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FLASH GENE
Symbol AFF4 contributors: mct - updated : 21-12-2015
HGNC name AF4/FMR2 family, member 4
HGNC id 17869
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Lymphoid/Immunespleen    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal homology domain is a region of homology shared by the four AFF members , and intrinsically disordered N-terminal region that interacts with other super-elongation complex subunits
  • seven nuclear localization sequences (NLS)
  • and a C-terminal homology domain (CHD) that is conserved among AF4/FMR2 family proteins, and AFF4-CHD mediates the formation of an AFF4 homodimer or an AFF1-AFF4 heterodimer
  • HOMOLOGY
    intraspecies homolog to AF-4 protein
    Homologene
    FAMILY AF4/FMR2 family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • localize to nuclear speckles
  • basic FUNCTION
  • transcription from RNA polymerase II promoter
  • involved in acute lymphoblastic leukemia
  • able to bind RNA, having a high apparent affinity for the G-quadruplex structure
  • possible functional redundancy among the AFF family members in the regulation of splicing and transcription
  • functional redundancy for AFF2/AFF3/AFF4 proteins during brain development
  • both AFF1 and AFF4 regulate gene transcription through elongation and chromatin remodeling
  • AFF1 and AFF4 differentially regulate the osteogenic differentiation of human MSCs
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • AFF4-CHD mediates the formation of an AFF4 homodimer or an AFF1-AFF4 heterodimer
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with the positive transcription elongation factor b (CCNT1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    between the Mixed Lineage Leukemia (MLL) and AF4 Family (AFF) member genes, are implicated in leukemia
    constitutional     --other  
    ectopic expression, repressed HIV-1 LTR-directed RNA Polymerase II transcription, at the level of Tat-transactivation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Aff4/Af5q31-null mice display azoospermia as their only phenotype, demonstrating the essential role of this protein in Sertoli cells