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Aliases for PEX5 Gene

Aliases for PEX5 Gene

  • Peroxisomal Biogenesis Factor 5 2 3
  • Peroxisome Receptor 1 2 3 4
  • PTS1R 3 4 6
  • PXR1 3 4 6
  • Peroxisomal C-Terminal Targeting Signal Import Receptor 3 4
  • PTS1 Receptor 3 4
  • Peroxin-5 3 4
  • PTS1-BP 3 4
  • PBD2A 3 6
  • PBD2B 3 6
  • Peroxisomal Targeting Signal 1 (SKL Type) Receptor 3
  • Peroxisomal Targeting Signal Import Receptor 3
  • Peroxisomal Targeting Signal 1 Receptor 3
  • Peroxisomal Targeting Signal Receptor 1 3

External Ids for PEX5 Gene

Previous HGNC Symbols for PEX5 Gene

  • PXR1

Previous GeneCards Identifiers for PEX5 Gene

  • GC12P007235
  • GC12P007236
  • GC12P007341

Summaries for PEX5 Gene

Entrez Gene Summary for PEX5 Gene

  • The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX5 Gene

PEX5 (Peroxisomal Biogenesis Factor 5) is a Protein Coding gene. Diseases associated with PEX5 include peroxisome biogenesis disorder 2a and peroxisome biogenesis disorder 2b. Among its related pathways are Peroxisome. GO annotations related to this gene include enzyme binding and protein N-terminus binding. An important paralog of this gene is PEX5L.

UniProtKB/Swiss-Prot for PEX5 Gene

  • Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Gene Wiki entry for PEX5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX5 Gene

Genomics for PEX5 Gene

Regulatory Elements for PEX5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PEX5 Gene

Start:
7,188,685 bp from pter
End:
7,218,574 bp from pter
Size:
29,890 bases
Orientation:
Plus strand

Genomic View for PEX5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX5 Gene

Proteins for PEX5 Gene

  • Protein details for PEX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50542-PEX5_HUMAN
    Recommended name:
    Peroxisomal targeting signal 1 receptor
    Protein Accession:
    P50542
    Secondary Accessions:
    • A8K891
    • B4DZ45
    • B7ZAD5
    • D3DUT8
    • Q15115
    • Q15266
    • Q96FN7

    Protein attributes for PEX5 Gene

    Size:
    639 amino acids
    Molecular mass:
    70865 Da
    Quaternary structure:
    • Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked ubiquitinated) with ZFAND6.

    Three dimensional structures from OCA and Proteopedia for PEX5 Gene

    Alternative splice isoforms for PEX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX5 Gene

Proteomics data for PEX5 Gene at MOPED

Post-translational modifications for PEX5 Gene

  • Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling.
  • Ubiquitination at Lys209, Lys217, Lys456, and Lys527
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PEX5 Gene

Domains for PEX5 Gene

Gene Families for PEX5 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for PEX5 Gene

Suggested Antigen Peptide Sequences for PEX5 Gene

Graphical View of Domain Structure for InterPro Entry

P50542

UniProtKB/Swiss-Prot:

PEX5_HUMAN :
  • P50542
Family:
  • Belongs to the peroxisomal targeting signal receptor family.
Similarity:
  • Contains 7 TPR repeats.
genes like me logo Genes that share domains with PEX5: view

Function for PEX5 Gene

Molecular function for PEX5 Gene

UniProtKB/Swiss-Prot Function: Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.

Gene Ontology (GO) - Molecular Function for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000268 peroxisome targeting sequence binding IDA 18346465
GO:0005052 peroxisome matrix targeting signal-1 binding IPI 20178365
GO:0005515 protein binding IPI 10022913
GO:0008022 protein C-terminus binding IPI 10562279
GO:0019899 enzyme binding IPI 11060344
genes like me logo Genes that share ontologies with PEX5: view
genes like me logo Genes that share phenotypes with PEX5: view

Animal Models for PEX5 Gene

MGI Knock Outs for PEX5:

Animal Model Products

miRNA for PEX5 Gene

miRTarBase miRNAs that target PEX5

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PEX5 Gene

Localization for PEX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX5 Gene

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).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX5 Gene COMPARTMENTS Subcellular localization image for PEX5 gene
Compartment Confidence
cytosol 5
peroxisome 5
golgi apparatus 4
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IGI 11931631
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
GO:0005777 peroxisome IDA 11829486
GO:0005778 peroxisomal membrane IDA 21525035
genes like me logo Genes that share ontologies with PEX5: view

Pathways for PEX5 Gene

SuperPathways for PEX5 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX5: view

Pathways by source for PEX5 Gene

1 KEGG pathway for PEX5 Gene

Gene Ontology (GO) - Biological Process for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process --
GO:0001764 neuron migration --
GO:0006625 protein targeting to peroxisome IMP 9668159
GO:0006635 fatty acid beta-oxidation --
GO:0007005 mitochondrion organization --
genes like me logo Genes that share ontologies with PEX5: view

Compounds for PEX5 Gene

(7) Novoseek inferred chemical compound relationships for PEX5 Gene

Compound -log(P) Hits PubMed IDs
tripeptide 74 1
acyl-coa 63.4 1
tripeptide s 48.4 1
asparagine 26.7 1
atp 13.9 2
genes like me logo Genes that share compounds with PEX5: view

