Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor (Q24311492)

rhizomelic chondrodysplasia punctata

GOA release 2020-03-11

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F Baas

7

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author name string

A M Motley

1

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E H Hettema

2

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E M Hogenhout

3

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P Brites

4

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A L ten Asbroek

5

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F A Wijburg

6

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H S Heijmans

8

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H F Tabak

9

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R J Wanders

10

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B Distel

PEB1 (PAS7) in Saccharomyces cerevisiae encodes a hydrophilic, intra-peroxisomal protein that is a member of the WD repeat family and is essential for the import of thiolase into peroxisomes

11

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language of work or name

English

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publication date

April 1997

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published in

Nature Genetics

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volume

15

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issue

4

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page(s)

377-80

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cites work

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A unified nomenclature for peroxisome biogenesis factors

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Analysis of the carboxyl-terminal peroxisomal targeting signal 1 in a homologous context in Saccharomyces cerevisiae

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The SH3 domain of the Saccharomyces cerevisiae peroxisomal membrane protein Pex13p functions as a docking site for Pex5p, a mobile receptor for the import PTS1-containing proteins.

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Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor

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Multiple PEX genes are required for proper subcellular distribution and stability of Pex5p, the PTS1 receptor: evidence that PTS1 protein import is mediated by a cycling receptor

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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

20 April 2017

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Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders

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The ancient regulatory-protein family of WD-repeat proteins

20 April 2017

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Peb1p (Pas7p) is an intraperoxisomal receptor for the NH2-terminal, type 2, peroxisomal targeting sequence of thiolase: Peb1p itself is targeted to peroxisomes by an NH2-terminal peptide.

20 April 2017

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Identification of Pex13p a peroxisomal membrane receptor for the PTS1 recognition factor

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Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant

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Differential protein import deficiencies in human peroxisome assembly disorders

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Proteins involved in peroxisome biogenesis and functioning.

21 January 2018

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The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family

21 January 2018

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The Hansenula polymorpha PER3 gene is essential for the import of PTS1 proteins into the peroxisomal matrix

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PAS10 is a tetratricopeptide-repeat protein that is essential for the import of most matrix proteins into peroxisomes of Saccharomyces cerevisiae

21 January 2018

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7 January 2021

PAS7 encodes a novel yeast member of the WD-40 protein family essential for import of 3-oxoacyl-CoA thiolase, a PTS2-containing protein, into peroxisomes

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Protein import into peroxisomes and biogenesis of the organelle

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Import of proteins into peroxisomes and other microbodies

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7 January 2021

The import receptor for the peroxisomal targeting signal 2 (PTS2) in Saccharomyces cerevisiae is encoded by the PAS7 gene.

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7 January 2021

Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

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7 January 2021

Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

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The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

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Intracellular protein trafficking defects in human disease

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Centromeric DNA of Kluyveromyces lactis

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Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

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7 January 2021