Substrate In Vitro Evidence:
1. The interaction between peroxisomal ABC transporters with ATP was examined using rat liver peroxisomes. Findings suggested that ATP binds to PMP70 tightly in the absence of Mg2+. In the presence of Mg2+, the bound ATP is hydrolyzed to ADP, which is then dissociated from PMP70. ATP binding/hydrolysis by and the phosphorylation of PMP70 and ALDP are involved in the regulation of fatty acid transport into peroxisomes. Tanaka, AR et al. JBC 2002 Oct 18, 277(42):40142-7 PMID 12176987.
2. Co-IP demonstrated the heterodimerization of PMP70 with ALDRP (adrenoleukodystrophy related protein) or ALDP (adrenoleukodystrophy protein). Loss of ALDP dimerization may play a role in X-linked adrenoleukodystrophy pathogenesis (VLCFAs accumulate because of their impaired peroxisomal beta-oxidation). Liu, LX et al. JBC 1999 Nov 12, 274(46):32738-43 PMID 10551832.
3. Nucleotide-induced conformational changes of PMP70 were investigated by limited-trypsin digestion in rat liver peroxisomes. The results suggested that PMP70 exists as a dimer on the peroxisomal membranes and the binding and hydrolysis of ATP induce conformational changes in PMP70. Kashiwayama, Y et al. Biochem Biophys Res Comm 2002 Mar 15, 291(5):1245-51 PMID 11883951.
Substrate In Vivo Evidence:
1. Zellweger syndrome (ZS) is an inborn error of peroxisome assembly. Two mutant PMP70 alleles in ZS probands suggest that PMP70 plays an important role in peroxisome biogenesis and that mutations in PMP70 may be responsible for a subset of ZS patients. Gartner, J; Moser, H; Valle, D. Nat Genet 1992 Apr, 1(1):16-23 PMID 1301993.
Tissue Distribution Evidence:
1. Electron microscopy, immunocytochemistry, and 3D image reconstruction of peroxisomes and associated compartments in mouse dendritic cells demonstrated the presence of PMP70 in specialized subdomains of the ER that were continuous with a peroxisomal reticulum from which mature peroxisomes arose. Geuze, HJ et al. Mol Biol Cell 2003 Jul, 14(7):2900-7 PMID 12857873.
The heat map summarizes relative expression by tissue type
at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'.
Choose among four calculated expression values, including mean and median RPKM
values, and quantile normalized (QN) distributions of these values.
(Note that differences between some distributions are subtle.)
The coloring is relative to the mean of all displayed values.
All values are log base 2. (See also PMT GTEx Expression Plotting.)
Click on a transcript or tissue to resort the data.
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.
20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes). Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays. Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21) A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)