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FLASH GENE
Symbol PEX12 contributors: - updated : 17-08-2007
HGNC name peroxisomal biogenesis factor 12
HGNC id 8854
Corresponding disease
PBD6 peroxisome biogenesis disorder 6, Zellweger spectrum
Location 17q12-q21.1      Physical location : 33.901.814 - 33.905.656
Synonym name
  • peroxin 12
  • Synonym symbol(s) HGNC8854
    DNA
    TYPE functioning gene
    STRUCTURE 3.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    CCT6B 17q11.2 chaperonin containing TCP1, subunit 6B (zeta 2) MGC20398 17q21.1 hypothetical protein MGC20398 LIG3 17q11.2-q12 ligase III, DNA, ATP-dependent LOC117584 17q21.1 fring RAD51L3 17q11 RAD51-like 3 (S. cerevisiae) DKFZp434H2215 17q21.1 hypothetical protein DKFZp434H2215 FLJ10458 17q21.1 Notchless gene homolog (Drosophila) CMYA4 17q21.1 cardiomyopathy associated 4 FLJ40154 17q21.1 hypothetical protein FLJ40154 MGC19764 17q21.1 hypothetical protein MGC19764 FLJ34922 17q21.1 hypothetical protein FLJ34922 FLJ10260 17q21.1 hypothetical protein FLJ10260 FLJ31952 17q21.1 hypothetical protein FLJ31952 LOC342615 17q21.1 similar to Adenylosuccinate synthetase 2 (IMP--aspartate ligase 2) (AdSS 2) (AMPSase 2) LOC342616 17q21.1 similar to TAF5L protein LOC342618 17q21.1 similar to FLJ34922 protein PEX12 17q21.1 peroxisomal biogenesis factor 12 AP2B1 17q11.2-q12 adaptor-related protein complex 2, beta 1 subunit VTS58635 GAR17 17q21.1 GAS2-related protein LOC146853 17q21.1 LOC146853 MMP28 17q11-q21.1 matrix metalloproteinase 28 TAF15 17q11.1-q11.2 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa FLJ32830 17q21.1 hypothetical protein FLJ32830 CCL5 17q11.2 chemokine (C-C motif) ligand 5 LOC390786 17 hypothetical gene supported by AL833376 LOC390787 17 similar to KIAA0563 protein RAD52B 17q11.2 RAD52B LOC57151 17q11.2 lysozyme homolog CCL16 17q11.2 chemokine (C-C motif) ligand 16 CCL14 17q11.2 chemokine (C-C motif) ligand 14 CCL14-CCL15 17q21.1 chemokine ligand 14, chemokine ligand 15 transcription unit CCL15 17q11.2 chemokine (C-C motif) ligand 15 CCL23 17q11.2 chemokine (C-C motif) ligand 23 CCL18 17q11.2 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) CCL3 17q11.2 chemokine (C-C motif) ligand 3 CCL4 17q11.2 chemokine (C-C motif) ligand 4
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   predominantly
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   moderately
    Nervousbrain   moderately
    Reproductivemale systemtestis  specific
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two transmembrane segments
  • a cytoplasm N terminal region required for localization to peroxisomes
  • C-terminal region contains an atypical C3HC4 RING zinc finger domain essential for peroxisome function, important for its interaction with PEX5, the import receptor for PTS1-containing proteins, as well as PEX10 and PEX19
  • HOMOLOGY
    interspecies ortholog to chimpanzee pex12
    ortholog to rattus Pex12
    ortholog to murine Pex12
    ortholog to chicken pex12
    Homologene
    FAMILY
  • peroxin 12 family
  • CATEGORY structural protein , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • involved in matrix protein import into peroxisomes
  • acting as an ubiquitin-protein ligase
  • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
  • component with PEX10 of a peroxisomal membrane complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX5
  • PEX10
  • PEX19 via its cytoplasmic domain
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PBD6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS