PEX7

Summary

Gene Symbol: PEX7
Description: peroxisomal biogenesis factor 7
Alias: PBD9B, PTS2R, RCDP1, peroxisomal biogenesis factor 7, PTS2 receptor, peroxin-7, peroxisomal PTS2 receptor, peroxisomal targeting signal 2 receptor, peroxisome targeting signal 2 receptor
Species: human
Products:     PEX7

Top Publications

  1. Purdue P, Zhang J, Skoneczny M, Lazarow P. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. 1997;15:381-4 pubmed
    ..Complementation of this mutant has led to the identification of the protein ScPex7p, a PTS2 receptor. In this paper we report cloning of the human orthologue of ScPEX7, and demonstrate that this is the defective ..
  2. Braverman N, Steel G, Obie C, Moser A, Moser H, Gould S, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997;15:369-76 pubmed
    ..b>PEX7, a candidate gene for RCDP identified in yeast, encodes the receptor for peroxisomal matrix proteins with the type-..
  3. Motley A, Hettema E, Hogenhout E, Brites P, Ten Asbroek A, Wijburg F, et al. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet. 1997;15:377-80 pubmed
    ..Here we report the cloning of PEX7 encoding the human PTS2 receptor, based on its similarity to two yeast orthologues...
  4. Anderson Baron M, Simmonds A. Peroxisome Protein Prediction in Drosophila melanogaster. Subcell Biochem. 2018;89:235-258 pubmed publisher
    ..Although the fly genome encodes a Pex7 homologue, a canonical PTS2 import system does not seem to be conserved in Drosophila...
  5. Okumoto K, Miyata N, Fujiki Y. Identification of Peroxisomal Protein Complexes with PTS Receptors, Pex5 and Pex7, in Mammalian Cells. Subcell Biochem. 2018;89:287-298 pubmed publisher
    Pex5 and Pex7 are cytosolic receptors for peroxisome targeting signal type-1 (PTS1) and type-2 (PTS2), respectively, and play a pivotal role in import of peroxisomal matrix proteins...
  6. Ramón N, Bartel B. Interdependence of the peroxisome-targeting receptors in Arabidopsis thaliana: PEX7 facilitates PEX5 accumulation and import of PTS1 cargo into peroxisomes. Mol Biol Cell. 2010;21:1263-71 pubmed publisher
    ..PEX5 is the PTS1 receptor; PEX7 is the PTS2 receptor. In plants and mammals, PEX7 depends on PEX5 binding to deliver PTS2 cargo into the peroxisome...
  7. Di Cara F, Rachubinski R, Simmonds A. Distinct Roles for Peroxisomal Targeting Signal Receptors Pex5 and Pex7 in Drosophila. Genetics. 2019;211:141-149 pubmed publisher
    ..has been identified in Drosophila, Pex7 from Drosophila can function as a bona fide PTS2 receptor because it can rescue targeting of the PTS2-containing protein thiolase to peroxisomes in PEX7 mutant ..
  8. Hagmann V, Sommer S, Fabian P, Bierlmeier J, van Treel N, Mootz H, et al. Chemically monoubiquitinated PEX5 binds to the components of the peroxisomal docking and export machinery. Sci Rep. 2018;8:16014 pubmed publisher
    ..either a peroxisomal targeting sequence 1 (PTS1) or a PTS2 that are recognized by the import receptors PEX5 and PEX7, respectively...
  9. Salcher S, Hagenbuchner J, Geiger K, Seiter M, Rainer J, Kofler R, et al. C10ORF10/DEPP, a transcriptional target of FOXO3, regulates ROS-sensitivity in human neuroblastoma. Mol Cancer. 2014;13:224 pubmed publisher
    ..microscopy of EYFP-tagged DEPP, fluorescent peroxisomal- and mitochondrial probes and co-immunoprecipitation of the PEX7 receptor...

More Information

Publications49

  1. Luoma A, Kuo F, Cakici O, Crowther M, Denninger A, Avila R, et al. Plasmalogen phospholipids protect internodal myelin from oxidative damage. Free Radic Biol Med. 2015;84:296-310 pubmed publisher
    ..Myelin in sciatic nerve from plasmalogen-deficient (Pex7 knockout) mice was significantly more vulnerable to Cu/OP/HP-mediated ROS-induced compaction than myelin from WT ..
  2. Mathijssen I, Henneman L, van Eeten Nijman J, Lakeman P, Ottenheim C, Redeker E, et al. Targeted carrier screening for four recessive disorders: high detection rate within a founder population. Eur J Med Genet. 2015;58:123-8 pubmed publisher
    ..hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III...
  3. Buchert R, Tawamie H, Smith C, Uebe S, Innes A, Al Hallak B, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014;95:602-10 pubmed publisher
    ..Mutations in PEX7, GNPAT, and AGPS, all involved in the plasmalogen-biosynthesis pathway, have been described in individuals with ..
  4. Barøy T, Koster J, Strømme P, Ebberink M, Misceo D, Ferdinandusse S, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015;24:5845-54 pubmed publisher
    ..Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1)...
  5. Suaste Olmos F, Zirión Martínez C, Takano Rojas H, Peraza Reyes L. Meiotic development initiation in the fungus Podospora anserina requires the peroxisome receptor export machinery. Biochim Biophys Acta Mol Cell Res. 2018;1865:572-586 pubmed publisher
    ..However, this defect is not seen in the absence of the receptors PEX5 and PEX7, or of the docking peroxins PEX14 and PEX14/17. Here we describe the function of the remaining uncharacterized P...
  6. Xu Z, Asahchop E, Branton W, Gelman B, Power C, Hobman T. MicroRNAs upregulated during HIV infection target peroxisome biogenesis factors: Implications for virus biology, disease mechanisms and neuropathology. PLoS Pathog. 2017;13:e1006360 pubmed publisher
    ..miR-500a-5p, miR-34c-3p, miR-93-3p and miR-381-3p), are predicted to target peroxisome biogenesis factors (PEX2, PEX7, PEX11B and PEX13)...
  7. Kumar S, Singh R, Williams C, van der Klei I. Stress exposure results in increased peroxisomal levels of yeast Pnc1 and Gpd1, which are imported via a piggy-backing mechanism. Biochim Biophys Acta. 2016;1863:148-56 pubmed publisher
    ..Import of both proteins into peroxisomes depends on the peroxisomal targeting signal 2 (PTS2) receptor Pex7. Gpd1 contains a PTS2, however, Pnc1 lacks this sequence...
  8. Xu J, Dai A, Chen Q, Liu X, Zhang Y, Wang H, et al. Genetic regulation analysis reveals involvement of tumor necrosis factor and alpha-induced protein 3 in stress response in mice. Gene. 2016;576:528-36 pubmed publisher
    ..We confirmed a significant influence of Tnfaip3 depletion on the expression of Tsc22d3, Pex7, Rap2a, Slc2a3, and Gap43...
  9. Duker A, Niiler T, Eldridge G, Brereton N, Braverman N, Bober M. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2017;173:108-113 pubmed publisher
    ..of RCDP, all of which have autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5...
  10. Montilla Martinez M, Beck S, Klümper J, Meinecke M, Schliebs W, Wagner R, et al. Distinct Pores for Peroxisomal Import of PTS1 and PTS2 Proteins. Cell Rep. 2015;13:2126-34 pubmed publisher
    Two peroxisomal targeting signals, PTS1 and PTS2, recognized by cytosolic receptors Pex5 and cooperating Pex7/Pex18, direct folded proteins to the peroxisomal matrix...
  11. Maier M, Luks L, Baudendistel O, Wittmann V, Dietrich D. Identification of d-amino acid oxidase and propiverine interaction partners and their potential role in the propiverine-mediated nephropathy. Chem Biol Interact. 2018;281:69-80 pubmed publisher
    ..involved in peroxisomal trafficking (HSC70, DnaJB1) and peroxisomal biogenesis factor proteins (PEX3, PEX5, PEX7), also presented with distinct mislocalization patterns...
  12. Kao Y, Fleming W, Ventura M, Bartel B. Genetic Interactions between PEROXIN12 and Other Peroxisome-Associated Ubiquitination Components. Plant Physiol. 2016;172:1643-1656 pubmed
