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PEX7 Pex7p

PEX7, Pex7p, PTS2 receptor, a WD repeat protein
This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: ACID, Pex13p, CAN, Pts, PEX2
Papers on PEX7
Role of Pex21p for Piggyback Import of Gpd1p and Pnc1p into Peroxisomes of Saccharomyces cerevisiae.
New
Erdmann et al., Bochum, Germany. In J Biol Chem, Nov 2015
In the yeast Saccharomyces cerevisiae, the oleate-induced PTS2-dependent import of the thiolase Fox3p into peroxisomes is conducted by the soluble import receptor Pex7p in cooperation with the auxiliary Pex18p, one of two supposedly redundant PTS2 co-receptors.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
New
Frengen et al., Amsterdam, Netherlands. In Hum Mol Genet, Nov 2015
Mutations in PEX5 or 12 other PEX genes cause peroxisome biogenesis disorders, collectively named the Zellweger spectrum disorders (ZSDs), whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1).
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Review
New
Ozen et al., İstanbul, Turkey. In Hum Mol Genet, Nov 2015
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome.
The Gβ-like protein CpcB is required for hyphal growth, conidiophore morphology and pathogenicity in Aspergillus fumigatus.
New
Lu et al., Nanjing, China. In Fungal Genet Biol, Aug 2015
CpcB (cross pathway control B) encodes a yeast Cpc2 and mammalian RACK1 (receptor for activated protein kinase C) ortholog, which is a WD repeat protein with functional homology to the β subunit of heterotrimeric G proteins in Aspergillus fumigatus.
Revisiting the intraperoxisomal pathway of mammalian PEX7.
Azevedo et al., Porto, Portugal. In Sci Rep, 2014
Newly synthesized peroxisomal proteins containing a cleavable type 2 targeting signal (PTS2) are transported to the peroxisome by a cytosolic PEX5-PEX7 complex.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Lehnert et al., Auckland, New Zealand. In Case Rep Genet, 2014
Whole exome sequencing identified compound heterozygous stop mutations in the peroxisome biogenesis factor 7 gene in both individuals.
Peroxisome biogenesis in mammalian cells.
Review
Tamura et al., Fukuoka, Japan. In Front Physiol, 2013
In matrix protein import, newly synthesized proteins harboring peroxisome targeting signal type 1 or 2 are recognized by Pex5p or Pex7p in the cytoplasm and are imported to peroxisomes via translocation machinery.
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
GeneRIF
Berger et al., Vienna, Austria. In J Biol Chem, 2012
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
Interdependence of the peroxisome-targeting receptors in Arabidopsis thaliana: PEX7 facilitates PEX5 accumulation and import of PTS1 cargo into peroxisomes.
GeneRIF
Bartel et al., Houston, United States. In Mol Biol Cell, 2010
PEX7 facilitates PEX5 accumulation and import of PTS1 cargo into peroxisomes
Getting a camel through the eye of a needle: the import of folded proteins by peroxisomes.
Review
Baker et al., Leeds, United Kingdom. In Biol Cell, 2010
The two classes of matrix targeting signals for peroxisomal proteins [PTS1 (peroxisomal targeting signal 1) and PTS2] are recognized by cytosolic receptors [PEX5 (peroxin 5) and PEX7 respectively] which escort their cargo proteins to, or possibly across, the peroxisome membrane.
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
GeneRIF
Braverman et al., Lucknow, India. In J Appl Genet, 2009
Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata.
Molecular components required for the targeting of PEX7 to peroxisomes in Arabidopsis thaliana.
GeneRIF
Nishimura et al., Okazaki, Japan. In Plant J, 2009
results suggest that the targeting of PEX7 to peroxisomes requires four proteins: a PTS2-containing protein, PEX14, PEX13 and PEX12.
Peroxisomal targeting of PTS2 pre-import complexes in the yeast Saccharomyces cerevisiae.
GeneRIF
Erdmann et al., Bochum, Germany. In Traffic, 2009
Data strongly suggest that the formation of the ternary cytosolic PTS2 pre-import complex occurs hierarchically.
Refsum Disease
Review
Leroy et al., Seattle, United States. In Unknown Journal, 2006
Confirmation of the diagnosis requires either (1) molecular genetic testing to identify biallelic pathogenic variants in either PHYH (encoding phytanoyl-CoA hydroxylase), which accounts for more than 90% of Refsum disease, or PEX7 (encoding the PTS2 receptor), which accounts for less than 10% of Refsum disease; or (2) enzyme analysis to identify deficiency of either phytanoyl-CoA hydroxylase enzyme activity or the peroxisome-targeting signal type 2 receptor.
Rhizomelic Chondrodysplasia Punctata Type 1
Review
Steinberg et al., Seattle, United States. In Unknown Journal, 2001
Biochemical tests of peroxisome function include: red blood cell concentration of plasmalogens (deficient), plasma concentration of phytanic acid (elevated), and plasma concentration of very long chain fatty acids (VLCFA) (normal), which has consistently predicted the PEX7 receptor defect in RCDP1.
The human peroxisomal targeting signal receptor, Pex5p, is translocated into the peroxisomal matrix and recycled to the cytosol.
Impact
Subramani et al., San Diego, United States. In Cell, 2001
Peroxisomal targeting signals (PTSs) are recognized by predominantly cytosolic receptors, Pex5p and Pex7p.
Identification of PAHX, a Refsum disease gene.
Impact
Gould et al., Baltimore, United States. In Nat Genet, 1997
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 phytanoyl-CoA alpha-hydroxylase activity that requires the dioxygenase cofactor iron and cosubstrate 2-oxoglutarate.
Pex14p, a peroxisomal membrane protein binding both receptors of the two PTS-dependent import pathways.
Impact
Kunau et al., Bochum, Germany. In Cell, 1997
It is the only known peroxisomal membrane protein that binds the PTS2 receptor and might thus mediate the membrane docking event of PTS2-dependent protein import.
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
Impact
Distel et al., Amsterdam, Netherlands. In Nat Genet, 1997
Here we report the cloning of PEX7 encoding the human PTS2 receptor, based on its similarity to two yeast orthologues.
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Impact
Lazarow et al., New York City, United States. In Nat Genet, 1997
We have previously isolated a Saccharomyces cerevisiae peroxisomal biogenesis mutant, pex7 (formerly peb1/pas7), which demonstrates a striking similarity to the cellular phenotype of RCDP fibroblasts in that PTS1 targeting is functional, but the peroxisomal packaging of PTS2 targeted thiolase is lacking.
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