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FLASH GENE
Symbol U2AF1 contributors: mct/npt/pgu - updated : 26-11-2013
HGNC name U2 small nuclear RNA auxiliary factor 1
HGNC id 12453
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SR domain interrupted by a glycine stretch, RNA recognition motif
  • N-terminal domain containing two zinc fingers identical to U2Af1L4, as well as a non-canonical RRM
  • C-terminal domain containing an RS domain interrupted by a glycine stretch
  • HOMOLOGY
    Homologene
    FAMILY
  • SR family of splicing factors
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text distributed throughout the nucleoplasm, where transcription occurs, with additional concentration in nuclear speckles, where splicing factors accumulate when not engaged in splicing
    basic FUNCTION
  • playing a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3' splice site selection
  • playing a role in the recruitment of U2AF2 by serine-arginine-rich (SR) proteins in enhancer-dependent splicing
  • rather than being required for splicing of all pre-mRNA substrates containing a weak polypyrimidine tract, regulates the selection of weak 3prime splice sites in a specific subset of cellular transcripts
  • small (35 kDa) subunit of the U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) that is involved in pre-mRNA processing (splicing)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizing with U2AF2 to form the essential splicing factor U2AF (U2 auxiliary factor)
  • U2 snRNP auxiliary factor (U2AF) is an essential splicing factor composed of two subunits, a large, 65-kDa subunit (U2AF(65)) and a small subunit, U2AF(35)
  • SF1 and U2AF form extraspliceosomal complexes before and after taking part in the assembly of catalytic spliceosomes
  • INTERACTION
    DNA
    RNA RNA binding
    small molecule
    protein
  • interacting with ZRANB2
  • interacting with SMNDC1
  • ZRSR2 physically interacts with U2AF2, as well as SRSF1 and SRSF2, with a distinct function from its homologue, U2AF1
  • CIR1 interact with U2AF1 through the BA domain, with SRSF2 and SF2/ASF through the RS domain, and with RP9 outside the BA domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in myelodysplasia , mutations playing a significant role in myeloid leukemogenesis due to selective missplicing of tumor-associated genes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS