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PEX3 Gene

protein-coding   GIFtS: 62
GCID: GC06P143772

Peroxisomal Biogenesis Factor 3

  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 31 2     peroxin-32
Peroxisomal Assembly Protein PEX32 3     Transformation-Related Protein 182
PBD10A2 5     Peroxin-33
TRG182     

External Ids:    HGNC: 88581   Entrez Gene: 85042   Ensembl: ENSG000000346937   OMIM: 6031645   UniProtKB: P565893   

Export aliases for PEX3 gene to outside databases

Previous GC identifers: GC06P143395 GC06P143619 GC06P143752 GC06P143813 GC06P141335


(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 PEX3 Gene:
The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles
before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS).
(provided by RefSeq, Oct 2008)

GeneCards Summary for PEX3 Gene:
PEX3 (peroxisomal biogenesis factor 3) is a protein-coding gene. Diseases associated with PEX3 include peroxisome biogenesis disorder 10a, and zellweger syndrome. GO annotations related to this gene include lipid binding and protein dimerization activity.

UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
Function: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix
proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane
proteins in the peroxisomes

Gene Wiki entry for PEX3 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_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PEX3 gene promoter:
         GR   Sox5   GR-beta   FOXO3   LCR-F1   GATA-1   FOXO3b   HFH-1   FOXO3a   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX3 promoter sequence
   Search Chromatin IP Primers for PEX3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEX3


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

Entrez Gene cytogenetic band: 6q24.2   Ensembl cytogenetic band:  6q24.2   HGNC cytogenetic band: 6q24.2

PEX3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX3 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P143772:  view genomic region     (about GC identifiers)

Start:
143,771,918 bp from pter      End:
143,811,753 bp from pter
Size:
39,836 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: PEX3_HUMAN, P56589 (See protein sequence)
Recommended Name: Peroxisomal biogenesis factor 3  
Size: 373 amino acids; 42140 Da
Subunit: Interacts with PEX19
2 PDB 3D structures from and Proteopedia for PEX3:
3AJB (3D)        3MK4 (3D)    
Secondary accessions: Q6FGP5

Explore the universe of human proteins at neXtProt for PEX3: NX_P56589

Explore proteomics data for PEX3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys100, Lys262
  • Modification sites at PhosphoSitePlus

  • See PEX3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003621.1  
    ENSEMBL proteins: 
     ENSP00000356564   ENSP00000356563  
    Reactome Protein details: P56589

    PEX3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PEX3
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    Novus Biologicals PEX3 Proteins
    Novus Biologicals PEX3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX3

    PEX3 Antibody Products:

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    Novus Biologicals PEX3 Antibodies
    Search for Antibodies for PEX3 at Abcam
    Cloud-Clone Corp. Antibodies for PEX3
    Search ThermoFisher Antibodies for PEX3
    LSBio Antibodies in human, mouse, rat for PEX3

    PEX3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PEX3
    Cloud-Clone Corp. CLIAs for PEX3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR006966 Peroxin-3

    Graphical View of Domain Structure for InterPro Entry P56589

    ProtoNet protein and cluster: P56589

    1 Blocks protein domain: IPB006966 Peroxin-3

    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
    Similarity: Belongs to the peroxin-3 family


    PEX3 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: PEX3_HUMAN, P56589
    Function: Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix
    proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane
    proteins in the peroxisomes

         Genatlas biochemistry entry for PEX3:
    peroxin 3,peroxisomal biogenesis factor 3

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10704444
    GO:0008289lipid binding IDA19715730
    GO:0046983protein dimerization activity IDA19715730
         
    PEX3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PEX3:
     G0/1 arrest  Increased G1 DNA content 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pex3):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  reproductive system  skeleton 
     vision/eye 

    PEX3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEX3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PEX3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX3

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PEX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX3 (see all 39):
    hsa-miR-548j hsa-miR-607 hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-30a hsa-miR-3658 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PEX3
    Predesigned siRNA for gene silencing in human, mouse, rat PEX3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PEX3

    Clone
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    OriGene clones in human, mouse for PEX3 (see all 9)
    OriGene ORF clones in mouse, rat for PEX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PEX3 (NM_003630)
    Sino Biological Human cDNA Clone for PEX3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX3


    (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
    PEX3_HUMAN, P56589: Peroxisome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    peroxisome5
    nucleus4
    cytosol2
    extracellular1
    mitochondrion1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005777peroxisome IMP12924628
    GO:0005778peroxisomal membrane TAS--
    GO:0005779integral component of peroxisomal membrane IDA10430017

    PEX3 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 PEX3 About    
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABCA transporters in lipid homeostasis0.00
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PEX3
        ABCA transporters in lipid homeostasis


    1 Kegg Pathway  (Kegg details for PEX3):
        Peroxisome


    PEX3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX3
    Interactions:

        GeneGlobe Interaction Network for PEX3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for PEX3 (P565891, 2, 3 ENSP000003565634) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX19P408551, 2, 3, ENSP000003570514EBI-594885,EBI-594747 MINT-17306 MINT-17307 I2D: score=7 STRING: ENSP00000357051
    PEX16Q9Y5Y53, ENSP000002410414I2D: score=1 STRING: ENSP00000241041
    PEX26Q7Z4123, ENSP000003311064I2D: score=1 STRING: ENSP00000331106
    ARF6P623303, ENSP000002983164I2D: score=1 STRING: ENSP00000298316
    CLN3Q132863I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007031peroxisome organization IMP10958759
    GO:0016557peroxisome membrane biogenesis IEA--
    GO:0045046protein import into peroxisome membrane IMP15007061
    GO:0055085transmembrane transport TAS--

    PEX3 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 PEX3



    (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 PEX3 gene: 
    NM_003630.2  

    Unigene Clusters for PEX3:

    Peroxisomal biogenesis factor 3
    Hs.7277  [show with all ESTs], Hs.592832  [show with all ESTs]
    Unigene Representative Sequences: NM_003630, AK023593
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367592 ENST00000367591(uc011edx.1 uc003qjl.3) ENST00000585848

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PEX3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX3 (see all 39):
    hsa-miR-548j hsa-miR-607 hsa-miR-25 hsa-miR-16-1* hsa-miR-30d hsa-miR-30a hsa-miR-3658 hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PEX3
    Predesigned siRNA for gene silencing in human, mouse, rat PEX3
    Clone
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    OriGene clones in human, mouse for PEX3 (see all 9)
    OriGene ORF clones in mouse, rat for PEX3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PEX3 (NM_003630)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PEX3
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX3
      QuantiTect SYBR Green Assays in human, mouse, rat PEX3
      QuantiFast Probe-based Assays in human, mouse, rat PEX3

    Additional mRNA sequence: AK023593.1 

    6 DOTS entries:

    DT.100780842  DT.442523  DT.91841079  DT.96086351  DT.95372939  DT.91686944 

    Selected AceView cDNA sequences (see all 140):

    CA312993 CR621449 BQ215000 BG618210 BP377713 CR593089 AL556868 AK023593 
    BG742056 CN482988 AW512001 CB161881 CR615782 AI215540 BP368895 BX642083 
    AB035307 BI826271 AA747440 AA305508 AU137342 CA488806 CR595026 AW516164 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PEX3    About this scheme

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


    ECgene alternative splicing isoforms for PEX3

    (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)
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    PEX3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTGTTCCC
    PEX3 Expression
    About this image


    PEX3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    PEX3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX3 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.7277 Hs.592832

    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
    Tissue specificity: Found in all examined tissues

        Custom PCR Arrays for PEX3
    Primer
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    OriGene qPCR primer pairs and template standards for PEX3
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX3
    QuantiTect SYBR Green Assays in human, mouse, rat PEX3
    QuantiFast Probe-based Assays in human, mouse, rat PEX3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX3

    (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 eukaryotes.

    Orthologs for PEX3 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex31 , 5 peroxisomal biogenesis factor 31, 5 88.89(n)1
    94.09(a)1
      10 (4.89 cM)5
    565351  NM_019961.31  NP_064345.11 
     135238475 
    chicken
    (Gallus gallus)
    Aves PEX31 peroxisomal biogenesis factor 3 79.77(n)
    85.91(a)
      421669  XM_419708.4  XP_419708.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX36
    peroxisomal biogenesis factor 3
    82(a)
    1 ↔ 1
    1(203878292-203896831)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.113352 Xenopus laevis transcribed sequence with weak similarity more 73.57(n)    AW635257.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563132 similar to peroxisomal biogenesis factor 3 74.59(n)   393197  BC046066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68593
    Pex31
    peroxisome organization and biogenesis3
    Peroxin 31
    32(a)3
    47.35(n)1
    40.29(a)1
      71B53
    396521  NM_140496.31  NP_648753.11 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-36
    Protein PRX-3, isoform a
    24(a)
    1 ↔ 1
    X(6110795-6112916) WBGene00004193
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX31 PEX3 42.09(n)
    27.74(a)
      851929   NP_010616.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PEX3-11 PEX3-1 45.22(n)
    31.4(a)
      821342  NM_112698.3  NP_566598.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g03143001 Os09g0314300 45.96(n)
    30.77(a)
      4346691  NM_001069374.1  NP_001062839.1 


    ENSEMBL Gene Tree for PEX3 (if available)
    TreeFam Gene Tree for PEX3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 PEX3 (see all 794)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0093044
    Peroxisome biogenesis disorder 10A (PBD10A)4--see VAR_0093042 G E mis40--------
    rs626412301,2
    Cuntested1143791202(+) TCACT-/TGTCAT 2 V CH fra10--------
    rs121738731,2
    C--141340416(+) ttttgG/Tatttt 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1466459281,2
    --143768441(+) CAGCTC/TGGGCA 1 -- us2k10--------
    rs2003506411,2
    --143768470(+) AAACC-/AAAAAA 1 -- us2k10--------
    rs1861305371,2
    --143768657(+) TCTTTG/TTATTT 1 -- us2k10--------
    rs1454608141,2
    C--143768677(+) GTATC-/TTTTTT
            
    TTTTT
    1 -- cds10--------
    rs787919981,2
    C--143768764(+) TCTCCA/CAAGGC 1 -- us2k10--------
    rs1414047401,2
    --143768840(+) ACTAAA/TTTTTA 1 -- us2k10--------
    rs1900644771,2
    --143768898(+) TCTTCA/TACTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PEX3 (143771918 - 143811753 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PEX3: --
    Human Gene Mutation Database (HGMD): PEX3
    Locus Specific Mutation Databases (LSDB): PEX3

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX3
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX3

    (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: 603164   
    OMIM disorders: 614882  
    UniProtKB/Swiss-Prot: PEX3_HUMAN, P56589
  • Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) [MIM:614882]: A peroxisomal disorder
    arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis
    disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from
    complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD),
    infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are
    distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum
    (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry
  • Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]: A fatal peroxisome biogenesis disorder
    belonging to the Zellweger disease spectrum and clinically characterized 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

  • Selected diseases for PEX3 (see all 21):    
    About MalaCards
    peroxisome biogenesis disorder 10a    zellweger syndrome    peroxisome biogenesis disorder 2b    hawkinsinuria
    neonatal adrenoleukodystrophy    zellweger spectrum    infantile refsum disease    refsum disease
    rhizomelic chondrodysplasia punctata    adrenoleukodystrophy    peroxisome disorders    chondrodysplasia
    hypotonia    tonsillitis    multiple myeloma    malaria
    myeloma    thyroiditis    cerebritis    endotheliitis

    4 diseases from the University of Copenhagen DISEASES database for PEX3:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy     Rhizomelic chondrodysplasia punctata

    PEX3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PEX3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 90.4 6 10958759 (2), 10871277 (1), 10968777 (1), 10942428 (1)

    GeneTests: PEX3
    GeneReviews: PEX3

    Export disorders for PEX3 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 PEX3 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with PEX3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p. (PubMed id 9657383)1, 2, 3 Kammerer S.... Roscher A.A. (FEBS Lett. 1998)
    2. PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins. (PubMed id 15007061)1, 2, 9 Fang Y.... Gould S.J. (J. Cell Biol. 2004)
    3. Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. (PubMed id 10958759)1, 2, 9 Muntau A.C.... Roscher A.A. (Am. J. Hum. Genet. 2000)
    4. Identification and characterization of the human peroxin PEX3. (PubMed id 10430017)1, 2, 9 Soukupova M.... Dodt G. (Eur. J. Cell Biol. 1999)
    5. The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes. (PubMed id 10679269)1, 2, 9 Muntau A.C....Kammerer S. (Biochem. Biophys. Res. Commun. 2000)
    6. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis. (PubMed id 10848631)1, 2, 9 Ghaedi K.... Fujiki Y. (Mol. Biol. Cell 2000)
    7. Insights into peroxisome function from the structure of PEX3 in complex with a soluble fragment of PEX19. (PubMed id 20554521)1, 2 Schmidt F.... Dodt G. (J. Biol. Chem. 2010)
    8. Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p. (PubMed id 21102411)1, 2 Sato Y.... Kato H. (EMBO J. 2010)
    9. 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)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (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)
    About This Section

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    Entrez Gene: 8504 HGNC: 8858 AceView: PEX3 Ensembl:ENSG00000034693 euGenes: HUgn8504
    ECgene: PEX3 Kegg: 8504 H-InvDB: PEX3

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for PEX3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX3[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 PEX3 gene:
    Search GeneIP for patents involving PEX3

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



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