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{{Infobox_gene}}
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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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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = AF4/FMR2 family, member 1
| HGNCid = 7135
| Symbol = AFF1
| AltSymbols =; AF-4; AF4; AF4-MLL; MGC134969; MLL/AF4; MLLT2; PBM1
| OMIM = 159557
| ECnumber =
| Homologene = 4340
| MGIid = 1100819
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}}  
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process =  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4299
    | Hs_Ensembl =
    | Hs_RefseqProtein = NP_005926
    | Hs_RefseqmRNA = NM_005935
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr =   
    | Hs_GenLoc_start =
    | Hs_GenLoc_end =
    | Hs_Uniprot =
    | Mm_EntrezGene = 17355
    | Mm_Ensembl = ENSMUSG00000029313
    | Mm_RefseqmRNA = NM_001080798
    | Mm_RefseqProtein = NP_001074267
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 104023409
    | Mm_GenLoc_end = 104091125
    | Mm_Uniprot = O35233
  }}
}}
'''AF4/FMR2 family, member 1''', also known as '''AFF1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: AFF1 AF4/FMR2 family, member 1| url = http://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">{{cite web | title = Entrez Gene: AFF1 AF4/FMR2 family, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4299| accessdate = }}</ref>
| summary_text = DISCONTINUED: The record for PBM1 has been withdrawn by [[HGNC]].<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{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  | author=Gu Y, Nakamura T, Alder H, ''et al.'' |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 |year= 1992 |pmid= 1423625 |doi=  }}
*{{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  | author=Domer PH, Fakharzadeh SS, Chen CS, ''et al.'' |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 |year= 1993 |pmid= 7689231 |doi=  }}
*{{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  | author=Chen CS, Hilden JM, Frestedt J, ''et al.'' |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 |year= 1993 |pmid= 8353274 |doi=  }}
*{{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  | author=Morrissey J, Tkachuk DC, Milatovich A, ''et al.'' |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=  }}
*{{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  | author=Nakamura T, Alder H, Gu Y, ''et al.'' |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=  }}
*{{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  | author=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=  }}
*{{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  | author=Nilson I, Reichel M, Ennas MG, ''et al.'' |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=  }}
*{{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  | author=Megonigal MD, Rappaport EF, Jones DH, ''et al.'' |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= }}
*{{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  | author=Felix CA, Kim CS, Megonigal MD, ''et al.'' |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= }}
*{{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  | author=Isnard P, Depetris D, Mattei MG, ''et al.'' |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=  }}
*{{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  | author=Felix CA, Hosler MR, Slater DJ, ''et al.'' |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= 10.154/MODI00400269 }}
*{{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  | author=Reichel M, Gillert E, Breitenlohner I, ''et al.'' |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= }}
*{{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  | author=Raffini LJ, Slater DJ, Rappaport EF, ''et al.'' |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 }}
*{{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  | author=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  | 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  | author=Caslini C, Serna A, Rossi V, ''et al.'' |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 }}
*{{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  | author=Bursen A, Moritz S, Gaussmann A, ''et al.'' |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 }}
*{{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}}
*{{cite journal | author=Colland F, Jacq X, Trouplin V, ''et al.'' |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 }}
*{{cite journal  | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |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 }}
*{{cite journal  | author=Xia ZB, Popovic R, Chen J, ''et al.'' |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 }}
}}
}}
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Latest revision as of 17:52, 29 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. 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.
  2. 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.
  3. 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. 4.0 4.1 "Entrez Gene: AFF1 AF4/FMR2 family, member 1".

External links

Further reading