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PEX5 Gene

protein-coding   GIFtS: 63
GCID: GC12P007341

Peroxisomal Biogenesis Factor 5

(Previous name: peroxisome receptor 1)
(Previous symbol: PXR1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Peroxisomal Biogenesis Factor 51 2     PBD2B2 5
PXR11 2 3 5     peroxin-52
Peroxisome Receptor 11 2 3     Peroxisomal Targeting Signal 1 (SKL Type) Receptor2
PTS1R2 3 5     Peroxisomal Targeting Signal 1 Receptor2
Peroxisomal C-Terminal Targeting Signal Import Receptor2 3     Peroxisomal Targeting Signal Import Receptor2
PTS1-BP2 3     Peroxisomal Targeting Signal Receptor 12
PTS1 Receptor2 3     Peroxin-53
PBD2A2 5     

External Ids:    HGNC: 97191   Entrez Gene: 58302   Ensembl: ENSG000001391977   OMIM: 6004145   UniProtKB: P505423   

Export aliases for PEX5 gene to outside databases

Previous GC identifers: GC12P007235 GC12P007236


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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: PEX5_HUMAN, P50542
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PEX5 gene promoter:
         NRSF form 1   FOXJ2   STAT5A   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX5 promoter sequence
   Search Chromatin IP Primers for PEX5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEX5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p

PEX5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007341:  view genomic region     (about GC identifiers)

Start:
7,341,281 bp from pter      End:
7,371,170 bp from pter
Size:
29,890 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542 (See protein sequence)
Recommended Name: Peroxisomal targeting signal 1 receptor  
Size: 639 amino acids; 70865 Da
Subunit: Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked
ubiquitinated) with ZFAND6
Selected PDB 3D structures from and Proteopedia for PEX5 (see all 7):
1FCH (3D)        2C0L (3D)        2C0M (3D)        2J9Q (3D)        2W84 (3D)        3R9A (3D)    
Secondary accessions: A8K891 B4DZ45 B7ZAD5 D3DUT8 Q15115 Q15266 Q96FN7
Alternative splicing: 4 isoforms:  P50542-1   P50542-2   P50542-3   P50542-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PEX5: NX_P50542

Explore proteomics data for PEX5 at MOPED

Post-translational modifications: 

  • Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling (By similarity)1
  • Ubiquitination2 at Lys209, Lys217, Lys456, Lys527
  • Modification sites at PhosphoSitePlus

  • See PEX5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000310.2  NP_001124495.1  NP_001124496.1  NP_001124497.1  NP_001124498.1  

    ENSEMBL proteins: 
     ENSP00000441553   ENSP00000439025   ENSP00000400647   ENSP00000438494   ENSP00000266563  
     ENSP00000438772   ENSP00000407401   ENSP00000440833   ENSP00000443500   ENSP00000410159  
     ENSP00000391601   ENSP00000379877   ENSP00000445630   ENSP00000437938   ENSP00000266564  
     ENSP00000440711   ENSP00000444787  

    PEX5 Human Recombinant Protein Products:

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    OriGene Purified Protein for PEX5
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    GenScript Custom Purified and Recombinant Proteins Services for PEX5
    Novus Biologicals PEX5 Protein
    Novus Biologicals PEX5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX5

    PEX5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals PEX5 Antibodies
    Abcam antibodies for PEX5
    Cloud-Clone Corp. Antibodies for PEX5
    ThermoFisher Antibody for PEX5
    LSBio Antibodies in human, mouse, rat for PEX5

    PEX5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PEX5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PEX5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PEX5
    Cloud-Clone Corp. CLIAs for PEX5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001440 TPR_1
     IPR024111 PTS1R_family
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry P50542

    ProtoNet protein and cluster: P50542

    UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542
    Similarity: Belongs to the peroxisomal targeting signal receptor family
    Similarity: Contains 7 TPR repeats


    PEX5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEX5_HUMAN, P50542
    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): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000268peroxisome targeting sequence binding IDA18346465
    GO:0005052peroxisome matrix targeting signal-1 binding IPI--
    GO:0005515protein binding IPI10022913
    GO:0008022protein C-terminus binding IPI10562279
    GO:0019899enzyme binding IPI11060344
         
