AFF1

AF4/FMR2 family member 1 is a protein that in humans is encoded by the AFF1 gene.[5][6][7][8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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).[8]

AFF1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LM0
Identifiers
Aliases	AFF1, AF4, MLLT2, PBM1, AF4/FMR2 family member 1
External IDs	OMIM: 159557 MGI: 1100819 HomoloGene: 4340 GeneCards: AFF1
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q21.3-q22.1 Start 86,935,002 bp[1] End 87,141,054 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 E5|5 50.45 cM Start 103,692,374 bp[2] End 103,855,322 bp[2]
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • GO:0001948 protein binding • double-stranded DNA binding Cellular component • cell nucleus • transcription elongation factor complex • ELL-EAF complex Biological process • regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4299	17355
Ensembl	ENSG00000172493	ENSMUSG00000029313
UniProt	P51825	O88573
RefSeq (mRNA)	NM_001313959 NM_001313960 NM_001166693 NM_005935	NM_001080798 NM_133919
RefSeq (protein)	NP_001160165 NP_001300888 NP_001300889 NP_005926	n/a
Location (UCSC)	Chr 4: 86.94 – 87.14 Mb	Chr 5: 103.69 – 103.86 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[9] 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.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000172493 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000029313 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Domer PH, Fakharzadeh SS, Chen CS, Jockel J, Johansen L, Silverman GA, Kersey JH, Korsmeyer SJ (August 1993). "Acute mixed-lineage leukemia t(4;11)(q21;q23) generates an MLL-AF4 fusion product". Proceedings of the National Academy of Sciences of the United States of America. 90 (16): 7884–8. Bibcode:1993PNAS...90.7884D. doi:10.1073/pnas.90.16.7884. PMC 47247. PMID 7689231.
6. Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce CM, Canaani E (November 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. doi:10.1016/0092-8674(92)90603-A. PMID 1423625.
7. Chen CS, Hilden JM, Frestedt J, Domer PH, Moore R, Korsmeyer SJ, Kersey JH (August 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.
8. "Entrez Gene: AFF1 AF4/FMR2 family, member 1".
9. Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B (May 2011). "Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability". Human Molecular Genetics. 20 (10): 1873–85. doi:10.1093/hmg/ddr069. PMID 21330300.

External links

• Human AFF1 genome location and AFF1 gene details page in the UCSC Genome Browser.

Further reading

• Morrissey J, Tkachuk DC, Milatovich A, Francke U, Link M, Cleary ML (March 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, Prasad R, Canaani O, Kamada N, Gale RP, Lange B, Crist WM, Nowell PC (May 1993). "Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs". Proceedings of the National Academy of Sciences of the United States of America. 90 (10): 4631–5. Bibcode:1993PNAS...90.4631N. doi:10.1073/pnas.90.10.4631. PMC 46566. PMID 8506309.
• Frestedt JL, Hilden JM, Kersey JH (August 1996). "AF4/FEL, a gene involved in infant leukemia: sequence variations, gene structure, and possible homology with a genomic sequence on 5q31". DNA and Cell Biology. 15 (8): 669–78. doi:10.1089/dna.1996.15.669. PMID 8769569.
• Nilson I, Reichel M, Ennas MG, Greim R, Knörr C, Siegler G, Greil J, Fey GH, Marschalek R (July 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". British Journal of Haematology. 98 (1): 157–69. doi:10.1046/j.1365-2141.1997.1522966.x. PMID 9233580.
• Megonigal MD, Rappaport EF, Jones DH, Kim CS, Nowell PC, Lange BJ, Felix CA (October 1997). "Panhandle PCR strategy to amplify MLL genomic breakpoints in treatment-related leukemias". Proceedings of the National Academy of Sciences of the United States of America. 94 (21): 11583–8. Bibcode:1997PNAS...9411583M. doi:10.1073/pnas.94.21.11583. PMC 23546. PMID 9326653.
• Felix CA, Kim CS, Megonigal MD, Slater DJ, Jones DH, Spinner NB, Stump T, Hosler MR, Nowell PC, Lange BJ, Rappaport EF (December 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, Ferrier P, Djabali M (December 1998). "cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia". Mammalian Genome. 9 (12): 1065–8. doi:10.1007/s003359900927. PMID 9880680.
• 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 (December 1999). "Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints". Molecular Diagnosis. 4 (4): 269–83. doi:10.1016/S1084-8592(99)80002-2. PMID 10671636.
• Reichel M, Gillert E, Breitenlohner I, Angermüller S, Fey GH, Marschalek R, Repp R, Greil J, Beck JD (February 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. doi:10.1038/sj.leu.2402018. PMID 11236948.
• Raffini LJ, Slater DJ, Rappaport EF, Lo Nigro L, Cheung NK, Biegel JA, Nowell PC, Lange BJ, Felix CA (April 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". Proceedings of the National Academy of Sciences of the United States of America. 99 (7): 4568–73. Bibcode:2002PNAS...99.4568R. doi:10.1073/pnas.062066799. PMC 123688. PMID 11930009.
• Bertrand FE, Spengeman JD, Shah N, LeBien TW (December 2003). "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. doi:10.1038/sj.leu.2403178. PMID 14562113.
• Caslini C, Serna A, Rossi V, Introna M, Biondi A (June 2004). "Modulation of cell cycle by graded expression of MLL-AF4 fusion oncoprotein". Leukemia. 18 (6): 1064–71. doi:10.1038/sj.leu.2403321. PMID 14990976.
• Bursen A, Moritz S, Gaussmann A, Moritz S, Dingermann T, Marschalek R (August 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. doi:10.1038/sj.onc.1207837. PMID 15221006.
• Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Xia ZB, Popovic R, Chen J, Theisler C, Stuart T, Santillan DA, Erfurth F, Diaz MO, Zeleznik-Le NJ (September 2005). "The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression". Proceedings of the National Academy of Sciences of the United States of America. 102 (39): 14028–33. doi:10.1073/pnas.0506464102. PMC 1236570. PMID 16169901.