Gene content    
AFF4 ( by HUGO)
AF4/FMR2 Family, Member 4
Other
AF4/FMR2 Family
Member 4
AF5Q31
Major CDK9 Elongation Factor-Associated Protein
MCEF
ALL1-Fused Gene From Chromosome 5q31 Protein
ALL1 Fused Gene From 5q31
AF4/FMR2 Family Member 4
Protein AF-5q31
NCBI: 5q31    Ensembl: 5q31.1
AFF4_HUMANSize: 1163 amino acidsMass: 127459 Da

  • Subunit: Interacts with ELL3; the interaction is direct (By similarity). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation. Component of the super elongation complex (SEC), at least composed of EAF1, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL Developmental stage: Expressed in fetal heart, lung, brain and to a lower extent liver Sequence caution: Sequence=AAI00288.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92784.1; Type=Erroneous initiation; 1 PDB 3D structure from [IMAGE] and Proteopedia [IMAGE] for AFF4: 4IMY (3D) [IMAGE]
  • Tissue specificity: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain [IMAGE] Custom PCR Arrays for AFF4 Primer Products: [IMAGE] OriGene qSTAR qPCR primer pairs in human, mouse for AFF4 [IMAGE] Pre-valida
  • Function:
    UniProtKB/Swiss-Prot Summary: AFF4_HUMAN, Q9UHB7 Function: Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression Gene Ontology (GO): 2 molecular function terms: About this table GO ID Qualified GO term Evidence PubMed IDs GO:0003700 sequence-specific DNA binding transcription factor activity TAS 10588740 GO:0005515 protein binding IPI -- [IMAGE] Find genes that share ontologies with AFF4 About GenesLikeMe Phenotypes:
  • Similarity:
    Belongs to the AF4 family [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR007797TF_AF4/FMR2AF-4 proto-oncoproteinFamily
    BlocksIPB007797AF-4 proto-oncoproteinAF-4 proto-oncoprotein

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process transcription from RNA polymerase II promoter TAS GOA 10588740
    Molecular Function sequence-specific DNA binding transcription factor activity TAS GOA 10588740

    Disorder & Mutation    
    Source Disease
    SWISS-PROTNote=A chromosomal aberration involving AFF4 is found in acute lymphoblastic leukemia (ALL). Insertion ins(5;11)(q31;q13q23) that forms a KMT2A/MLL1-AFF4 fusion protein

    AFF4 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene