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FLASH GENE
Symbol PPIE contributors: mct - updated : 21/10/2008
HGNC name peptidylprolyl isomerase E (cyclophilin E)
HGNC id 9258
Location 1p34.2      Physical location : 40.204.516 - 40.229.585
Synonym name
  • cyclophilin E
  • PPIase E
  • rotamase E
    • Synonym symbol(s) CYP33, CYP-33, MGC3736, MGC111222
    EC.number 5.2.1.8
    DNA
    TYPE functioning gene
    STRUCTURE 25.07 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see CLN1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 4392 33.3 301 - 1998 9747881
    10 splicing 1136 33 296 - 1998 9747881
  • using an alternate exon at the 3' end of the coding region compared to variant 1
    • 11 splicing 1271 - 314 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
     salivary gland   predominantly
    Lymphoid/Immunetonsils   highly
    Nervousbrain    
    Reproductivefemale systemovary  moderately
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an RNA recognition motif (RRM) domain, interacting with PHD3 domain of MLL
  • C-terminal cyclophilin domain that has peptidyl-proline isomerase (PPIase) activity
    • conjugated HemoP
    mono polymer monomer , complex
    HOMOLOGY
    interspecies homolog to rattus Ppie (97.7 pc)
    homolog to murine Ppie (98.3 pc)
    Homologene
    FAMILY
  • cyclophilin-type PPIase (peptidyl-prolyl cis-trans isomerase) family
  • PPIase E subfamily
  • immunophilin class M family
    • CATEGORY chaperone/stress , enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    text spliceosome
    basic FUNCTION
  • accelerating the folding of proteins by catalyzing the cis-trans isomerization of proline imidic peptide bonds in oligopeptides
  • may be involved in muscle- and brain-specific processes
  • may be involved in pre-mRNA splicing
  • negatively regulates the function of MLL
    • CELLULAR PROCESS nucleotide, transcription, regulation
    nucleotide, RNA splicing
    protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • identified in the spliceosome C complex
    • INTERACTION
    DNA
    RNA binding to poly(A)(+)RNA
    small molecule cofactor, nucleotide,
    NADPH
    protein
  • flavoprotein P450 oxidoreductase (POR)
  • binding to cyclosporin A
  • mediates downregulation of the expression of MLL target genes HOXC8, HOXA9, CDKN1B, and C-MYC, in a proline isomerase-dependent manner
    • cell & other
    REGULATION
    Other binding specifically to mRNA, namely poly(A)(+)RNA which stimulates its PPIase activity
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    amplified with MYCL1 in small cell lung cancer lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS