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encoded by the AFF1 gene.[5][6][7][8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAFF1, AF4, MLLT2, PBM1, AF4/FMR2 family member 1
External IDsOMIM: 159557 MGI: 1100819 HomoloGene: 4340 GeneCards: AFF1
Orthologs
SpeciesHumanMouse
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 MbChr 5: 103.84 – 104 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. S2CID 6257922.
  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.
  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.

Further reading


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