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FLASH GENE
Symbol PEX6 contributors: mct - updated : 23-01-2018
HGNC name peroxisomal biogenesis factor 6
HGNC id 8859
Corresponding disease
HMLR2 Heimler syndrome 2
PBD2 peroxisome biogenesis disorder 2, Zellweger spectrum
SCABD1 spinocerebellar ataxia with deafness and blindness 1
Location 6p21.1      Physical location : 42.931.612 - 42.946.981
Synonym name
  • peroxin 6
  • peroxisome assembly factor PXAAA1
  • peroxisomal AAA-type ATPase 1
  • peroxisomal-type ATPase 1
  • peroxisome assembly factor 2
  • peroxisome biogenesis factor 6
  • Synonym symbol(s) PAF2, PXAAA1, PAF-2, PBD4A, PDB4B,
    DNA
    TYPE functioning gene
    STRUCTURE 15.37 kb     17 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
    17 - 3514 - 980 - 1996 8670792
    - - 3250 - 892 - 1996 8670792
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node   moderately
     thymus   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectiveadipose   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two AAA family chaperone-like (adenosine triphosphatases associated with diverse cellular activities)
  • C-terminal nucleotide-binding domains (D2) constitute the main ATPase activity of the complex, both D2 harbour essential substrate-binding motifs
  • mono polymer heteromer , complex
    HOMOLOGY
    interspecies ortholog to rattus Pex6
    ortholog to murine Pex6
    Homologene
    FAMILY
  • AAA ATPase family
  • CATEGORY chaperone/stress , enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    text anchored by PEX26 to peroxisome membranes
    basic FUNCTION
  • involved in peroxisome biogenesis
  • required for PXR1 stabilization
  • required for both PTS1 and PTS2 protein import into peroxisomes
  • peroxisome biogenesis gene, involved in suppression of aging defects in mitochondria
  • required for stability of the PTS1 receptor
  • involved in a key step of peroxisomal protein import
  • PEX1 and PEX6 are Type-2 AAA+ ATPases required for the de novo biogenesis of peroxisomes
  • PEX1, PEX6, PEX26 are responsible for the downregulation of pexophagy, the autophagic degradation of peroxisomes
  • PEX1, PEX6 are anchored to the cytosolic face of the peroxisomal membrane by the interaction of PEX6 with the peroxisomal membrane protein PEX26
  • role of PEX1/PEX6 in mechanical unfolding of peroxins or their extraction from the peroxisomal membrane during matrix-protein import
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text peroxisome
    PATHWAY
    metabolism
    signaling
    a component
  • forming heteromeric AAA ATPase complexes
  • part of PEX1–PEX6–PEX26 complex (Zhang 2010)
  • peroxisomal proteins PEX1 and PEX6 form a heterohexameric type II AAA+ ATPase complex, which fuels essential protein transport across peroxisomal membranes
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • PEX26
  • PEX1
  • peroxisomal C-tail-anchored type-II membrane protein, PEX26, recruits AAA ATPase PEX1-PEX6 complexes to peroxisomes
  • PEX1 and PEX6 are most likely regulated in their peroxisomal localization onto PEX26 via conformational changes by the ATPase cycle
  • ZFAND6 is a novel cofactor of PEX6 involved in the regulation of PEX5 export during peroxisome biogenesis
  • N-terminal region in PEX26 acts as a scaffold protein to recruit PEX14·PEX5 complex together with PEX1·PEX6 complexes on peroxisomes
  • PEX1-PEX6 complexes facilitate the export of the peroxisomal matrix protein receptor PEX5 back into the cytosol after PEX5 has delivered its cargo to the peroxisome
  • cell & other
    REGULATION
    Other PEX1 and PEX6 are most likely regulated in their peroxisomal localization onto PEX26 via conformational changes by ATPase cycle
    ASSOCIATED DISORDERS
    corresponding disease(s) PBD2 , HMLR2 , SCABD1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS