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FLASH GENE
Symbol CPNE1 contributors: mct - updated : 09-03-2011
HGNC name copine I
HGNC id 2314
Location 20q11.22      Physical location : 34.213.967 - 34.252.848
Synonym symbol(s) COPN1, CPN1, CNE1, COPINE1
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 primeUTR 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)
    Physical map
    TRPC4AP 20q11.23 transient receptor potential cation channel, subfamily C, member 4 associated protein C20orf31 20q11.23 chromosome 20 open reading frame 31 PROCR 20q11.21 protein C receptor, endothelial (EPCR) MMP24 20q11.2 matrix metalloproteinase 24 (membrane-inserted) ITGB4BP 20q11.2 integrin beta 4 binding protein C20orf128 20q11.21 chromosome 20 open reading frame 128 C20orf44 20q11.23 chromosome 20 open reading frame 44 GDF5 20q11.2 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1) CEP2 20pter-q12 centrosomal protein 2 LOC343705 20q11.23 similar to beta-galactoside alpha-2,3-sialyltransferase C20orf173 20q11.22 chromosome 20 open reading frame 173 SDBCAG84 20pter-q12 serologically defined breast cancer antigen 84 FER1L4 20q11.21 fer-1-like 4 (C. elegans) RPL37P1 11q13 ribosomal protein L37 pseudogene 1 LOC375095 20q11.23 similar to dJ309K20.1.1 (novel protein similar to dysferlin, isoform 1) SPAG4 20q11.2 sperm associated antigen 4 CPNE1 20q11.21 copine I RBM12 20q11.21 RNA binding motif protein 12 NFS1 20q11-q12 NFS1 nitrogen fixation 1 (S. cerevisiae) C20orf52 20q11.23 chromosome 20 open reading frame 52 RNPC2 20q11.21 RNA-binding region (RNP1, RRM) containing 2 C20orf53 20 chromosome 20 open reading frame 53 C20orf104 20q11.22-q11.23 chromosome 20 open reading frame 104 SCAND1 20q11.1-q11.23 SCAN domain containing 1 C20orf152 20q11.23 chromosome 20 open reading frame 152 HMG4L2 20q11.23 high-mobility group (nonhistone chromosomal) protein 4-like 2 EPB41L1 20q11.2-q12 erythrocyte membrane protein band 4.1-like 1
    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
  • - - 1977 - 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'
  • a C terminal region distantly related to the A domain
  • one WWFA domain
  • HOMOLOGY
    interspecies homolog to rattus Cpne1 (92.1pc)
    homolog to murine Cpne1 (91.6 pc)
    Homologene
    FAMILY
  • copine family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • secretory vesicle
  • cytosol of neutrophils
  • basic FUNCTION
  • potentially involved in regulating membrane trafficking
  • playing a role in protein-protein interactions
  • 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
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS