–33. PMID 16169901. doi:10.1073/pnas.0506464102.