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FLASH GENE
Symbol CWC27 contributors: mct - updated : 09-05-2017
HGNC name CWC27 spliceosome-associated protein homolog (S. cerevisiae)
HGNC id 10664
Corresponding disease
RPBCA retinal degeneration, brachydactyly, craniofacial abnormalities
Location 5q12.3      Physical location : 64.064.754 - 64.314.590
Synonym name
  • antigen NY-CO-10
  • serologically defined colon cancer antigen 10
  • PPIase SDCCAG10
  • peptidyl-prolyl cis-trans isomerase SDCCAG10
  • Synonym symbol(s) NY-CO-10, SDCCAG10, SDCCAG-10
    EC.number 5.2.1.8
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    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