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FLASH GENE
Symbol CPNE1 contributors: mct - updated : 17-12-2019
HGNC name copine I
HGNC id 2314
Location 20q11.22      Physical location : 34.213.967 - 34.252.848
Synonym name
  • chromobindin 17
  • Synonym symbol(s) COPN1, CPN1, CNE1, COPINE1, MGC1142
    DNA
    TYPE functioning gene
    STRUCTURE 38.89 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • promoter and 5 prime UTR sharing between CPNE1 and RBM12
  • )
    MAPPING cloned Y linked N status confirmed
    Map cen - D20S106 - CPNE1 - RBL1 - D20S884 - D20S841 - BPI - D20S174 - D20S107 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    text
  • all variants encode the same protein
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 1996 58 537 - 2003 12522145
    16 splicing 1954 58 537 - 2003 12522145
  • using a different splice site which creates a shorter 5' UTR compared to variant 1
  • 16 splicing 2211 58 537 - 2003 12522145
  • using a different exon in its 5' UTR compared to variant 1
  • 17 splicing 2081 58 537 - 2003 12522145
  • using an additional exon in its 5' UTR compared to variant 1
  • 17 splicing 2049 58 537 - 2003 12522145
  • using an additional exon in its 5' UTR compared to variant 1
  • 17 splicing 2097 58 537 - 2003 12522145
  • using an additional exon in its 5' UTR compared to variant 1
  • 18 splicing 2224 58 537 - 2003 12522145
  • uses two additional exons in its 5' UTR compared to variant 1
  • 18 splicing 2192 58 537 - 2003 12522145
  • using two additional exons in its 5' UTR compared to variant 1
  • 16 - 1907 - 536 - 2003 12522145
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon moderately
     mouth   moderately
     stomach   moderately
    Endocrinethyroid   moderately
    Lymphoid/Immunespleen    
     thymus   moderately
     tonsils   predominantly
    Nervousbrain    
    Reproductivefemale systemovary  moderately
     female systemuteruscervix moderately
    Respiratoryrespiratory tracttrachea  highly
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage
    cell lines
    fluid/secretion highly in lymph
    at STAGE
    physiological period fetal, pregnancy
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two Ca(2+)- and phospholipid-binding domains known as 'C2 domains', two tandem C2 domains at the N-terminus
  • one WWFA domain
  • a C terminal region distantly related to the A domain, an A domain at the C&
  • 8209;terminus
    HOMOLOGY
    interspecies homolog to rattus Cpne1 (92.1pc)
    homolog to murine Cpne1 (91.6 pc)
    Homologene
    FAMILY
  • copine family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope
    text
  • secretory vesicle
  • cytosol of neutrophils
  • basic FUNCTION
  • potentially involved in regulating membrane trafficking
  • playing a role in protein-protein interactions
  • CPNE1 plays a key role in the regulation of NSC (neural stem cell) functions through the activation of AKT1-MTOR signaling pathway during brain development
  • CPNE1 plays a vital role in regulating cell differentiation
  • is a highly conserved calcium-dependent phospholipid-binding protein and may function in regulating signal transduction and membrane trafficking
  • CPNE1 is an oncogene in non-small cell lung cancer (NSCLC) and serves an important role in tumorigenesis of NSCLC progression
  • CPNE1 and STC2, were confirmed to be modifiers of in vitro myogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text
  • vesicular transport
  • membrane trafficking
  • PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, other,
  • binding to phosphatidylserine in a calcium-dependent manner
  • protein
  • interacting with RBM12
  • COPS5 appears to directly interact with CPNE1
  • COPS5 activates the neuronal differentiation ability of CPNE1 through the binding of C2A domain in CPNE1 with MPN domain in COPS5
  • CPNE1 binds with various intracellular proteins via its A domain and C domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in glaucomatous trabecular meshwork (TM) cells when compared to normal ones
    tumoral     --over  
    in the osteosarcoma tissues and cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a valuable prognostic marker for evaluating recurrence-free survival and is positively related to TRAF2 expression in prostate cancer
  • Therapy target
    ANIMAL & CELL MODELS