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FLASH GENE
Symbol PEX3 contributors: mct - updated : 26-01-2018
HGNC name peroxisomal biogenesis factor 3
HGNC id 8858
Corresponding disease
ZWS6 Zellweger cerebrohepatorenal syndrome, variant type 6
Location 6q24.2      Physical location : 143.771.917 - 143.811.749
Synonym name
  • peroxin 3
  • peroxisomal assembly protein PEX3
  • transformation-related protein 18
    • Synonym symbol(s) HGNC8858, PBD10A, PBD10B, TRG18
    DNA
    TYPE functioning gene
    STRUCTURE 39.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2774 - 373 ubiquitous 2016 27295553
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • integral peroxisomal membrane protein, the N terminus inside the peroxisome
  • the C terminus facing the peroxisome
  • two predicted transmembrane segments in the N terminus
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • PEX3 inserts co-translationally into the mammalian ER via the SEC61A1 translocon
    • basic FUNCTION
  • playing a selective, essential and direct role in peroxisomal membrane proteins (PMPs)import as a docking factor for PEX19
  • natural or artificial targeting of PEX3 to any endomembrane may initiate peroxisome formation and that also PEX3-containing mitochondria can serve as source for the de novo synthesis of peroxisomes
  • PEX3 and PEX19 are essential for peroxisome biogenesis
  • in peroxisomes, peroxins PEX3 and PEX19 are the principal protein components of the machinery required for early peroxisomal biogenesis
  • within the cell, PEX3 is stabilized by PEX19 preventing PEX3 aggregation
  • essential import receptors PEX3 and PEX14 target mitochondria, where they are selectively released into vesicular pre-peroxisomal structures
  • PEX19 and PEX3 play an indispensable role in peroxisomal membrane protein (PMP) biogenesis, peroxisome division, and inheritance
  • PEX3, an integral peroxisomal membrane protein, and the cytosolic shuttling receptor PEX19 are thought to be responsible for the early steps of peroxisome biogenesis and assembly of their matrix protein import machinery
    • CELLULAR PROCESS protein, post translation, targeting
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text peroxisomal and endoplasmic reticulum targeting signal
    PATHWAY
    metabolism
    signaling
    a component
  • crucial function of the PEX3-PEX19 complex during formation of peroxisomes in peroxisome-deficient cells, pointing to a dual function of the PEX3-PEX19 interaction in peroxisome biogenesis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX3 requires PEX16 for ER location but is dispensable for the ER location of PEX16
  • membrane-anchored PEX3 serves as the receptor for cytosolic PEX19, which in turn recognizes newly synthesized peroxisomal membrane proteins
  • interaction between PEX3, which resides on the peroxisomal membrane, and PEX19, which resides in the cytosol, is crucial for peroxisome formation and the post-translational targeting of peroxisomal membrane proteins (PMPs)
  • PEX19 formed a complex with the peroxisomal Tail-anchored (TA) protein PEX26 in the cytosol and translocated it directly to peroxisomes by interacting with the peroxisomal membrane protein PEX3
  • PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 and SLC25A17, via the ER
  • within the cell, PEX3 is stabilized by PEX19 preventing PEX3 aggregation
  • PEX19 bridged the interaction at the ER between PEX3 and RING-domain proteins, resulting in a ternary complex that was critical for the intra-ER sorting and subsequent budding of the RING-domain peroxins
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ZWS6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS