AFF1

Protein-coding gene in the species Homo sapiens

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]
Band	4q21.3-q22.1	End	87,141,039 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5 E5\|5 50.45 cM	Start	103,840,240 bp^[2]
Band	5 E5\|5 50.45 cM	End	104,003,188 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

renal medulla

retinal pigment epithelium

trabecular bone

seminal vesicula

caput epididymis

germinal epithelium

vastus lateralis muscle

superficial temporal artery

deltoid muscle

parietal pleura

Top expressed in

lacrimal gland

ciliary body

cumulus cell

retinal pigment epithelium

iris

Paneth cell

blood

right lung

parotid gland

stria vascularis

More reference expression data

BioGPS

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

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: 103.84 – 104 Mb

PubMed search

^[3]

^[4]

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by the AFF1 gene.^[5]^[6]^[7]^[8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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 (inactive 31 January 2024). PMID 8353274.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
^ ^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. S2CID 42706811.
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. S2CID 10639425.
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. S2CID 19189264.
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.