AFF1

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; OMA:AFF1 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	87,141,039 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	104,003,188 bp
RNA expression pattern
	Top expressed in
	Epithelium of choroid plexus; ; renal medulla; ; skin of hip; ; retinal pigment epithelium; ; tail of epididymis; ; trabecular bone; ; Skeletal muscle tissue of biceps brachii; ; seminal vesicula; ; caput epididymis; ; glutes;
	Top expressed in
	lacrimal gland; ; ciliary body; ; cumulus cell; ; retinal pigment epithelium; ; gastrula; ; vestibular membrane of cochlear duct; ; iris; ; Paneth cell; ; lobe of prostate; ; decidua;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA-binding transcription factor activity; protein binding; double-stranded DNA binding;
Cellular component	nucleus; transcription elongation factor complex; super elongation complex;
Biological process	regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	4299
	17355
	ENSG00000172493
	ENSMUSG00000029313
	P51825
	O88573
	NM_001313959; NM_001313960; NM_001166693; NM_005935
	NM_001080798; NM_133919
	NP_001160165; NP_001300888; NP_001300889; NP_005926
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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by the AFF1 gene.^[5]^[6]^[7]^[8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000172493 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029313 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b 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.
^ 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. S2CID 6257922.
^ 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. doi:10.1182/blood.V82.4.1080.bloodjournal8241080. PMID 8353274.
^ ^a ^b "Entrez Gene: AFF1 AF4/FMR2 family, member 1".
^ 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.

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. doi:10.1182/blood.V81.5.1124.1124. 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. S2CID 25176760.
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. doi:10.1182/blood.V90.12.4679. 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. S2CID 29956410.
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. S2CID 9645787.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000172493 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid7689231-5] 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.

[pmid1423625-6] 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. S2CID 6257922.

[pmid8353274-7] 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. doi:10.1182/blood.V82.4.1080.bloodjournal8241080. PMID 8353274.

[entrez-8] "Entrez Gene: AFF1 AF4/FMR2 family, member 1".

[Melko2011-9] 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.

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References

External links

Further reading