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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
DNA
TYPE functioning gene
STRUCTURE 13.70 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D8S1751 - D8S1406E - PUF60 - D8S1577E - D8S595 - qter
RNA
TRANSCRIPTS type messenger
text multiple polyadenylation sites
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 splicing 1946 59.74 559 - 2017 28471317
11 splicing 1853 58.2 542 - 2017 28471317
same reading frame than variant NM_078480
12 - 1874 55.6 516 - 2017 28471317
10 - 1810 - 513 - 2017 28471317
11 - 1861 - 530 - 2017 28471317
11 - 1894 - 541 - 2017 28471317
12 - 1945 - 558 - 2017 28471317
11 - 1916 - 499 - 2017 28471317
13 - 2119 - 596 - 2017 28471317
13 - 2282 - 596 - 2017 28471317
12 - 2068 - 579 - 2017 28471317
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemovary  highly
 male systemtestis  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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