ID:PEX5_HUMAN DESCRIPTION: RecName: Full=Peroxisomal targeting signal 1 receptor; Short=PTS1 receptor; Short=PTS1R; AltName: Full=PTS1-BP; AltName: Full=Peroxin-5; AltName: Full=Peroxisomal C-terminal targeting signal import receptor; AltName: Full=Peroxisome receptor 1; FUNCTION: Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. SUBUNIT: Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked ubiquitinated) with ZFAND6. INTERACTION: O00623:PEX12; NbExp=3; IntAct=EBI-597835, EBI-594836; SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane; Peripheral membrane protein. Note=Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor (PEX13). TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DISEASE: Defects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive. DISEASE: Defects in PEX5 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. DISEASE: Defects in PEX5 may be a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. SIMILARITY: Belongs to the peroxisomal targeting signal receptor family. SIMILARITY: Contains 7 TPR repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX5";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P50542
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000268 peroxisome targeting sequence binding GO:0005052 peroxisome matrix targeting signal-1 binding GO:0005515 protein binding GO:0008022 protein C-terminus binding GO:0019899 enzyme binding GO:0031267 small GTPase binding GO:0047485 protein N-terminus binding
Biological Process: GO:0006625 protein targeting to peroxisome GO:0015031 protein transport GO:0016558 protein import into peroxisome matrix GO:0016560 protein import into peroxisome matrix, docking GO:0016561 protein import into peroxisome matrix, translocation GO:0016567 protein ubiquitination GO:0045046 protein import into peroxisome membrane GO:0051262 protein tetramerization GO:1901094 negative regulation of protein homotetramerization
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
