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FLASH GENE
Symbol AFF1 contributors: mct - updated : 21-12-2011
HGNC name AF4/FMR2 family, member 1
HGNC id 7135
Location 4q22.1      Physical location : 87.856.153 - 88.062.205
Synonym name
  • AF-4 nuclear protein
  • myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2
  • pre-B-cell monocytic leukemia partner 1
  • protein AF-4
  • proto-oncogene AF4
  • ALL1-fused gene from chromosome 4 protein
  • protein FEL
  • Synonym symbol(s) AF4, FEL, LTG4, MLLT2, PBM1, MGC134969
    DNA
    TYPE functioning gene
    STRUCTURE 206.05 kb     21 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 9285 - 1218 - 1998 9808577
    20 - 9378 - 1210 - 1998 9808577
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node     Homo sapiens
    Nervousbrain    
    Reproductivefemale systemplacenta   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    Lymphoid/Immunelymphocyte Homo sapiens
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period fetal, pregnancy
    Text highly in placenta and fetal brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal homology domain is a region of homology shared by the four AFF members
  • proline and serine-rich domains
  • C-terminus (containing the NLSII/NoLS sequence) co-localizes with fibrillarin in the nucleolus
  • HOMOLOGY
    intraspecies homolog to FMR2 ,LAF4,highly
    Homologene
    FAMILY
  • AF4 family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • DNA-binding capacity and transcription transactivation potential
  • potential role for AFF1/AF4 in lymphopoiesis
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MLL in MLL/AFF1 fusion gene (regulating CDKN1B)
  • interact with the positive transcription elongation factor b (CCNT1)
  • FLT3-mediated inhibition of hematopoiesis in KMT2A-AFF1-expressing hESCs, which is associated with large transcriptional changes and downregulation of genes involved in hematopoietic system development and function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fusion partner with MLL in a patient affected by acute lymphoblastic leukemia
    Susceptibility to systemic lupus eyrthematosus (SLE)
    Variant & Polymorphism other
  • association of a variant in AFF1 at 4q21 with SLE susceptibility systemic lupus eyrthematosus
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    point mutation in Aff1/Af4 causes a dominant form of cerebellar ataxia in mouse