    PEX5 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pex5) (see all 18):
     behavior/neurological  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  renal/urinary system  reproductive system 

    PEX5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pex5tm1Baes for PEX5

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEX5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PEX5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX5

    miRNA
    Products:
        
    miRTarBase miRNAs that target PEX5:
    hsa-mir-25-3p (MIRT050249), hsa-mir-22-3p (MIRT050469)

    Block miRNA regulation of human, mouse, rat PEX5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX5 (see all 40):
    hsa-miR-3685 hsa-miR-361-5p hsa-miR-126 hsa-miR-4328 hsa-miR-15a hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidPEX5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PEX5
    Predesigned siRNA for gene silencing in human, mouse, rat PEX5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PEX5

    Clone
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    OriGene clones in human, mouse for PEX5 (see all 28)
    OriGene ORF clones in mouse, rat for PEX5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): PEX5 (NM_001131025)
    Sino Biological Human cDNA Clone for PEX5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX5

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PEX5
    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PEX5_HUMAN, P50542: 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: 

    CompartmentConfidence
    cytosol5
    peroxisome5
    golgi apparatus4
    mitochondrion2
    nucleus2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IGI11931631
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA11829486
    GO:0005778peroxisomal membrane IDA--

    PEX5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PEX5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for PEX5):
        Peroxisome


    PEX5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX5
    Interactions:

        GeneGlobe Interaction Network for PEX5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PEX5 (P505421, 2, 3 ENSP000004074014) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX14O753811, 2, 3, ENSP000003490164EBI-597835,EBI-594898 MINT-7231073 MINT-7231117 MINT-7231103 MINT-15777 MINT-15776 MINT-7231169 MINT-7231399 MINT-7231152 MINT-7231131 MINT-7231036 MINT-7231186 MINT-7231089 I2D: score=5 STRING: ENSP00000349016
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000038very long-chain fatty acid metabolic process IEA--
    GO:0001764neuron migration IEA--
    GO:0006625protein targeting to peroxisome IMP9668159
    GO:0006635fatty acid beta-oxidation IEA--
    GO:0007005mitochondrion organization ----

    PEX5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PEX5

    7 Novoseek inferred chemical compound relationships for PEX5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tripeptide 74 1 17007944 (1)
    acyl-coa 63.4 1 10462504 (1)
    tripeptide s 48.4 1 9837948 (1)
    asparagine 26.7 1 8769411 (1)
    atp 13.9 2 12456682 (1), 16314507 (1)
    lipid 0 1 16849337 (1)
    zinc 0 3 10562279 (2)



    PEX5 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PEX5 gene (5 alternative transcripts): 
    NM_000319.4  NM_001131023.1  NM_001131024.1  NM_001131025.1  NM_001131026.1  

    Unigene Cluster for PEX5:

    Peroxisomal biogenesis factor 5
    Hs.567327  [show with all ESTs]
    Unigene Representative Sequence: NM_001131025
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000536883 ENST00000542539 ENST00000455147(uc009zfu.2) ENST00000540398
    ENST00000266563(uc001qsu.3) ENST00000543974 ENST00000545220 ENST00000434354
    ENST00000544456 ENST00000545574 ENST00000420616 ENST00000412720 ENST00000396637
    ENST00000535486 ENST00000536841 ENST00000537873 ENST00000266564(uc001qsw.3 uc010sgc.2 uc010sgd.2 uc001qsv.3)
    ENST00000545845
    miRNA
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    Block miRNA regulation of human, mouse, rat PEX5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX5 (see all 40):
    hsa-miR-3685 hsa-miR-361-5p hsa-miR-126 hsa-miR-4328 hsa-miR-15a hsa-miR-513a-5p hsa-miR-485-3p hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidPEX5 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PEX5
    Predesigned siRNA for gene silencing in human, mouse, rat PEX5
    Clone
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    OriGene clones in human, mouse for PEX5 (see all 28)
    OriGene ORF clones in mouse, rat for PEX5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): PEX5 (NM_001131025)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX5
    Primer
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    OriGene qPCR primer pairs and template standards for PEX5
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX5
      QuantiTect SYBR Green Assays in human, mouse, rat PEX5
      QuantiFast Probe-based Assays in human, mouse, rat PEX5

    Additional mRNA sequence: 

    AK225126.1 AK292256.1 AK299105.1 AK299534.1 AK301700.1 AK302742.1 AK303515.1 AK312317.1 
    AK316250.1 BC010621.2 U19721.1 X84899.1 Z48054.1 

    8 DOTS entries:

    DT.100817774  DT.95092209  DT.91646130  DT.70105337  DT.121151451  DT.95092229  DT.453875  DT.97857237 

    Selected AceView cDNA sequences (see all 176):

    BI758042 BC010621 F01771 AA738481 AA351600 AW950952 AW007243 BE894853 
    AA351578 AW073348 BI821253 BM797047 BX280495 AL120949 BM973011 Z38232 
    T08345 AW504611 N68515 BI869282 BU617582 CK818857 T32266 BQ439128 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PEX5    About this scheme

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


    ECgene alternative splicing isoforms for PEX5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PEX5 expression in normal human tissues (normalized intensities)      PEX5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCCCAGGAT
    PEX5 Expression
    About this image


    PEX5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    PEX5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567327

    UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542
    Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

        Custom PCR Arrays for PEX5
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    QuantiTect SYBR Green Assays in human, mouse, rat PEX5
    QuantiFast Probe-based Assays in human, mouse, rat PEX5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PEX5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex51 , 5 peroxisomal biogenesis factor 51, 5 89.11(n)1
    93.33(a)1
      6 (59.15 cM)5
    193051  NM_001277330.11  NP_001264259.11 
     1243968175 
    chicken
    (Gallus gallus)
    Aves PEX51 peroxisomal biogenesis factor 5 72.77(n)
    79.19(a)
      418299  NM_001012818.1  NP_001012836.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX56
    peroxisomal biogenesis factor 5
    79(a)
    1 ↔ 1
    GL343218.1(232728-257346)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.140842 Transcribed sequence with moderate similarity to protein more 72.73(n)    BX714648.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563182 similar to peroxisome receptor 1 78.08(n)   394131  BC046070.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pex51 Peroxin 5 52.68(n)
    43.98(a)
      31141  NM_130593.4  NP_569949.3 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-51 prx-5 47(n)
    39.7(a)
      174392  NM_001026849.1  NP_001022020.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX5(YDR244W)4 Peroxisomal membrane signal receptor for the C-terminal more   --   4(950563-952401) 851831  NP_010530.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PEX5 gene
    PEX5L2  
    2 SIMAP similar genes for PEX5 using alignment to 13 protein entries:     PEX5_HUMAN (see all proteins):
    PXR1    PEX5L

    PEX5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PEX5
    PGOHUM00000244539


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PEX5 (see all 944)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0313284
    Peroxisome biogenesis disorder 2B (PBD2B)4--see VAR_0313282 S W mis40--------
    VAR_0075434
    Peroxisome biogenesis disorder 2B (PBD2B)4--see VAR_0075432 N K mis40--------
    rs617521371,2
    Cpathogenic17361150(+) CCCTAC/TGAGAC 10 R * stg10--------
    rs617521381,2
    Cpathogenic17362296(+) TGGAAG/TAAGCT 10 K N mis10--------
    rs1500666321,2
    --7256341(+) GTACAG/TAGTAG 1 -- ds50010--------
    rs1932525561,2
    C--7339770(+) ATAAGA/TATTTG 1 -- us2k10--------
    rs1491042131,2
    C--7339805(+) ATCAA-/AAGAAGAA 1 -- us2k10--------
    rs1857266181,2
    --7339814(+) AGAAGA/CATATT 1 -- us2k10--------
    rs1888888851,2
    --7339816(+) AAGAAG/TATTTT 1 -- us2k10--------
    rs1391004131,2
    C--7340124(+) GATAA-/TAGT  
            
    TATTA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PEX5 (7341281 - 7371170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PEX5 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1262217CNV Deletion17803354
    nsv821591CNV Deletion20802225
    esv1740647CNV Deletion17803354
    esv1200098CNV Deletion17803354
    esv2407960CNV Deletion18987734
    esv2745482CNV Deletion23290073
    esv2745485CNV Deletion23290073
    esv2745483CNV Deletion23290073
    esv1245276CNV Deletion17803354
    esv2745487CNV Deletion23290073

    Human Gene Mutation Database (HGMD): PEX5
    Locus Specific Mutation Databases (LSDB): PEX5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX5
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600414   
    OMIM disorders: 214110  202370  
    UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for PEX5 (see all 29):    About MalaCards
    peroxisome biogenesis disorder 2b    peroxisome biogenesis disorder 2a    infantile refsum disease    primary hyperoxaluria type 1
    neonatal adrenoleukodystrophy    adrenoleukodystrophy    mulibrey nanism    refsum disease
    zellweger spectrum    peroxisome biogenesis disorders, zellweger syndrome spectrum    peroxisome disorders    hawkinsinuria
    zellweger syndrome    rhizomelic chondrodysplasia punctata    primary hyperoxaluria    chondrodysplasia
    sensorineural hearing loss    hypotonia    glaucoma    cerebritis

    4 diseases from the University of Copenhagen DISEASES database for PEX5:
    Rhizomelic chondrodysplasia punctata     Zellweger syndrome     Mulibrey nanism     Adrenoleukodystrophy

    PEX5 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for PEX5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peroxisome biogenesis disorders 93.1 6 8670792 (1), 9668159 (1), 18712838 (1), 16314507 (1) (see all 6)
    zellweger syndrome 87 7 11583975 (2), 11161709 (1), 11939592 (1), 7790377 (1) (see all 5)
    adrenoleukodystrophy neonatal 79.9 2 8769411 (1), 7790377 (1)
    peroxisomal disorders 77.1 3 8791450 (1), 11161709 (1), 7790377 (1)

    GeneTests: PEX5
    GeneReviews: PEX5

    Export disorders for PEX5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PEX5 gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with PEX5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PubMed id 10562279)1, 2, 9 Chang C.C.... Gould S.J. (J. Cell Biol. 1999)
    2. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. (PubMed id 7719337)1, 2, 9 Dodt G.... Gould S.J. (Nat. Genet. 1995)
    3. Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders. (PubMed id 7790377)1, 2, 9 Wiemer E.A.C.... Subramani S. (J. Cell Biol. 1995)
    4. The di-aromatic pentapeptide repeats of the human peroxisome import receptor PEX5 are separate high affinity binding sites for the peroxisomal membrane protein PEX14. (PubMed id 11438541)1, 2, 9 Saidowsky J.... Schliebs W. (J. Biol. Chem. 2001)
    5. Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5. (PubMed id 11101887)1, 2, 9 Gatto G.J. Jr.... Berg J.M. (Nat. Struct. Biol. 2000)
    6. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PubMed id 19197237)1, 2, 9 Neufeld C....Sattler M. (EMBO J. 2009)
    7. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. (PubMed id 10462504)1, 2, 9 Shimozawa N.... Kondo N. (Biochem. Biophys. Res. Commun. 1999)
    8. A previously unobserved conformation for the human Pex5p receptor suggests roles for intrinsic flexibility and rigid domain motions in ligand binding. (PubMed id 17428317)1, 2 Stanley W.A....Kursula P. (BMC Struct. Biol. 2007)
    9. Recognition of a functional peroxisome type 1 target by the dynamic import receptor Pex5p. (PubMed id 17157249)1, 2 Stanley W.A.... Wilmanns M. (Mol. Cell 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5830 HGNC: 9719 AceView: PEX5 Ensembl:ENSG00000139197 euGenes: HUgn5830
    ECgene: PEX5 Kegg: 5830 H-InvDB: PEX5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PEX5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX5[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PEX5 gene:
    Search GeneIP for patents involving PEX5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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