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

PEX1 Gene

protein-coding   GIFtS: 65
GCID: GC07M092116

Peroxisomal Biogenesis Factor 1

(Previous names: peroxisome biogenesis factor 1, Zellweger syndrome 1, Zellweger...)
(Previous symbols: ZWS1, ZWS)
  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 11 2     Zellweger Syndrome 11
ZWS11 2 5     PBD1A2
ZWS1 2     PBD1B2
Peroxisome Biogenesis Factor 11 2     peroxin-12
Zellweger Syndrome1 2     Peroxin-13
Peroxisome Biogenesis Disorder Protein 12 3     

External Ids:    HGNC: 88501   Entrez Gene: 51892   Ensembl: ENSG000001279807   OMIM: 6021365   UniProtKB: O439333   

Export aliases for PEX1 gene to outside databases

Previous GC identifers: GC07M090651 GC07M091714 GC07M091728 GC07M091760 GC07M091954 GC07M086725


(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 PEX1 Gene:
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular
activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a
heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis.
Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal
adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants
have been found for this gene. (provided by RefSeq, Sep 2013)

GeneCards Summary for PEX1 Gene: 
PEX1 (peroxisomal biogenesis factor 1) is a protein-coding gene. Diseases associated with PEX1 include peroxisome biogenesis disorders, and zellweger syndrome. GO annotations related to this gene include ATPase activity, coupled and protein C-terminus binding.

UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933
Function: Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to
peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into
peroxisomes

Gene Wiki entry for PEX1 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_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX1 gene promoter:
         E2F-4   E2F-3a   E2F-5   GATA-3   E2F-2   GATA-2   HEN1   E2F-1   E2F   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX1


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

Entrez Gene cytogenetic band: 7q21.2   Ensembl cytogenetic band:  7q21.2   HGNC cytogenetic band: 7q21.2

PEX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M092116:  view genomic region     (about GC identifiers)

Start:
92,116,334 bp from pter      End:
92,157,845 bp from pter
Size:
41,512 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 91,445,547-91,487,069     

(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: PEX1_HUMAN, O43933 (See protein sequence)
Recommended Name: Peroxisome biogenesis factor 1  
Size: 1283 amino acids; 142867 Da
Subunit: Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6
Subcellular location: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes
Sequence caution: Sequence=AAB46346.1; Type=Erroneous gene model prediction;
Secondary accessions: A4D1G3 A8KA90 Q96S71 Q96S72 Q96S73 Q99994

Explore the universe of human proteins at neXtProt for PEX1: NX_O43933

Explore proteomics data for PEX1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus (EAL24151)
  • View neXtProt modification sites for NX_O43933

  • PEX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000457.1  NP_001269606.1  NP_001269607.1  

    ENSEMBL proteins: 
     ENSP00000410438   ENSP00000248633   ENSP00000394413   ENSP00000389594   ENSP00000438637  

    Human Recombinant Protein Products for PEX1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals PEX1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005777peroxisome IDA16854980
    GO:0005778peroxisomal membrane IDA11439091

    PEX1 for ontologies           About GeneDecksing



    PEX1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AATP: ATPases / AAA-type

    5/8 InterPro protein domains (see all 8):
     IPR003959 ATPase_AAA_core
     IPR025653 Pex1
     IPR015343 Peroxisome_synth_fac_1_a/b
     IPR003960 ATPase_AAA_CS
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry O43933

    ProtoNet protein and cluster: O43933

    1 Blocks protein domain: IPB003960 AAA-protein subdomain

    UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933
    Similarity: Belongs to the AAA ATPase family


    PEX1 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: PEX1_HUMAN, O43933
    Function: Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to
    peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into
    peroxisomes

         Genatlas biochemistry entry for PEX1:
    peroxin 1,peroxisome biogenesis factor 1,located mainly in the cytoplasm,required for the stability of PEX5 (PXR1)
    homolog to S cerevisiae PEX1

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005515protein binding IPI16257970
    GO:0005524ATP binding IMP16854980
    GO:0008022protein C-terminus binding IPI16854980
    GO:0009378four-way junction helicase activity ----
         
    PEX1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PEX1:
     Synthetic lethal with paclitax 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX1 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PEX1:
    hsa-miR-3163
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    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1


    (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 PEX1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for PEX1):
        Peroxisome


