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FLASH GENE
Symbol PEX13 contributors: mct - updated : 13-05-2014
HGNC name peroxisome biogenesis factor 13
HGNC id 8855
Corresponding disease
PBD4 peroxisome biogenesis disorder 4, Zellweger spectrum
Location 2p16.1      Physical location : 61.244.811 - 61.279.124
Synonym name
  • peroxin 13, complementation group H (Japan)
  • peroxin-13
  • peroxisomal membrane protein PEX13
  • Synonym symbol(s) HGNC8855, PEXD, NALD, PBD11A, PBD11B, ZWS
    DNA
    TYPE functioning gene
    STRUCTURE 34.31 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4524 - 403 - 1998 9878256
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     liver   highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus (PTS2) peroxisomal targeting signals 2, is sufficient for localization at the peroxisome, which in turn seems to be required for mediating the self-association of PEX13, and N-terminal domain alone is sufficient for homooligomerization
  • C terminal SH3 domain binding PEX5, and C-terminus (PTS1), an Src homology 3 (SH3) domain at the C-terminus, which faces the cytosol
  • HOMOLOGY
    interspecies homolog to murine Efs
    homolog to murine Pex13
    intraspecies homolog to PACSIN3
    Homologene
    FAMILY
    CATEGORY storage , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • peroxisome biogenesis factor
  • encoding the docking factor for the PTS1 receptor (PEX5), also required for PTS2 import
  • homooligomerization of PEX13 is essential for its function in the import of PTS1 protein but not of PTS2 protein, but homooligomerization is not important for PEX13 interaction with PEX14
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text peroxisome
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid and sterol
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with itself in peroxisomes in living cells
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBD4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pex13 deficiency leads to mitochondria-mediated oxidative stress, neuronal cell death and impairment of cerebellar development, and Pex13-deficient mice provide a valuable animal model for investigating the molecular basis and treatment of ZS cerebellar pathology