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FLASH GENE
Symbol PRPF6 contributors: mct - updated : 18-03-2010
HGNC name PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
HGNC id 15860
Corresponding disease
RP60 retinitis pigmentosa 60
Location 20q13.33      Physical location : 62.612.430 - 62.664.451
Synonym name
  • putative mitochondrial outer membrane protein import receptor
  • U5 snRNP-associated 102 kDa protein
  • androgen receptor N-terminal domain transactivating protein-1
  • PRP6 pre-mRNA processing factor 6 homolog (yeast)
  • chromosome 20 open reading frame 14
  • p102 U5 small nuclear ribonucleoprotein particle-binding protein
  • Synonym symbol(s) TOM, ANT-1, C20orf14, U5-102K, hPrp6, PRP6, bB152O15.1
    DNA
    TYPE functioning gene
    STRUCTURE 52.02 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3120 - 941 - Nishikimi (1999)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinepancreas   highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine HAT repeats
  • HOMOLOGY
    interspecies homolog to yeast S.pombe Prp1p/Zer1p
    homolog to yeast S.cerevisiae Prp6p
    homolog to murine Prpf6 (98.3pc)
    homolog to rattus Prpf6 (98.2pc)
    Homologene
    FAMILY
    CATEGORY RNA associated , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • subunit of the spliceosome involved in cellular transport systems
  • can function as an AR-activation function-1 -specific coactivator while mediating a transcription-splicing coupling
  • involved in pre-mRNA splicing
  • possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS mitochondrial transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TXNL4B
  • ARAF1
  • can bind androgen receptor
  • cell & other
    REGULATION
    Other strucutural integrity of the N-terminus is required to mediate a splicing event, but is not necessary for the assembly of spliceosomes (Lützelberger 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) RP60
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS