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PEX5

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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 IDsOMIM: 600414; MGI: 1098808; HomoloGene: 270; GeneCards: PEX5; OMA:PEX5 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr. Chromosome 12 (human) [1]
Band 12p13.31Start7,188,685 bp [1]
End7,218,574 bp [1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr. Chromosome 6 (mouse)[2]
Band 6 F2|6 59.15 cMStart124,373,775 bp [2]
End124,392,026 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • gastrocnemius muscle

  • left testis

  • right testis

  • C1 segment

  • skeletal muscle tissue

  • substantia nigra

  • prefrontal cortex

  • putamen

  • hippocampus proper

  • right frontal lobe
  • 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


Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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

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

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

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PEX5 has been shown to interact with PEX12,[6] [7] PEX13 [8] [9] and PEX14.[7] [9] [10]

References

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  1. ^ a b c ENSG00000288217 GRCh38: Ensembl release 89: ENSG00000139197, ENSG00000288217Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000005069Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: PEX5 Peroxisomal biogenesis factor 5".
  6. ^ 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.
  7. ^ a b 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.
  8. ^ 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.
  9. ^ a b Otera H, Setoguchi K, Hamasaki M, Kumashiro T, Shimizu N, Fujiki Y (Mar 2002). "Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import". Molecular and Cellular Biology. 22 (6): 1639–55. doi:10.1128/MCB.22.6.1639-1655.2002. PMC 135613 . PMID 11865044.
  10. ^ 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.

Further reading

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