    PEX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX1

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

    5/25 Interacting proteins for PEX1 (O439331, 3 ENSP000002486334) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    HIST1H2BIP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0006625protein targeting to peroxisome IMP11439091
    GO:0007031peroxisome organization IMP11439091
    GO:0016558protein import into peroxisome matrix IMP9398847

    PEX1 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

    PEX1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for PEX1

    1 Novoseek inferred chemical compound relationship for PEX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 3 17018057 (3)

    Search CenterWatch for drugs/clinical trials and news about PEX1

    (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 PEX1 gene (3 alternative transcripts): 
    NM_000466.2  NM_001282677.1  NM_001282678.1  

    Unigene Cluster for PEX1:

    Peroxisomal biogenesis factor 1
    Hs.164682  [show with all ESTs]
    Unigene Representative Sequence: NM_000466
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438045 ENST00000248633(uc003uly.3 uc011khr.2 uc010ley.3 uc011khs.2)
    ENST00000496420 ENST00000477342 ENST00000484913(uc011kht.1) ENST00000428214
    ENST00000469417 ENST00000496092 ENST00000422866 ENST00000476923 ENST00000541751

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PEX1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PEX1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidPEX1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PEX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PEX1
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    GenScript: all cDNA clones in your preferred vector (see all 3): PEX1 (NM_001641)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX1

    Additional mRNA sequence: 

    AB008112.1 AB052090.1 AB052091.1 AB052092.1 AB052093.1 AB052094.1 AF026086.1 AF030356.1 
    AK292955.1 AK293757.1 AK293848.1 AK295686.1 BC035575.1 

    12 DOTS entries:

    DT.455649  DT.95166124  DT.40119855  DT.116004  DT.100812418  DT.116002  DT.70103455  DT.100807477 
    DT.101977551  DT.95345668  DT.121065487  DT.95219499 

    24/110 AceView cDNA sequences (see all 110):

    AF026086 AW964491 AA279043 BP352322 AB052091 AA361619 AA319409 AF030356 
    BC035575 AB052094 AA598527 AB052090 AA286696 AI017600 AA490966 AA287484 
    BQ029609 BX353670 AA479630 AB052092 AA348219 NM_000466 BQ002685 CR598710 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for PEX1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 18 ^ 19a · 19b · 19c ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b · 24c ^ 25
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for PEX1

    (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

    PEX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCAACCAG
    PEX1 Expression
    About this image


    See PEX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX1

    SOURCE GeneReport for Unigene cluster: Hs.164682
        SABiosciences Custom PCR Arrays for PEX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1

    (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 animals and fungi.

    Orthologs for PEX1 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex11 , 5 peroxisomal biogenesis factor 11, 5 82.93(n)1
    81.72(a)1
      5 (2.26 cM)5
    713821  NM_027777.11  NP_082053.11 
     35960665 
    chicken
    (Gallus gallus)
    Aves PEX11 peroxisomal biogenesis factor 1 68.91(n)
    63.32(a)
      420554  XM_418655.3  XP_418655.2 
    lizard
    (Anolis carolinensis)
    Reptilia PEX16
    Uncharacterized protein
    62(a)
    1 ↔ 1
    6(21260955-21284149)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ384765.12   -- 75.38(n)    BQ384765.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pex11 peroxisomal biogenesis factor 1 55.84(n)
    51.11(a)
      100534854  XM_003200620.1  XP_003200668.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)70Da3 peroxisome organization and biogenesis
    peroxisome-assembly ATPase less
    40(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea prx-13 peroxisome biosynthesis protein like 36(a)   X(14349166-14361795)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX1(YKL197C)4 AAA-peroxin that heterodimerizes with AAA-peroxin Pex6p and participates in the recycling of peroxisomal signal receptor Pex5p from the peroxisomal membrane to the cystosol; induced by oleic acid and upregulated during anaerobiosis less   --   11(73865-70734) 853636  NP_012724.1 


    ENSEMBL Gene Tree for PEX1 (if available)
    TreeFam Gene Tree for PEX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PEX1 gene
    9 SIMAP similar genes for PEX1 using alignment to 4 protein entries:     PEX1_HUMAN (see all proteins):
    PEX1R633Ter    PEX1Q261Ter    DKFZp434K0126    PSMC3    PSMC1    PSMC2
    PSMC5    PSMC6    VCP

