PEX5

PEX5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1FCH, 2C0L, 2C0M, 2J9Q, 2W84, 3R9A, 4BXU, 4KXK, 4KYO
Identifiers
Aliases	PEX5, peroxisomal biogenesis factor 5, RCDP5, PTS1R, PBD2B, PTS1-BP, PXR1, PBD2A
External IDs	OMIM: 600414; MGI: 1098808; HomoloGene: 270; GeneCards: PEX5; OMA:PEX5 - orthologs
Gene location (Human) Chr. Chromosome 12 (human) Band 12p13.31 Start 7,188,685 bp End 7,218,574 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 F2|6 59.15 cM Start 124,373,775 bp End 124,392,026 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle left testis right testis C1 segment skeletal muscle tissue substantia nigra prefrontal cortex putamen hippocampus proper right frontal lobe Top expressed in right kidney left lobe of liver granulocyte proximal tubule lip spermatocyte muscle of thigh ventricular zone stroma of bone marrow brown adipose tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein C-terminus binding small GTPase binding protein N-terminus binding peroxisome targeting sequence binding enzyme binding protein binding peroxisome matrix targeting signal-1 binding Cellular component cytoplasm peroxisome membrane peroxisomal matrix intracellular anatomical structure Golgi apparatus cytosol peroxisomal membrane protein-containing complex Biological process negative regulation of protein homotetramerization protein import into peroxisome membrane protein import into peroxisome matrix, docking protein tetramerization protein transport protein targeting to peroxisome protein import into peroxisome matrix, translocation protein import into peroxisome matrix protein ubiquitination transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5830 19305 Ensembl ENSG00000139197 ENSG00000288217 ENSMUSG00000005069 UniProt P50542 O09012 RefSeq (mRNA) NM_000319 NM_001131023 NM_001131024 NM_001131025 NM_001131026 NM_001300789 NM_001351124 NM_001351126 NM_001351127 NM_001351128 NM_001351130 NM_001351131 NM_001351132 NM_001351133 NM_001351134 NM_001351135 NM_001351136 NM_001351137 NM_001351138 NM_001351139 NM_001351140 NM_001374645 NM_001374646 NM_001374647 NM_001374648 NM_001374649 NM_001277330 NM_001277805 NM_008995 NM_175933 NM_001360570 RefSeq (protein) NP_000310 NP_001124495 NP_001124496 NP_001124497 NP_001124498 NP_001287718 NP_001338053 NP_001338055 NP_001338056 NP_001338057 NP_001338059 NP_001338060 NP_001338061 NP_001338062 NP_001338063 NP_001338064 NP_001338065 NP_001338066 NP_001338067 NP_001338068 NP_001338069 NP_001264259 NP_001264734 NP_033021 NP_787947 NP_001347499 Location (UCSC) Chr 12: 7.19 – 7.22 Mb Chr 6: 124.37 – 124.39 Mb PubMed search
Wikidata
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Peroxisomal targeting signal 1 receptor (PTS1R) is a protein that in humans is encoded by the PEX5 gene.

PTS1R is a peroxisomal targeting sequence involved in the specific transport of molecules for oxidation inside the peroxisome. SKL binds to PTS1R in the cytosol followed by binding to the Pex14p receptor allowing importation of the peroxisomal protein through the pexsubunit transporter.

Diseases associated with dysfunctional PTS1R receptors include X-linked adrenoleukodystrophy and Zellweger syndrome.

Interactions

PEX5 has been shown to interact with PEX12, PEX13 and PEX14.

