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AFF1

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Infobox_gene}}

AF4/FMR2 family member 1 is a protein that in humans is encoded by the AFF1 gene.{{cite journal | vauthors = Domer PH, Fakharzadeh SS, Chen CS, Jockel J, Johansen L, Silverman GA, Kersey JH, Korsmeyer SJ | title = Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 16 | pages = 7884–8 | date = August 1993 | pmid = 7689231 | pmc = 47247 | doi = 10.1073/pnas.90.16.7884 | bibcode = 1993PNAS...90.7884D | doi-access = free }}{{cite journal | vauthors = Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce CM, Canaani E | title = The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene | journal = Cell | volume = 71 | issue = 4 | pages = 701–8 | date = November 1992 | pmid = 1423625 | doi = 10.1016/0092-8674(92)90603-A | s2cid = 6257922 }}{{cite journal | vauthors = Chen CS, Hilden JM, Frestedt J, Domer PH, Moore R, Korsmeyer SJ, Kersey JH | title = 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 | journal = Blood | volume = 82 | issue = 4 | pages = 1080–5 | date = August 1993 | doi = 10.1182/blood.V82.4.1080.bloodjournal8241080 | pmid = 8353274 | doi-access = free }}{{cite web | title = Entrez Gene: AFF1 AF4/FMR2 family, member 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4299| access-date = }} At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias. It was previously known as AF4 (ALL1-fused gene from chromosome 4).

The gene is a member of the AF4/FMR2 (AFF) family, a group of nuclear transcriptional activators which encourage RNA elongation. It is a component of the super elongation complex.{{cite journal | vauthors = Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B | title = Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability | journal = Human Molecular Genetics | volume = 20 | issue = 10 | pages = 1873–85 | date = May 2011 | pmid = 21330300 | doi = 10.1093/hmg/ddr069 | doi-access = free }} It is recognized as a proto-oncogene: chromosomal translocations associated with leukemia can fuse this gene with others like KMT2A, producing an uncontrolled activator protein.

References

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External links

  • {{UCSC gene info|AFF1}}

Further reading

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  • {{cite journal | vauthors = Morrissey J, Tkachuk DC, Milatovich A, Francke U, Link M, Cleary ML | title = A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias | journal = Blood | volume = 81 | issue = 5 | pages = 1124–31 | date = March 1993 | pmid = 8443374 | doi = 10.1182/blood.V81.5.1124.1124| doi-access = free }}
  • {{cite journal | vauthors = Nakamura T, Alder H, Gu Y, Prasad R, Canaani O, Kamada N, Gale RP, Lange B, Crist WM, Nowell PC | title = Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 90 | issue = 10 | pages = 4631–5 | date = May 1993 | pmid = 8506309 | pmc = 46566 | doi = 10.1073/pnas.90.10.4631 | bibcode = 1993PNAS...90.4631N | doi-access = free }}
  • {{cite journal | vauthors = Frestedt JL, Hilden JM, Kersey JH | title = AF4/FEL, a gene involved in infant leukemia: sequence variations, gene structure, and possible homology with a genomic sequence on 5q31 | journal = DNA and Cell Biology | volume = 15 | issue = 8 | pages = 669–78 | date = August 1996 | pmid = 8769569 | doi = 10.1089/dna.1996.15.669 }}
  • {{cite journal | vauthors = Nilson I, Reichel M, Ennas MG, Greim R, Knörr C, Siegler G, Greil J, Fey GH, Marschalek R | title = 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 | journal = British Journal of Haematology | volume = 98 | issue = 1 | pages = 157–69 | date = July 1997 | pmid = 9233580 | doi = 10.1046/j.1365-2141.1997.1522966.x | s2cid = 25176760 | doi-access = free }}
  • {{cite journal | vauthors = Megonigal MD, Rappaport EF, Jones DH, Kim CS, Nowell PC, Lange BJ, Felix CA | title = Panhandle PCR strategy to amplify MLL genomic breakpoints in treatment-related leukemias | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 94 | issue = 21 | pages = 11583–8 | date = October 1997 | pmid = 9326653 | pmc = 23546 | doi = 10.1073/pnas.94.21.11583 | bibcode = 1997PNAS...9411583M | doi-access = free }}
  • {{cite journal | vauthors = Felix CA, Kim CS, Megonigal MD, Slater DJ, Jones DH, Spinner NB, Stump T, Hosler MR, Nowell PC, Lange BJ, Rappaport EF | title = Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene | journal = Blood | volume = 90 | issue = 12 | pages = 4679–86 | date = December 1997 | pmid = 9389682 | doi = 10.1182/blood.V90.12.4679| doi-access = free }}
  • {{cite journal | vauthors = Isnard P, Depetris D, Mattei MG, Ferrier P, Djabali M | title = cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia | journal = Mammalian Genome | volume = 9 | issue = 12 | pages = 1065–8 | date = December 1998 | pmid = 9880680 | doi = 10.1007/s003359900927 | s2cid = 29956410 }}
  • {{cite journal | vauthors = Felix CA, Hosler MR, Slater DJ, Megonigal MD, Lovett BD, Williams TM, Nowell PC, Spinner NB, Owens NL, Hoxie J, Croce CM, Lange BJ, Rappaport EF | title = Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints | journal = Molecular Diagnosis | volume = 4 | issue = 4 | pages = 269–83 | date = December 1999 | pmid = 10671636 | doi = 10.1016/S1084-8592(99)80002-2 }}
  • {{cite journal | vauthors = Reichel M, Gillert E, Breitenlohner I, Angermüller S, Fey GH, Marschalek R, Repp R, Greil J, Beck JD | title = Rapid isolation of chromosomal breakpoints from patients with t(4;11) acute lymphoblastic leukemia: implications for basic and clinical research | journal = Leukemia | volume = 15 | issue = 2 | pages = 286–8 | date = February 2001 | pmid = 11236948 | doi = 10.1038/sj.leu.2402018 | s2cid = 42706811 | doi-access = }}
  • {{cite journal | vauthors = Raffini LJ, Slater DJ, Rappaport EF, Lo Nigro L, Cheung NK, Biegel JA, Nowell PC, Lange BJ, Felix CA | title = 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 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 7 | pages = 4568–73 | date = April 2002 | pmid = 11930009 | pmc = 123688 | doi = 10.1073/pnas.062066799 | bibcode = 2002PNAS...99.4568R | doi-access = free }}
  • {{cite journal | vauthors = Bertrand FE, Spengeman JD, Shah N, LeBien TW | title = B-cell development in the presence of the MLL/AF4 oncoprotein proceeds in the absence of HOX A7 and HOX A9 expression | journal = Leukemia | volume = 17 | issue = 12 | pages = 2454–9 | date = December 2003 | pmid = 14562113 | doi = 10.1038/sj.leu.2403178 | s2cid = 10639425 | doi-access = }}
  • {{cite journal | vauthors = Caslini C, Serna A, Rossi V, Introna M, Biondi A | title = Modulation of cell cycle by graded expression of MLL-AF4 fusion oncoprotein | journal = Leukemia | volume = 18 | issue = 6 | pages = 1064–71 | date = June 2004 | pmid = 14990976 | doi = 10.1038/sj.leu.2403321 | s2cid = 19189264 | doi-access = }}
  • {{cite journal | vauthors = Bursen A, Moritz S, Gaussmann A, Moritz S, Dingermann T, Marschalek R | title = Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology? | journal = Oncogene | volume = 23 | issue = 37 | pages = 6237–49 | date = August 2004 | pmid = 15221006 | doi = 10.1038/sj.onc.1207837 | s2cid = 9645787 | doi-access = free }}
  • {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Research | volume = 14 | issue = 7 | pages = 1324–32 | date = July 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
  • {{cite journal | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 33 | pages = 12130–5 | date = August 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 | bibcode = 2004PNAS..10112130B | doi-access = free }}
  • {{cite journal | vauthors = Xia ZB, Popovic R, Chen J, Theisler C, Stuart T, Santillan DA, Erfurth F, Diaz MO, Zeleznik-Le NJ | title = The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 102 | issue = 39 | pages = 14028–33 | date = September 2005 | pmid = 16169901 | pmc = 1236570 | doi = 10.1073/pnas.0506464102 | doi-access = free }}

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