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FLASH GENE
Symbol PEX14 contributors: mct/npt - updated : 01-02-2015
HGNC name peroxisomal biogenesis factor 14
HGNC id 8856
Corresponding disease
PBD10 peroxisome biogenesis disorder 10, Zellweger spectrum
Location 1p36.22      Physical location : 10.535.002 - 10.690.813
Synonym name
  • NF-E2 associated polypeptide 2
  • peroxinin 14
  • PTS1 receptor docking protein
  • Synonym symbol(s) NAPP2, dJ734G22.2, Pex14p, MGC12767
    DNA
    TYPE functioning gene
    STRUCTURE 155.81 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1945 41.2 377 - Olsen (2006)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestine   
     mouthtongue  highly
     pancreas exocrine   moderately
    Reproductivefemale systemplacenta  highly
     female systemuteruscervix moderately
     female systemovary  highly
    Respiratorylung   highly
    Skin/Tegumentskin   moderately
    Urinarybladder   moderately
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid Hydrophobic
    STRUCTURE
    motifs/domains
  • N-terminal domain mediating molecular interactions with PEX5 and PEX19, and modulating peroxisomal targeting of PEX14
  • an aspartic-acid and glutamic acid rich region
  • a non-membrane hydrophobic region
  • a coiled-coil region
  • a charged acidic C terminus
  • a single putative transmembrane domain
  • C-terminal two-thirds are exposed into the cytosol, whereas its N-terminal domain is either embedded in the peroxisomal membrane or even exposed into the matrix of the organelle
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Pex14
    ortholog to murine Pex14
    Homologene
    FAMILY
  • peroxin 14 family
  • CATEGORY regulatory , storage
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    text
  • intrinsic peroxisomal membrane protein
  • outer face
  • basic FUNCTION
  • involved in the transcription regulation of specific erythroid and megakaryocytic gene
  • putative docking protein for PEX5, the peroxisomal cycling receptor
  • multi-tasking protein that not only facilitates peroxisomal protein import but is also required for peroxisome motility by serving as membrane anchor for microtubules
  • role of PEX14 in the release of cargo proteins into the peroxisomal matrix
  • essential import receptors PEX3 and PEX14 target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the peroxisomal translocation machinery with PEX13 and PEX17
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX13 (SH3 protein domain), putative docking protein for PTS1-dependent protein import, with HDAC1
  • central component of the peroxisomal import machinery and binds the soluble receptors PEX5 and PEX19
  • tubulin was discovered to be the major PEX14-associated protein
  • N-terminal region in PEX26 acts as a scaffold protein to recruit PEX14ĚPEX5 complex together with PEX1ĚPEX6 complexes on peroxisomes
  • in the peroxisomal protein import, AAA peroxins modulate the interaction between PEX26 and PEX14 on peroxisome membrane as well as PEX5 oligomer in the cytosol
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBD10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in favorable subset of primary neuroblastoma
    tumoral     --low  
    in unfavorable subset of primary neuroblastoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS