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

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encoded by the AFF1 gene.[5][6][7][8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172493 - Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  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 (inactive 31 January 2024). PMID 8353274.((cite journal)): CS1 maint: DOI inactive as of January 2024 (link)
  8. ^ a b "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.

External links

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