Transcripts for PEX5 Gene

Unigene Clusters for PEX5 Gene

Peroxisomal biogenesis factor 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX5

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for PEX5 Gene

GeneLoc Exon Structure for
PEX5
ECgene alternative splicing isoforms for
PEX5

Expression for PEX5 Gene

mRNA expression in normal human tissues for PEX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX5 Gene

SOURCE GeneReport for Unigene cluster for PEX5 Gene Hs.567327

mRNA Expression by UniProt/SwissProt for PEX5 Gene

P50542-PEX5_HUMAN
Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expressions with PEX5: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PEX5 Gene

Orthologs for PEX5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX5 35
  • 99.79 (n)
  • 99.84 (a)
PEX5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX5 35
  • 90.66 (n)
  • 97.18 (a)
PEX5 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX5 35
  • 93.41 (n)
  • 97.67 (a)
PEX5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex5 35
  • 89.11 (n)
  • 93.33 (a)
Pex5 16
Pex5 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX5 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX5 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex5 35
  • 89.78 (n)
  • 94.99 (a)
chicken
(Gallus gallus)
Aves PEX5 35
  • 72.77 (n)
  • 79.19 (a)
PEX5 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX5 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex5 35
  • 67.18 (n)
  • 69.34 (a)
Str.14084 35
zebrafish
(Danio rerio)
Actinopterygii pex5 35
  • 64.46 (n)
  • 65.04 (a)
pex5 36
  • 58 (a)
OneToOne
zgc56318 35
fruit fly
(Drosophila melanogaster)
Insecta Pex5 35
  • 52.68 (n)
  • 43.98 (a)
Pex5 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea prx-5 35
  • 47 (n)
  • 39.7 (a)
prx-5 36
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 21 (a)
ManyToMany
PEX5 36
  • 25 (a)
ManyToMany
PEX5 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4167 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for PEX5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX5 Gene

ENSEMBL:
Gene Tree for PEX5 (if available)
TreeFam:
Gene Tree for PEX5 (if available)

Paralogs for PEX5 Gene

Paralogs for PEX5 Gene

Pseudogenes.org Pseudogenes for PEX5 Gene

genes like me logo Genes that share paralogs with PEX5: view

Variants for PEX5 Gene

Sequence variations from dbSNP and Humsavar for PEX5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1057191 -- 7,208,549(+) TGAAA(C/T)CCTAC reference, missense
rs1057225 -- 7,210,978(+) GGGCT(C/G)TATTC utr-variant-3-prime, intron-variant
rs1135240 -- 7,190,509(+) GGAGC(A/C)CCGGC synonymous-codon, reference, upstream-variant-2KB
rs1450958 -- 7,195,859(-) GAGAC(A/G)GAAAG intron-variant
rs1802750 -- 7,211,276(+) CATGG(G/T)GAGAT utr-variant-3-prime, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX5 Gene

Variant ID Type Subtype PubMed ID
nsv832325 CNV Gain+Loss 17160897
esv2745482 CNV Deletion 23290073
esv2745483 CNV Deletion 23290073
esv28301 CNV Gain 19812545
nsv821591 CNV Deletion 20802225
esv2407960 CNV Deletion 18987734
esv2745484 CNV Deletion 23290073
esv2745485 CNV Deletion 23290073
esv1740647 CNV Deletion 17803354
esv2745487 CNV Deletion 23290073
esv1262217 CNV Deletion 17803354
esv1200098 CNV Deletion 17803354
esv1245276 CNV Deletion 17803354

Relevant External Links for PEX5 Gene

HapMap Linkage Disequilibrium report
PEX5
Human Gene Mutation Database (HGMD)
PEX5
Locus Specific Mutation Databases (LSDB)
PEX5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX5 Gene

Disorders for PEX5 Gene

(2) OMIM Diseases for PEX5 Gene (600414)

UniProtKB/Swiss-Prot

PEX5_HUMAN
  • Peroxisome biogenesis disorder 2A (PBD2A) [MIM:214110]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:10462504, ECO:0000269 PubMed:7719337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) Novoseek inferred disease relationships for PEX5 Gene

Disease -log(P) Hits PubMed IDs
peroxisome biogenesis disorders 93.1 6
zellweger syndrome 87 6
adrenoleukodystrophy neonatal 79.9 2
peroxisomal disorders 77.1 3

Relevant External Links for PEX5

GeneTests
PEX5
GeneReviews
PEX5
genes like me logo Genes that share disorders with PEX5: view

Publications for PEX5 Gene

  1. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. (PMID: 7719337) Dodt G. … Gould S.J. (Nat. Genet. 1995) 3 4 23
  2. Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. (PMID: 7790377) Wiemer E.A.C. … Subramani S. (J. Cell Biol. 1995) 3 4 23
  3. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. (PMID: 10462504) Shimozawa N. … Kondo N. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  4. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PMID: 10562279) Chang C.C. … Gould S.J. (J. Cell Biol. 1999) 3 4 23
  5. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5. (PMID: 11101887) Gatto G.J. Jr. … Berg J.M. (Nat. Struct. Biol. 2000) 3 4 23

Products for PEX5 Gene

Sources for PEX5 Gene

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