    PEX1 for paralogs           About GeneDecksing



    (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

    10/942 SNPs in PEX1 are shown (see all 942)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0583764
    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1)4--see VAR_0583762 L R mis40--------
    VAR_0583774
    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1)4--see VAR_0583772 G R mis40--------
    VAR_0583784
    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1)4--see VAR_0583782 R G mis40--------
    VAR_0088764
    Peroxisome biogenesis disorder 1B (PBD1B)4--see VAR_0088762 L P mis40--------
    VAR_0583804
    Peroxisome biogenesis disorder complementation group 1 (PBD-CG1)4--see VAR_0583802 A E mis40--------
    VAR_0088774
    Peroxisome biogenesis disorder 1B (PBD1B)4--see VAR_0088772 G D mis40--------
    rs617504201,2
    C,Fpathogenic195437454(-) GATTGG/ATGGGT 2 /D /G mis11Minor allele frequency- A:0.00NA 4526
    rs1214344551,2
    Cpathogenic195440704(-) TGACCC/TTGACC 2 P L mis10--------
    rs617504311,2
    Cuntested195427225(-) ATGTAA/CCGGCT 2 * Y stg10--------
    rs617504301,2
    Cuntested195428872(-) TACAT-/TGGAAT 2 G WN fra10--------

    HapMap Linkage Disequilibrium report for PEX1 (92116334 - 92157845 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PEX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657169CNV Deletion23128226
    nsv5841CNV Insertion18451855


    Human Gene Mutation Database (HGMD): PEX1

    Locus Specific Mutation Databases (LSDB): PEX1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX1
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX1

    (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: 602136   
    OMIM disorders: 214100  202370  266510  
    UniProtKB/Swiss-Prot: PEX1_HUMAN, O43933
  • Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]: 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 1A (PBD1A) [MIM:214100]: A fatal peroxisome biogenesis disorder belonging
    to the Zellweger disease spectrum. PBD1A is an autosomal recessive systemic disorder 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 1B (PBD1B) [MIM:601539]: 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

  • 20/21 diseases for PEX1 (see all 21):    About MalaCards
    peroxisome biogenesis disorders    zellweger syndrome    peroxisome disorders    peroxisome biogenesis disorder 1b
    zellweger syndrome-1    zellweger spectrum    infantile refsum disease    refsum disease
    adrenoleukodystrophy    mulibrey nanism    peroxisome biogenesis disorders, zellweger syndrome spectrum    neonatal adrenoleukodystrophy
    werdnig-hoffmann disease    craniofacial abnormalities    rhizomelic chondrodysplasia punctata    chondrodysplasia
    sensorineural hearing loss    hypotonia    tuberculosis    hepatocellular carcinoma

    3 diseases from the University of Copenhagen DISEASES database for PEX1:
    Zellweger syndrome     Infantile refsum disease     Adrenoleukodystrophy

    PEX1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PEX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    peroxisome biogenesis disorders 98.3 8 9398848 (1), 11004248 (1), 9398847 (1), 16086329 (1) (see all 8)
    refsum disease infantile 97.1 1 9671729 (1)
    adrenoleukodystrophy neonatal 96.5 1 9671729 (1)
    zellweger syndrome 96.1 12 10480353 (5), 9671729 (2), 10447258 (2), 9539740 (1) (see all 5)
    peroxisomal disorders 77.8 1 9539740 (1)

    GeneTests: PEX1
    GeneReviews: PEX1
    Genetic Association Database (GAD): PEX1
    Human Genome Epidemiology (HuGE) Navigator: PEX1 (1 document)

    Export disorders for PEX1 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 PEX1 gene, integrated from 9 sources (see all 68):
    (articles sorted by number of sources associating them with PEX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. (PubMed id 9398848)1, 2, 3, 9 Portsteffen H.... Dodt G. (1997)
    2. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. (PubMed id 9398847)1, 2, 9 Reuber B.E.... Gould S.J. (1997)
    3. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. (PubMed id 9539740)1, 2, 9 Tamura S.... Fujiki Y. (1998)
    4. Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction. (PubMed id 11439091)1, 2, 9 Tamura S.... Fujiki Y. (2001)
    5. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PubMed id 19105186)1, 2, 9 Yik W.Y....Hacia J.G. (2009)
    6. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    8. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (2007)
    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. (2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)

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

      Query String
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      (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: 5189 HGNC: 8850 AceView: PEX1 Ensembl:ENSG00000127980 euGenes: HUgn5189
    ECgene: PEX1 Kegg: 5189 H-InvDB: PEX1

    (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 PEX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX1
    dbPEX, PEX Gene Databasehttp://www.dbpex.org/home.php?select_db=PEX1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX1 gene:
    Search GeneIP for patents involving PEX1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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