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Aliases for PEX5 Gene

Aliases for PEX5 Gene

  • Peroxisomal Biogenesis Factor 5 2 3 5
  • Peroxisome Receptor 1 2 3 4
  • Peroxisomal C-Terminal Targeting Signal Import Receptor 3 4
  • PTS1 Receptor 3 4
  • Peroxin-5 3 4
  • PTS1-BP 3 4
  • PTS1R 3 4
  • PXR1 3 4
  • 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
  • PBD2A 3
  • PBD2B 3
  • RCDP5 3

External Ids for PEX5 Gene

Previous HGNC Symbols for PEX5 Gene

  • PXR1

Previous GeneCards Identifiers for PEX5 Gene

  • GC12P007235
  • GC12P007236
  • GC12P007341
  • GC12P007199
  • GC12P007246

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 2b and peroxisome biogenesis disorder 2a. 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

Promoters for PEX5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX5 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX5 Gene

Chromosome:
12
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

Genes around PEX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 209, Lys 217, Lys 456, and Lys 527
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PEX5 (PEX5)

No data available for DME Specific Peptides for PEX5 Gene

Domains & Families for PEX5 Gene

Protein Domains for PEX5 Gene

Graphical View of Domain Structure for InterPro Entry

P50542

UniProtKB/Swiss-Prot:

PEX5_HUMAN :
  • Belongs to the peroxisomal targeting signal receptor family.
  • Contains 7 TPR repeats.
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:0008022 protein C-terminus binding IPI 10562279
GO:0031267 small GTPase binding IPI 18346465
genes like me logo Genes that share ontologies with PEX5: view
genes like me logo Genes that share phenotypes with PEX5: view

Human Phenotype Ontology for PEX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX5 Gene

MGI Knock Outs for PEX5:

miRNA for PEX5 Gene

miRTarBase miRNAs that target PEX5

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IMP 9668159
genes like me logo Genes that share ontologies with PEX5: view

Pathways & Interactions 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:0001764 neuron migration IEA --
GO:0006625 protein targeting to peroxisome IMP 9668159
GO:0007005 mitochondrion organization IEA --
GO:0007006 mitochondrial membrane organization IEA --
GO:0016558 protein import into peroxisome matrix NAS 10514471
genes like me logo Genes that share ontologies with PEX5: view

No data available for SIGNOR curated interactions for PEX5 Gene

Drugs & Compounds for PEX5 Gene

(3) Drugs for PEX5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PEX5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for PEX5 Gene

This gene is overexpressed in Bone (34.3) and Fetal Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PEX5: view

Protein tissue co-expression partners for PEX5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 36
  • 97 (a)
OneToOne
PEX5 35
  • 90.66 (n)
  • 97.18 (a)
dog
(Canis familiaris)
Mammalia PEX5 35
  • 93.41 (n)
  • 97.67 (a)
PEX5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex5 16
Pex5 36
  • 94 (a)
OneToOne
Pex5 35
  • 89.11 (n)
  • 93.33 (a)
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 36
  • 79 (a)
OneToOne
PEX5 35
  • 72.77 (n)
  • 79.19 (a)
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 36
  • 58 (a)
OneToOne
pex5 35
  • 64.46 (n)
  • 65.04 (a)
zgc56318 35
fruit fly
(Drosophila melanogaster)
Insecta Pex5 36
  • 35 (a)
OneToMany
Pex5 35
  • 52.68 (n)
  • 43.98 (a)
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
VAR_007543 Peroxisome biogenesis disorder 2B (PBD2B)
VAR_031328 Peroxisome biogenesis disorder 2B (PBD2B)
rs1057191 -- 7,208,549(+) TGAAA(A/C/T)CCTAC reference, missense
rs1057225 -- 7,210,978(+) GGGCT(C/G)TATTC intron-variant, utr-variant-3-prime
rs1450958 -- 7,195,859(-) GAGAC(A/G)GAAAG 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

Variation tolerance for PEX5 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX5 Gene

HapMap Linkage Disequilibrium report
PEX5
Human Gene Mutation Database (HGMD)
PEX5

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

Disorders for PEX5 Gene

MalaCards: The human disease database

(25) MalaCards diseases for PEX5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 2b
  • pbd2b
peroxisome biogenesis disorder 2a
  • pbd2a
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic
chondrodysplasia punctata, rhizomelic, type 1
  • rhizomelic chondrodysplasia punctata, type 1
peroxisome biogenesis disorder 1b
  • infantile refsum disease
- elite association - COSMIC cancer census association via MalaCards
Search PEX5 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PEX5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX5
genes like me logo Genes that share disorders with PEX5: view

No data available for Genatlas for PEX5 Gene

Publications for PEX5 Gene

  1. 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 67
  2. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PMID: 19197237) Neufeld C. … Sattler M. (EMBO J. 2009) 3 23
  3. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. (PMID: 18712838) Ebberink M.S. … Waterham H.R. (Hum. Mutat. 2009) 3 23
  4. Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. (PMID: 17317787) Shepard A.R. … Clark A.F. (Hum. Mol. Genet. 2007) 3 23
  5. The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain. (PMID: 16403517) Carvalho A.F. … Azevedo J.E. (J. Mol. Biol. 2006) 3 23

Products for PEX5 Gene

Sources for PEX5 Gene

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