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FLASH GENE
Symbol PEX7 contributors: mct - updated : 08-06-2013
HGNC name peroxisomal biogenesis factor 7
HGNC id 8860
Corresponding disease
PBD7 peroxisomal biogenesis disorder, rhizomelic chondrodysplasia punctata spectrum
RCDP1 rhizomelic chondrodysplasia punctata, type 1
Location 6q23.3      Physical location : 137.143.701 - 137.235.071
Synonym name
  • peroxin 7, complementation group 11 (KKI)
  • PTS2 receptor
  • Synonym symbol(s) HGNC0060, PTS2R
    DNA
    TYPE functioning gene
    STRUCTURE 91.37 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC154094 6q23.2 similar to Protein CGI-27 (C21orf19-like protein) ALDH8A1 6q24.1-q25.1 aldehyde dehydrogenase 8 family, member A1 HBS1L 6q23-q24 HBS1-like (S. cerevisiae) MYB 6q23.3-q24 v-myb myeloblastosis viral oncogene homolog (avian) AHI1 6q23.2 Abelson helper integration site LOC391973 6 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) PDE7B 6q23-q24 phosphodiesterase 7B DUFD1 6q23.2 DUF729 domain containing 1 BTF 6q23 DUF729 domain containing 1 MAP7 6q23.3 microtubule-associated protein 7 MAP3K5 6q22.33 mitogen-activated protein kinase kinase kinase 5 PEX7 6q21-q22.2 peroxisomal biogenesis factor 7 SLC35D3 6q23.2 solute carrier family 35, member D3 IL20RA 6q23.3 interleukin 20 receptor, alpha IL22RA2 6q24-q25.1 interleukin 22 receptor, alpha 2 IFNGR1 6q23-q24 interferon gamma receptor 1 OLIG3 6q23.3 oligodendrocyte transcription factor 3 LOC391974 6 similar to RIKEN cDNA 5730434I03 gene LOC134897 6q23.3 similar to protein tyrosine phosphatase TNFAIP3 6q23-q25 tumor necrosis factor, alpha-induced protein 3 PERP 6q24 PERP, TP53 apoptosis effector PBOV1 6q23-q24 prostate and breast cancer overexpressed 1 KIAA1244 6q23.3 KIAA1244 HEBP2 6q24 heme binding protein 2 KIAA1357 6q23.3 KIAA1357 protein LOC389430 6 LOC389430 C6orf80 6q23.1-q24.1 chromosome 6 open reading frame 80
    RNA
    TRANSCRIPTS type messenger
    text with eight smaller alternatively spliced isoforms
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1499 - 323 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveintestinelarge intestinecolon  
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N terminal sequence with no known structural motifs
  • six consensus WD40 repeats
  • HOMOLOGY
    interspecies homolog to yeast Pts2 receptor
    Homologene
    FAMILY
    CATEGORY receptor , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • peroxisomal PTS2 receptor (peroxisome targeting signal 2), but unable to restore PTS2 protein import into peroxisomes in DP fibroblasts
  • involved in peroxisomal import of proteins containing an N-terminal peroxisome-targeting signal (PTS2)
  • cytosolic receptor that imports peroxisomal targeting signal type 2 (PTS2)-containing proteins
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text peroxisome
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PEX5
  • cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCDP1 , PBD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS