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FLASH GENE
Symbol PRPF40A contributors: mct - updated : 15-04-2010
HGNC name PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
HGNC id 16463
Location 2q23.3      Physical location : 153.508.108 - 153.573.975
Synonym name
  • PRP40 pre-mRNA processing factor 40 homolog A (yeast)
  • Fas-ligand associated factor 1
  • NY-REN-6 antigen
  • formin binding protein 3
  • ortholog of mouse formin binding protein 3
  • huntingtin-interacting protein A
  • huntingtin-interacting protein HYPA
    • Synonym symbol(s) FBP11, HYPA, NY-REN-6, FLAF1, HIP10, FBP-11, FLJ20585, FNBP3, HSPC225, Prp40
    DNA
    TYPE functioning gene
    STRUCTURE 65.87 kb     26 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 7528 - 930 - Faber (1998)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal PGM (proline, glycine, methionine) rich region
  • tandem WW motifs
  • three FF domains (a 60 amino acid residue phosphopeptide-binding module), composed of three alpha helices arranged in an orthogonal bundle with a 3(10) helix in the loop between the second and third alpha helices
  • two bipartite nuclear localization signals, FB3HM and FB3HC domains
    • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Prpf40a (96.7pc)
    homolog to rattus Prpf40a (96.9pc)
    Homologene
    FAMILY
  • PRPF40 family
    • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • involved in spliceosome function
  • pre-mRNA splicing protein
  • regulating localization of WASL, thus negatively regulating the function of WASL in the cytoplasm
    • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component the first WW domain of FBP11/HYPA (FBP11 WW1) is essential for preventing severe neurological diseases such as Huntington disease and Rett syndrome (Kato 2006)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • huntingtin, N terminal proline rich segment, enhanced by lengthening the adjacent glutamine tract
  • WASL(colocalization with WASL)
  • interacting with the phosphorylated carboxyterminal domain of POLR2A
  • interacting with SF1, SRPK1 CARD8, ATBF1 and MECP2
  • associating with AKAP8L in brain (Sayer 2005)
  • interacting with AKAP8L (AKAP8L/PRPF40A scaffold is a potential nuclear docking site for huntingtin protein and may contribute to the nuclear accumulation of huntingtin observed in Huntington disease)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS