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FLASH GENE
Symbol PRPF4 contributors: npt/mct - updated : 01-12-2015
HGNC name PRP4 pre-mRNA processing factor 4 homolog (yeast)
HGNC id 17349
Corresponding disease
RP70 retinitis pigmentosa 70
Location 9q32      Physical location : 116.037.973 - 116.055.054
Synonym name
  • PRP4/STK/WD splicing factor
  • U4/U6 snRNP 60 kDa protein
  • PRP4 homolog
  • Synonym symbol(s) HPRP4, HPRP4P, PRP4, PRP4P, DT2P1F10, RP70, SNRNP60
    DNA
    TYPE functioning gene
    STRUCTURE 17.08 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389784 9 LOC389784 KIAA1958 9q33.1 KIAA1958 HSPC043 LOC389785 9 similar to RIKEN cDNA 4732481H14 LOC169831 9q33.1 similar to RIKEN cDNA 4732481H14 TSCOT 6p21-p11.2 thymic stromal co-transporter LOC169834 9q33.1 hypothetical protein LOC169834 ZFP37 9q32 zinc finger protein 37 homolog (mouse) SLC31A2 9q31-q32 solute carrier family 31 (copper transporters), member 2 SLC31A1 9q31-q32 solute carrier family 31 (copper transporters), member 1 CDC26 9q32 cell division cycle 26 PRPF4 9q31-q33 PRP4 pre-mRNA processing factor 4 homolog (yeast) MGC4734 9q33.1 hypothetical protein MGC4734 WDR31 9q33.1 WD repeat domain 31 BSPRY 9q33.1 B-box and SPRY domain containing MGC12904 9q33.1 hypothetical protein MGC12904 ALAD 9q33.3 aminolevulinate, delta-, dehydratase POLE3 9q33 polymerase (DNA directed), epsilon 3 (p17 subunit) C9orf43 9q33.1 chromosome 9 open reading frame 43 RGS3 9q31-q33 regulator of G-protein signalling 3 FLJ31713 9q33.1 hypothetical protein FLJ31713 LOC392385 9 similar to programmed cell death 2 isoform 1; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog KIAA1952 9q33.1 KIAA1952 protein AMBP 9q32-q33 alpha-1-microglobulin/bikunin precursor
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2756 58 522 - 2007 17998396
    14 - 2938 - 521 - 2007 17998396
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrinethyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven WD motifs in the C terminal region
  • five or more CAG repeats
  • mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae prp4
    Homologene
    FAMILY
    CATEGORY RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,kinetochore
    basic FUNCTION
  • U4/U6 small nuclear ribonucleoprotein associated splicing factor
  • kinetochore component that is necessary to establish a functional spindle assembly checkpoint
  • PRPF4-mediated phosphorylation of KLF13 plays a role in the regulation of CCL5 expression in T lymphocytes
  • roles in regulating pre-mRNA splicing
  • requirement of enzymatic activity of PRPF4 in regulating cancer cell growth
  • CELLULAR PROCESS nucleotide, transcription, maturation
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the spliceosome
  • INTERACTION
    DNA
    RNA binding to U4 and U6 snRNAs
    small molecule
    protein
  • HPRP3P
  • checkpoint protein required for MAD1L1, and MAD2L1 localization to the kinetochores
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP70
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS