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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PEX5 Gene

protein-coding   GIFtS: 62
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)
About This Section

Aliases
Peroxisomal Biogenesis Factor 51 2     PBD2B2
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     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neonatal adrenoleukodystrophy, and infantile refsum disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PEX5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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)
6 PDB 3D structures from and Proteopedia for PEX5:
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50542

  • PEX5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX5 Protein Expression
    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  

    Human Recombinant Protein Products for PEX5: 
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    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 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion ----
    GO:0005777peroxisome IDA11829486
    GO:0005778peroxisomal membrane IDA--
    GO:0005782peroxisomal matrix IDA11336669

    PEX5 for ontologies           About GeneDecksing



    PEX5 Antibody Products: 
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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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:
         15/18 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  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 - Custom generated mouse model solutions for PEX5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX5 
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    miRNA
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    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:
        
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 5): PEX5 (NM_001131025)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5
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                         Customized lentivirus expression plasmids for stable overexpression of PEX5 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX5

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

    5/60 Interacting proteins for PEX5 (P505421, 2, 3 ENSP000004074014) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX14O753812, 3, ENSP000003490164MINT-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): 5/20 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PEX5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about PEX5

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/20 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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    8/40 QIAGEN miScript miRNA 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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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5
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      QIAGEN 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 

    24/176 AceView cDNA sequences (see all 176):

    AW950952 BP348904 BX280495 AL120949 X84899 AW504611 CR606696 AA873073 
    AL561558 T08345 AA653276 Z38232 BI758042 F01771 AA351578 BU617582 
    BC010621 BI869282 AW073348 BQ439128 AA351600 CR624220 CK818857 T32266 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/34 selected tissues (see all 34) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             prefrontal cortex   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See PEX5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX5

    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

        SABiosciences Custom PCR Arrays for PEX5
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX5
    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PEX5 gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex51 , 5 peroxisomal biogenesis factor 51, 5 89.9(n)1
    94.03(a)1
      6 (59.15 cM)5
    193051  NM_008995.21  NP_033021.21 
     1243968175 
    chicken
    (Gallus gallus)
    Aves PEX51 peroxisomal biogenesis factor 5 72.87(n)
    79.5(a)
      418299  NM_001012818.1  NP_001012836.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX56
    Uncharacterized protein
    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 CG148151 CG14815 53.37(n)
    43.97(a)
      31141  NM_130593.3  NP_569949.3 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-51 Protein PRX-5 46.42(n)
    38.24(a)
      174392  NM_001026848.3  NP_001022019.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX5(YDR244W)4
    PEX51
    Peroxisomal membrane signal receptor for the C-terminal more4
    Pex5p1
    42.66(n)1
    30.53(a)1
      4(950563-952401)4
    8518311, 4  NP_010530.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PEX51 peroxin 5 48.1(n)
    37.4(a)
      835728  NM_125012.4  NP_200440.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05001001 hypothetical protein 46.87(n)
    36.35(a)
      4345945  NM_001068688.1  NP_001062153.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/944 SNPs in PEX5 are shown (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) 10/13 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 600414   
    OMIM disorders: 202370  214100  
    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

  • 18 diseases for PEX5:    About MalaCards
    neonatal adrenoleukodystrophy    infantile refsum disease    peroxisome biogenesis disorders    adrenoleukodystrophy
    mulibrey nanism    refsum disease    peroxisome disorders    zellweger spectrum
    zellweger syndrome    craniofacial abnormalities    rhizomelic chondrodysplasia punctata    chondrodysplasia
    hypotonia    sensorineural hearing loss    glaucoma    cerebritis
    retinitis    neuronitis

    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)
    About This Section

    PubMed articles for PEX5 gene, integrated from 9 sources (see all 117):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 5830 HGNC: 9719 AceView: PEX5 Ensembl:ENSG00000139197 euGenes: HUgn5830
    ECgene: PEX5 Kegg: 5830 H-InvDB: PEX5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PEX5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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