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FLASH GENE
Symbol CWC27 contributors: mct - updated : 09-05-2019
HGNC name CWC27 spliceosome-associated protein homolog (S. cerevisiae)
HGNC id 10664
DNA
TYPE functioning gene
STRUCTURE 249.85 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2093 - 472 - 2014 25478830
11 - 2160 - 381 - 2014 25478830
13 - 1999 - 391 - 2014 25478830
11 - 2975 - 333 - 2014 25478830
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestine   
cell lineage
cell lines various cancer
fluid/secretion serum
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal proline binding region is likely critical for CWC27 function
  • C-terminal coiled-coil domain is perhaps less essential, and its disruption leads to milder splicing defects not tolerated primarily in the retina
  • HOMOLOGY
    Homologene
    FAMILY
  • cyclophilin-type PPIase family
  • CATEGORY enzyme , antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • spliceosomal cyclophilin-type peptidyl-prolyl cis-trans isomerase (PPIase)
  • role for CWC27 both during early development and in the maintenance of mature tissues and highlights the complexity of spliceosome function
  • CWC27 functions as a splicing factor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • splicing factor CWC22 is the major CWC27 partner
  • CWC27 functions as a splicing factor, interacting with CWC22 to form a landing platform for EIF4A3, a core component of the exon junction complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RPBCA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cwc27 KO mice show relatively late embryonic lethality with a few surviving postnatal mutants