    ..Peroxisomal matrix proteins carry peroxisome-targeting signals that are recognized by one of two receptors, PEX5 or PEX7, in the cytosol...
  13. Shimizu N, Itoh R, Hirono Y, Otera H, Ghaedi K, Tateishi K, et al. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. J Biol Chem. 1999;274:12593-604 pubmed
    ..Neither of these two mutant forms of Pex14p restored peroxisome biogenesis in ZP110 and ZP161, thereby demonstrating PEX14 to be responsible for peroxisome deficiency in CG14. ..
  14. Arning L, Monte D, Hansen W, Wieczorek S, Jagiello P, Akkad D, et al. ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease. J Mol Med (Berl). 2008;86:485-90 pubmed publisher
    ..markers revealed consolidated evidence for association in a candidate region comprising the genes MAP3K5 (ASK1)/PEX7 at 6q23.3 and in the gene MAP2K6 at 17q24.3...
  15. Jansen G, Waterham H, Wanders R. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004;23:209-18 pubmed
    ..Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work.
  16. Rodrigues T, Alencastre I, Francisco T, Brites P, Fransen M, Grou C, et al. A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway. Mol Cell Biol. 2014;34:2917-28 pubmed publisher
    ..1 signal are carried to the peroxisome by PEX5, whereas those harboring a type 2 signal are transported by a PEX5-PEX7 complex. The pathway followed by PEX5 during the protein transport cycle has been characterized in detail...
  17. Shimozawa N, Suzuki Y, Zhang Z, Miura K, Matsumoto A, Nagaya M, et al. A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. J Hum Genet. 1999;44:123-5 pubmed
    Mutations in the PEX7 gene encoding a peroxisome targeting signal 2 (PTS2) were identified in two patients with rhizomelic chondrodysplasia punctata (RCDP)...
  18. Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Genomics. 2000;63:181-92 pubmed
    We recently reported cloning a cDNA encoding Pex7p, the peroxisomal PTS2 receptor. PEX7 mutations cause the peroxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP)...
  19. Dodt G, Warren D, Becker E, Rehling P, Gould S. Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p. J Biol Chem. 2001;276:41769-81 pubmed
    ..Only one isoform, PEX5L, is involved in PTS2 protein import, and PEX5L physically interacts with PEX7, the import receptor for PTS2-containing proteins...
  20. Kunze M, Malkani N, Maurer Stroh S, Wiesinger C, Schmid J, Berger J. Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7. J Biol Chem. 2015;290:4928-40 pubmed publisher
    ..PTS2-carrying proteins interact with their cognate receptor protein PEX7 that mediates their transport to peroxisomes by a concerted action with a co-receptor protein, which in mammals is ..
  21. Will G, Soukupova M, Hong X, Erdmann K, Kiel J, Dodt G, et al. Identification and characterization of the human orthologue of yeast Pex14p. Mol Cell Biol. 1999;19:2265-77 pubmed
    ..The role of HsPex14p in mammalian peroxisome biogenesis makes HsPEX14 a candidate PBD gene for being responsible for an unrecognized complementation group of human peroxisome biogenesis disorders. ..
  22. Ro M, Park J, Nam M, Bang H, Yang J, Choi K, et al. Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population. J Child Neurol. 2012;27:1270-5 pubmed
    ..Although the cause of autism spectrum disorder remains elusive, the present study identified peroxisomal biogenesis factor 7 (PEX7) as a gene associated with autism spectrum disorder, and this association was examined in a ..
  23. Kunze M, Neuberger G, Maurer Stroh S, Ma J, Eck T, Braverman N, et al. Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7. J Biol Chem. 2011;286:45048-62 pubmed publisher
    ..Three-dimensional structural modeling of the PTS2 receptor PEX7 reveals a groove with an evolutionarily conserved charge distribution complementary to PTS2 signals...
  24. van den Brink D, Brites P, Haasjes J, Wierzbicki A, Mitchell J, Lambert Hamill M, et al. Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol. 2003;544:69-70 pubmed
  25. Motley A, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, et al. Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet. 2002;70:612-24 pubmed
    ..Most patients with RCDP have mutations in the PEX7 gene encoding peroxin 7, the cytosolic PTS2-receptor protein required for targeting a subset of enzymes to peroxisomes...
  26. Phadke S, Gupta N, Girisha K, Kabra M, Maeda M, Vidal E, et al. Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. J Appl Genet. 2010;51:107-10 pubmed publisher
    ..We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them...
  27. Wróblewska J, Cruz Zaragoza L, Yuan W, Schummer A, Chuartzman S, de Boer R, et al. Saccharomyces cerevisiae cells lacking Pex3 contain membrane vesicles that harbor a subset of peroxisomal membrane proteins. Biochim Biophys Acta Mol Cell Res. 2017;1864:1656-1667 pubmed publisher
    ..Fluorescence microscopy studies revealed that also the PTS2 receptor Pex7, the importomer organizing peroxin Pex8, the ubiquitin conjugating enzyme Pex4 with its recruiting PMP ..
  28. Rodrigues T, Grou C, Azevedo J. Revisiting the intraperoxisomal pathway of mammalian PEX7. Sci Rep. 2015;5:11806 pubmed publisher
    ..containing a cleavable type 2 targeting signal (PTS2) are transported to the peroxisome by a cytosolic PEX5-PEX7 complex...
  29. Klouwer F, Koster J, Ferdinandusse S, Waterham H. Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line. Histochem Cell Biol. 2017;147:537-541 pubmed publisher
    ..a marked plasmalogen deficiency and a deficient fatty acid ?-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins...
  30. Mihalik S, Morrell J, Kim D, Sacksteder K, Watkins P, Gould S. Identification of PAHX, a Refsum disease gene. Nat Genet. 1997;17:185-9 pubmed
    ..Human PAHX is targetted to peroxisomes, requires the PTS2 receptor for peroxisomal localization, interacts with the PTS2 receptor in the yeast two-hybrid assay and has intrinsic ..
  31. Elgersma Y, Elgersma Hooisma M, Wenzel T, McCaffery J, Farquhar M, Subramani S. A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris. J Cell Biol. 1998;140:807-20 pubmed
    ..screening procedure for the isolation of peroxisomal import mutants in Pichia pastoris, we have isolated a mutant (pex7) that is specifically disturbed in the peroxisomal import of proteins containing a peroxisomal targeting signal ..
  32. Otera H, Setoguchi K, Hamasaki M, Kumashiro T, Shimizu N, Fujiki Y. Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import. Mol Cell Biol. 2002;22:1639-55 pubmed
    ..Thus, Pex14p and Pex13p very likely form mutually and temporally distinct subcomplexes involved in peroxisomal matrix protein import...
  33. Ghys K, Fransen M, Mannaerts G, Van Veldhoven P. Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. Biochem J. 2002;365:41-50 pubmed
    ..The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol...
  34. Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat. 2002;20:284-97 pubmed
    b>PEX7 encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2)...
  35. van den Brink D, Brites P, Haasjes J, Wierzbicki A, Mitchell J, Lambert Hamill M, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003;72:471-7 pubmed
    ..This region includes the PEX7 gene, which codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2...
  36. Çim A, CoÅŸkun S, Görükmez O, Yüksel H, Uluca Ã, Pietro E, et al. Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. J Clin Res Pediatr Endocrinol. 2015;7:69-72 pubmed publisher
    ..chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner...
  37. Miyauchi Nanri Y, Mukai S, Kuroda K, Fujiki Y. CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p. Biochem J. 2014;463:65-74 pubmed publisher
    ..Mutations in the PEX7 gene cause RCDP (rhizomelic chondrodysplasia punctata) type 1, a distinct PTS2-import-defective phenotype of ..
  38. Girzalsky W, Rehling P, Stein K, Kipper J, Blank L, Kunau W, et al. Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes. J Cell Biol. 1999;144:1151-62 pubmed
    ..We also found Pex13p to be required for peroxisomal association of Pex14p, yet the SH3 domain of Pex13p may not provide the only binding site for Pex14p at the peroxisomal membrane...