AFF1

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; OMA:AFF1 - orthologs
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
Wikidata
View/Edit HumanView/Edit Mouse

AF4/FMR2 family member 1 is a protein that in humans is encoded by the AFF1 gene. At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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).

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. 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.