Further reading

• Fransen M, Brees C, Baumgart E, Vanhooren JC, Baes M, Mannaerts GP, Van Veldhoven PP (Mar 1995). "Identification and characterization of the putative human peroxisomal C-terminal targeting signal import receptor". The Journal of Biological Chemistry. 270 (13): 7731–6. doi:10.1074/jbc.270.13.7731. PMID 7706321.
• Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ (Feb 1995). "Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders". Nature Genetics. 9 (2): 115–25. doi:10.1038/ng0295-115. PMID 7719337. S2CID 8469214.
• Wiemer EA, Nuttley WM, Bertolaet BL, Li X, Francke U, Wheelock MJ, Anné UK, Johnson KR, Subramani S (Jul 1995). "Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders". The Journal of Cell Biology. 130 (1): 51–65. doi:10.1083/jcb.130.1.51. PMC 2120514. PMID 7790377.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Marynen P, Fransen M, Raeymaekers P, Mannaerts GP, Van Veldhoven PP (Nov 1995). "The gene for the peroxisomal targeting signal import receptor (PXR1) is located on human chromosome 12p13, flanked by TPI1 and D12S1089". Genomics. 30 (2): 366–8. doi:10.1006/geno.1995.0032. PMID 8586442.
• Gould SJ, Kalish JE, Morrell JC, Bjorkman J, Urquhart AJ, Crane DI (Oct 1996). "Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor". The Journal of Cell Biology. 135 (1): 85–95. doi:10.1083/jcb.135.1.85. PMC 2121023. PMID 8858165.
• Dodt G, Gould SJ (Dec 1996). "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". The Journal of Cell Biology. 135 (6 Pt 2): 1763–74. doi:10.1083/jcb.135.6.1763. PMC 2133940. PMID 8991089.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ (Dec 1997). "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders". Nature Genetics. 17 (4): 445–8. doi:10.1038/ng1297-445. PMID 9398847. S2CID 34034756.
• Otera H, Okumoto K, Tateishi K, Ikoma Y, Matsuda E, Nishimura M, Tsukamoto T, Osumi T, Ohashi K, Higuchi O, Fujiki Y (Jan 1998). "Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants". Molecular and Cellular Biology. 18 (1): 388–99. doi:10.1128/mcb.18.1.388. PMC 121509. PMID 9418886.
• Fransen M, Terlecky SR, Subramani S (Jul 1998). "Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import". Proceedings of the National Academy of Sciences of the United States of America. 95 (14): 8087–92. Bibcode:1998PNAS...95.8087F. doi:10.1073/pnas.95.14.8087. PMC 20933. PMID 9653144.
• Amery L, Brees C, Baes M, Setoyama C, Miura R, Mannaerts GP, Van Veldhoven PP (Dec 1998). "C-terminal tripeptide Ser-Asn-Leu (SNL) of human D-aspartate oxidase is a functional peroxisome-targeting signal". The Biochemical Journal. 336 (Pt 2): 367–71. doi:10.1042/bj3360367. PMC 1219880. PMID 9820813.
• Shimizu N, Itoh R, Hirono Y, Otera H, Ghaedi K, Tateishi K, Tamura S, Okumoto K, Harano T, Mukai S, Fujiki Y (Apr 1999). "The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis". The Journal of Biological Chemistry. 274 (18): 12593–604. doi:10.1074/jbc.274.18.12593. PMID 10212238.
• Shimozawa N, Zhang Z, Suzuki Y, Imamura A, Tsukamoto T, Osumi T, Fujiki Y, Orii T, Barth PG, Wanders RJ, Kondo N (Aug 1999). "Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients". Biochemical and Biophysical Research Communications. 262 (2): 504–8. doi:10.1006/bbrc.1999.1232. PMID 10462504.
• Chang CC, Warren DS, Sacksteder KA, Gould SJ (Nov 1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import". The Journal of Cell Biology. 147 (4): 761–74. doi:10.1083/jcb.147.4.761. PMC 2156163. PMID 10562279.
• Watters D, Kedar P, Spring K, Bjorkman J, Chen P, Gatei M, Birrell G, Garrone B, Srinivasa P, Crane DI, Lavin MF (Nov 1999). "Localization of a portion of extranuclear ATM to peroxisomes" (PDF). The Journal of Biological Chemistry. 274 (48): 34277–82. doi:10.1074/jbc.274.48.34277. hdl:10072/122346. PMID 10567403. S2CID 14334129.
• Okumoto K, Abe I, Fujiki Y (Aug 2000). "Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p". The Journal of Biological Chemistry. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID 10837480.
• Gatto GJ, Geisbrecht BV, Gould SJ, Berg JM (Dec 2000). "Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5". Nature Structural Biology. 7 (12): 1091–5. doi:10.1038/81930. PMID 11101887. S2CID 35168630.
• Harano T, Nose S, Uezu R, Shimizu N, Fujiki Y (Jul 2001). "Hsp70 regulates the interaction between the peroxisome targeting signal type 1 (PTS1)-receptor Pex5p and PTS1". The Biochemical Journal. 357 (Pt 1): 157–65. doi:10.1042/0264-6021:3570157. PMC 1221938. PMID 11415446.
• Saidowsky J, Dodt G, Kirchberg K, Wegner A, Nastainczyk W, Kunau WH, Schliebs W (Sep 2001). "The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14". The Journal of Biological Chemistry. 276 (37): 34524–9. doi:10.1074/jbc.M104647200. PMID 11438541.
• Stanley WA, Filipp FV, Kursula P, Schüller N, Erdmann R, Schliebs W, Sattler M, Wilmanns M (Dec 2006). "Recognition of a functional peroxisome type 1 target by the dynamic import receptor pex5p". Molecular Cell. 24 (5): 653–63. doi:10.1016/j.molcel.2006.10.024. PMC 5030714. PMID 17157249.

External links

• GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
• OMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum