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FLASH GENE
Symbol PRPF8 contributors: mct - updated : 09-02-2016
HGNC name PRP8 pre-mRNA processing factor 8 homolog (yeast)
HGNC id 17340
DNA
TYPE functioning gene
STRUCTURE 34.25 kb     43 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map pter - D17S849 - [D17S1529 - D17S831 ] - D17S5 - D17S379 - D17S1584 - D17S1810 - D17S796 - D17S938 - D17S1363 - D17S786 - D17S945 - D17S954 - cen
Text [PRP8 ]
Physical map
MRPL14P1 17p13.3 hypothetical protein FLJ10534 LOC390753 17 similar to putative protein LOC390754 17 similar to hypothetical class II basic helix-loop-helix protein LOST1 17p13.3 located at seventeen-p-thirteen point three 1 YWHAE 17p13.3 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide CRK 17p13.3 v-crk sarcoma virus CT10 oncogene homolog (avian) MYO1C 17p13.3-p13.2 myosin IC SKIP 17p13 myosin IC PITPN 17p13.3 phosphotidylinositol transfer protein MGC34680 17p13.3 hypothetical protein MGC34680 RILP 17p13.3 hypothetical protein MGC34680 SCARF1 17p13.3 scavenger receptor class F, member 1 PRPF8 17p13.3 PRP8 pre-mRNA processing factor 8 homolog (yeast) LOC388317 17 LOC388317 MGC14376 17p13.3 hypothetical protein MGC14376 LOC388318 17 LOC388318 FLJ33817 17p13.3 hypothetical protein FLJ33817 SERPINF2 17p13 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 SERPINF1 17p13.3 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 KIAA1936 17p13.3 KIAA1936 protein RPA1 17p13.3 replication protein A1, 70kDa NGRH2 LOC388319 17 LOC388319 DPH2L1 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) OVCA2 17p13.3 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae) HIC1 17p13.3 hypermethylated in cancer 1 C17orf31 17p13.3 chromosome 17 open reading frame 31 SRR 17q13.3 serine racemase LOC388320 17 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ10534 17p13.3 hypothetical protein FLJ10534 KIAA0397 17p13.3 hypothetical protein FLJ10534
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 1320 - 437 - 2007 17317632
ARP2 is a fragment of protein Psp8 having a new function in apoptosis related phenomena
43 - 7311 - 2335 - 2007 17317632
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouth   highly
Reproductivefemale systemuteruscervix highly
 female systembreastmammary gland highly
Respiratoryrespiratory tractlarynx  highly
Visualeyeretina  highly Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a central RNA recognition motif (RRM)
  • several WD repeats, functioning in protein-protein interactions
  • a core domain IV, implicated in key spliceosomal interactions, with a bipartite structure that includes the presence of an RNase H fold linked to a five-helix assembly
  • C-terminal Jab1/MPN domain (Ritchie 2008)
  • mono polymer complex
    HOMOLOGY
    interspecies ortholog to S. cerevisiae prp8p
    ortholog to rattus Prpf8 predicted
    ortholog to murine Prpf8
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text perinuclear region of photor(eceptors
    basic FUNCTION
  • playing an essential role for the catalytic step II in pre-mRNA splicing process
  • employs potentially an RNase H domain to help assemble and stabilize the spliceosomal catalytic core, coordinate the activities of other splicing factors and possibly participate in chemical catalysis of splicing
  • pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • core component of the U5 snRNP
  • component of both U2- and U12-dependent spliceosomes
  • with PRPF31 and PRPF3, are component of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs
  • pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome
  • INTERACTION
    DNA
    RNA binding to U4/U6 RNA
    small molecule
    protein
  • during step 1 of splicing, PRPF8 interactions with SF3b proteins are replaced by SLU7, positioning this second step factor close to the active site, and that the DEAH-box helicases DHX16 and DHX38 cooperate through ordered interactions with GPKOW (PMIDl:
  • PRPF8 protein, a major regulator of the spliceosome, can insert its C-terminal tail into SNRNP200 RNA-binding tunnel, thereby intermittently blocking SNRNP200 RNA-binding, adenosine triphosphatase, and U4/U6 unwinding activities
  • SLU7 and PRPF18, which promote exon ligation, bind together to the PRPF8 RNase H-like domain
  • SLU7 adopts an extended conformation, binds PRPF8 and CWC22, and is poised for selection of the 3'-splice site
  • PRPF8 plays a key role in positioning the 5'splice sites (SSs) and 3'SS, facilitated by SLU7 through interactions with PRPF8 and substrate RNA to advance exon ligation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS