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

PEX5 Gene

protein-coding   GIFtS: 59
GCID: GC12P007341

peroxisomal biogenesis factor 5

(Previous name: peroxisome receptor 1 )
(Previous symbol: PXR1)
 Explore 22 diseases affiliated with
PEX5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PEX5    

Aliases
for PEX5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Peroxisomal Biogenesis Factor 51 2     PBD2B2
PTS1R1 2 3 5     Peroxin-53
PXR11 2 3 5     Peroxisomal Targeting Signal 1 (SKL Type) Receptor2
Peroxisome Receptor 11 2 3     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


Summaries
for PEX5 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
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 plasmid: PEX5 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

Proteins
for PEX5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P50542

    • PEX5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals PEX5 Protein
    Novus Biologicals PEX5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PEX5

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA11829486
    GO:0005778peroxisomal membrane IDA--


    PEX5 for ontologies           About GeneDecksing



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    Uscn Antibodies for PEX5
    ThermoFisher Antibody for PEX5

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    Uscn ELISAs and CLIAs for PEX5

    Protein Domains /
    Families
    for PEX5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PEX5 for domains           About GeneDecksing

    5 InterPro domains/families:
     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


    Function
    for PEX5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 5): PEX5
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX5
    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 plasmid: PEX5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX5 (see all 4)
    OriGene shRNA RFP: PEX5
    OriGene siRNA: PEX5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX5

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX5 

    Cell Line
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    Search LifeMap BioReagents cell lines for PEX5

    In Situ Assay
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    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 IPI10562279
    GO:0008022protein C-terminus binding IPI10562279
    GO:0019899enzyme binding IPI11060344


    PEX5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Pex5tm1Baes for PEX5
         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


    Pathways & Interactions
    for PEX5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Peroxisome
    		Peroxisome1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/51 Interacting proteins for PEX5 (P505421, 2, 3 ENSP000004074014) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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
    PEX12O006231, 2, 3, ENSP000002258734EBI-597835,EBI-594836 MINT-17392 I2D: score=5 STRING: ENSP00000225873
    SNUPNO951492, 3, ENSP000003098314MINT-63270 I2D: score=4 STRING: ENSP00000309831
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    NUDT3O959892, 3, ENSP000003516504MINT-8264943 I2D: score=2 STRING: ENSP00000351650
    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



    Drugs & Compounds
    for PEX5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for PEX5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

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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 plasmid: PEX5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX5 (see all 4)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX5
    Clone
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    Additional cDNA 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):

    BQ439128 BU617582 CK818857 AW950952 T08345 X84899 BI821253 T16317 
    AW073348 BI869282 BE894853 AL079967 BP348904 AL120949 BX280495 Z38232 
    BM797047 AA351578 W39074 N68515 AW007243 AI869307 BI758042 AA738481 

    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

    Expression
    for PEX5 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCCCAGGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    Assay Products:     
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    Orthologs
    for PEX5 gene

    (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 10/30 species (see all 30)    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
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343218.1(233526-255957)
    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
    for PEX5 gene

    (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


    Genomic Variants
    for PEX5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/725 NCBI SNPs in PEX5 are shown (see all 725)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs617521371,2
    		Cpathogenic7361150(+) CCCTAC/TGAGAC 10 R * stg10--------
    rs617521381,2
    		Cpathogenic7362296(+) TGGAAG/TAAGCT 10 K N mis10--------
    rs1932525561,2
    		--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--------
    rs1427987501,2
    		--7340187(+) AAACAA/GTGCCT 1 -- us2k10--------
    rs1474164091,2
    		--7340288(+) TAAAAA/GTTACT 4 -- us2k10--------
    rs1816172281,2
    		--7340569(+) CCATCC/TGATTT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for PEX5 (7341281 - 7371170 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for PEX5
         1 CNV: 71452
         2 Indels: 25062 45078
    Human Gene Mutation Database (HGMD): PEX5

    Locus Specific Mutation Databases (LSDB): PEX5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEX5
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX5

    Disorders / Diseases
    for PEX5 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PEX5 for disorders           About GeneDecksing

    OMIM gene information: 600414   
    OMIM disorders: 202370  214100  
    UniProtKB/Swiss-Prot: PEX5_HUMAN, P50542
  • Defects in PEX5 are the cause of 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
  • Defects in PEX5 are the cause of 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

    20/22 diseases for PEX5 (see all 22):    About MalaCards
    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    infantile refsum disease    peroxisome biogenesis factor
    neonatal adrenoleukodystrophy    zellweger syndrome    refsum disease    adrenoleukodystrophy
    peroxisome biogenesis disorders (pbd)    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    mulibrey nanism
    zellweger syndrome spectrum    chondrodysplasia    glaucoma    hypotonia
    osteoporosis    colon carcinoma    cerebritis    cholesterol

    4 diseases from the University of Copenhagen DISEASES database for PEX5:
    Zellweger syndrome     Rhizomelic chondrodysplasia punctata     Infantile refsum disease     Adrenoleukodystrophy

    4 Novoseek 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
    Zellweger Syndrome Spectrum


    Export disorders for PEX5 gene to outside databases

    Publications
    for PEX5 gene

    (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 112):
    (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)

    External Searches for PEX5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PEX5 gene

    (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

    Other Databases showing PEX5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PEX5 gene

    (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

    Intellectual Property
    for PEX5 gene

    (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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