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{{ | '''AF4/FMR2 family member 1''' is a [[protein]] that in [[human]]s is encoded by the ''AFF1'' [[gene]].<ref name="pmid7689231">{{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 = Proc Natl Acad Sci U S A | volume = 90 | issue = 16 | pages = 7884–8 |date=Sep 1993 | pmid = 7689231 | pmc = 47247 | doi =10.1073/pnas.90.16.7884 }}</ref><ref name="pmid1423625">{{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=Dec 1992 | pmid = 1423625 | pmc = | doi =10.1016/0092-8674(92)90603-A }}</ref><ref name="pmid8353274">{{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=Sep 1993 | pmid = 8353274 | pmc = | doi = }}</ref><ref name="entrez">{{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| accessdate = }}</ref> | ||
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| section_title = | | section_title = | ||
| summary_text = DISCONTINUED: The record for PBM1 has been withdrawn by HGNC.<ref name="entrez" | | summary_text = DISCONTINUED: The record for PBM1 has been withdrawn by [[HGNC]].<ref name="entrez" /> | ||
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==References== | ==References== | ||
{{reflist| | {{reflist}} | ||
==External links== | |||
* {{UCSC gene info|AFF1}} | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal | vauthors=Morrissey J, Tkachuk DC, Milatovich A |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 |year= 1993 |pmid= 8443374 |doi= |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Nakamura T, Alder H, Gu Y |title=Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 10 |pages= 4631–5 |year= 1993 |pmid= 8506309 |doi=10.1073/pnas.90.10.4631 | pmc=46566 |display-authors=etal}} | ||
*{{cite journal | | *{{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 Cell Biol. |volume=15 |issue= 8 |pages= 669–78 |year= 1996 |pmid= 8769569 |doi=10.1089/dna.1996.15.669 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Nilson I, Reichel M, Ennas MG |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=Br. J. Haematol. |volume=98 |issue= 1 |pages= 157–69 |year= 1997 |pmid= 9233580 |doi=10.1046/j.1365-2141.1997.1522966.x |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Megonigal MD, Rappaport EF, Jones DH |title=Panhandle PCR strategy to amplify MLL genomic breakpoints in treatment-related leukemias. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 21 |pages= 11583–8 |year= 1997 |pmid= 9326653 |doi=10.1073/pnas.94.21.11583 | pmc=23546 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Felix CA, Kim CS, Megonigal MD |title=Panhandle polymerase chain reaction amplifies MLL genomic translocation breakpoint involving unknown partner gene. |journal=Blood |volume=90 |issue= 12 |pages= 4679–86 |year= 1997 |pmid= 9389682 |doi= |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Isnard P, Depetris D, Mattei MG |title=cDNA cloning, expression and chromosomal localization of the murine AF-4 gene involved in human leukemia. |journal=Mamm. Genome |volume=9 |issue= 12 |pages= 1065–8 |year= 1999 |pmid= 9880680 |doi=10.1007/s003359900927 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Felix CA, Hosler MR, Slater DJ |title=Duplicated regions of AF-4 intron 4 at t(4;11) translocation breakpoints. |journal=Mol. Diagn. |volume=4 |issue= 4 |pages= 269–83 |year= 2000 |pmid= 10671636 |doi= 10.1016/S1084-8592(99)80002-2|display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Reichel M, Gillert E, Breitenlohner I |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 |year= 2001 |pmid= 11236948 |doi=10.1038/sj.leu.2402018 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Raffini LJ, Slater DJ, Rappaport EF |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=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 7 |pages= 4568–73 |year= 2002 |pmid= 11930009 |doi= 10.1073/pnas.062066799 | pmc=123688 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}} | ||
*{{cite journal | | *{{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 |year= 2004 |pmid= 14562113 |doi= 10.1038/sj.leu.2403178 }} | ||
*{{cite journal | | *{{cite journal | vauthors=Caslini C, Serna A, Rossi V |title=Modulation of cell cycle by graded expression of MLL-AF4 fusion oncoprotein. |journal=Leukemia |volume=18 |issue= 6 |pages= 1064–71 |year= 2004 |pmid= 14990976 |doi= 10.1038/sj.leu.2403321 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Bursen A, Moritz S, Gaussmann A |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 |year= 2004 |pmid= 15221006 |doi= 10.1038/sj.onc.1207837 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Colland F, Jacq X, Trouplin V |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Beausoleil SA, Jedrychowski M, Schwartz D |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130–5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 | pmc=514446 |display-authors=etal}} | ||
*{{cite journal | | *{{cite journal | vauthors=Xia ZB, Popovic R, Chen J |title=The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 39 |pages= 14028–33 |year= 2005 |pmid= 16169901 |doi= 10.1073/pnas.0506464102 | pmc=1236570 |display-authors=etal}} | ||
}} | }} | ||
{{refend}} | {{refend}} | ||
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Latest revision as of 17:52, 29 August 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (mRNA) |
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RefSeq (protein) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
Wikidata | |||||||
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AF4/FMR2 family member 1 is a protein that in humans is encoded by the AFF1 gene.[1][2][3][4]
DISCONTINUED: The record for PBM1 has been withdrawn by HGNC.[4]
References
- ↑ Domer PH, Fakharzadeh SS, Chen CS, Jockel J, Johansen L, Silverman GA, Kersey JH, Korsmeyer SJ (Sep 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. 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 (Dec 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.
- ↑ Chen CS, Hilden JM, Frestedt J, Domer PH, Moore R, Korsmeyer SJ, Kersey JH (Sep 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.
- ↑ 4.0 4.1 "Entrez Gene: AFF1 AF4/FMR2 family, member 1".
External links
- Human AFF1 genome location and AFF1 gene details page in the UCSC Genome Browser.
Further reading
- 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. doi:10.1073/pnas.90.10.4631. PMC 46566. 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. doi:10.1089/dna.1996.15.669. 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. doi:10.1046/j.1365-2141.1997.1522966.x. 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. doi:10.1073/pnas.94.21.11583. PMC 23546. 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. doi:10.1007/s003359900927. 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. doi:10.1016/S1084-8592(99)80002-2. PMID 10671636.
- 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. doi:10.1038/sj.leu.2402018. 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. doi:10.1073/pnas.062066799. PMC 123688. PMID 11930009.
- 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- 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. doi:10.1038/sj.leu.2403178. PMID 14562113.
- 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. doi:10.1038/sj.leu.2403321. PMID 14990976.
- 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. doi:10.1038/sj.onc.1207837. PMID 15221006.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- 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. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- 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. doi:10.1073/pnas.0506464102. PMC 1236570. PMID 16169901.
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