PEX5

Peroxisomal targeting signal 1 receptor (PTS1R) is a protein that in humans is encoded by the PEX5 gene.^[5]

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)[1] Band 12p13.31 Start 7,188,685 bp[1] End 7,218,574 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F2|6 59.15 cM Start 124,373,775 bp[2] End 124,392,026 bp[2]
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 [3] [4]
Wikidata
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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,^[6][7] PEX13^[8][9] and PEX14.^[7][9][10]