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encoded by the AFF1 gene.^[5][6][7][8] At its same location was a record for a separate PBM1 gene, which has since been withdrawn and considered an alias.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 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; OMA:AFF1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q21.3-q22.1 Start 86,935,002 bp[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] End 104,003,188 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus renal medulla skin of hip retinal pigment epithelium tail of epididymis trabecular bone Skeletal muscle tissue of biceps brachii seminal vesicula caput epididymis glutes Top expressed in lacrimal gland ciliary body cumulus cell retinal pigment epithelium gastrula vestibular membrane of cochlear duct iris Paneth cell lobe of prostate decidua 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
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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]