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FLASH GENE
Symbol PUF60 contributors: mct - updated : 19-06-2018
HGNC name poly-U binding splicing factor 60KDa
HGNC id 17042
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal activator-selective repression domain, that binds to TFIIH and suppresses its p89/3prime-5prime helicase activity
  • three RNA recognition motifs (RRM)
  • C-terminal domain belonging to the family of U2AF (U2 auxiliary factor) homology motifs (UHM), a subgroup of RNA recognition motifs that bind to tryptophan-containing linear peptide motifs (UHM is mainly monomeric in physiological buffer but it can dimerize)
  • HOMOLOGY
    interspecies homolog to rattus Siahbp1
    ortholog to murine 2410104I19Rik
    intraspecies homolog to U2AF2
    Homologene
    FAMILY
  • RRM half pint family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • repressing a c-myc reporter via the FUSE
  • targeting transcription factor IIH (only the p89 helicase)
  • inhibiting activated transcription
  • using TFIIH to delay promoter escape
  • poly-U RNA-binding protein required to reconstitute splicing in depleted nuclear extracts
  • playing a role in alternative splicing, and also controls MYC gene expression
  • also possesses pre-mRNA splicing activity
  • nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription
  • is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts
  • CELLULAR PROCESS nucleotide, transcription, regulation
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a ternary complex with far upstream element (FUSE) and FUSE-binding protein (FBP)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to Ro RNPs
  • interacting with U2A2 (mutually enhance their affinity for binding polypyrimidine tract RNA in a cooperative fashion)
  • binds to FUSE, as well as to the central domain of FUBP1, and forms a stable tripartite FUSE-FUBP1-PUF60 complex, which represses activated but not basal MYC transcription after transcription initiation by delaying promoter escape
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL8Q24.3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    in xeroderma pigmentosum disorder (XPB, XPD)
    Susceptibility to dermatomyositis and Sjögren syndrome
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS