Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PEX1 contributors: mct/npt - updated : 10-11-2016
HGNC name peroxisome biogenesis factor 1
HGNC id 8850
Corresponding disease
HMLR1 Heimler syndrome 1
IRD7 infantile Refsum disease
NALD1 neonatal adrenoleukodystrophy, autosomal
PBD1 peroxisome biogenesis disorder 1, Zellweger spectrum
ZWS1 Zellweger cerebrohepatorenal syndrome
Location 7q21.2      Physical location : 92.116.337 - 92.157.845
Synonym name
  • peroxin 1
  • Peroxisome biogenesis disorder protein 1
  • Synonym symbol(s) PVD
    DNA
    TYPE functioning gene
    STRUCTURE 41.51 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 4390 - 1283 - 1998 9539740
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • N-terminal domain preferentially bind phosphatidylinositol 3-monophosphate and phosphatidylinositol 4-monophosphate (Shiozawa 2006)
  • two AAA family chaperone-like (adenosine triphosphatases associated with diverse cellular activities)
  • HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae PEX1
    homolog to C.elegans t23e7-1
    ortholog to murine Pex1
    Homologene
    FAMILY
  • AAA protein family (ATPase associated with diverse cellular activities)
  • CATEGORY enzyme , structural protein , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    text two distinct oligomeric forms, a homo-oligomer in the cytosol and a hetero-oligomer on peroxisome membranes, possibly playing distinct functions in peroxisome biogenesis (Tamura 2006)
    basic FUNCTION
  • peroxisome-assembly ATPase
  • required for the stability of PEX5 (PXR1)
  • required for peroxisomal matrix protein import
  • type II AAA-ATPase indispensable for biogenesis and maintenance of the peroxisome, an organelle responsible for the primary metabolism of lipids, such as beta-oxidation and lipid biosynthesis (Shiozawa 2006)
  • PEX1 and PEX6 are Type-2 AAA+ ATPases required for the de novo biogenesis 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 development
    text
  • peroxisome organization and biogenesis
  • neuronal development
  • PATHWAY
    metabolism
    signaling
    a component
  • 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
    protein
  • PEX9, PEX26
  • interacts with PEX6 (each contain two AAA domains and hetero-oligomerize)(Zhang 2010)
  • 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
  • N-terminal region in PEX26 acts as a scaffold protein to recruit PEX14·PEX5 complex together with PEX1·PEX6 complexes on peroxisomes
  • PEX1, PEX6, PEX26 are responsible for the downregulation of pexophagy, the autophagic degradation of 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) PBD1 , IRD7 , ZWS1 , NALD1 , HMLR1
    related resource Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   inversion    
    inv (7)(p12q11.23) in Zellweger syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • murine cells homozygous for the Pex1-G844D allele respond to chaperone-like compounds, which normalizes peroxisomal beta-oxidation