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PEX1 Gene

protein-coding   GIFtS: 67
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)
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Aliases
Peroxisomal Biogenesis Factor 11 2     PBD1A2 5
ZWS11 2 5     PBD1B2 5
ZWS1 2     Zellweger Syndrome 11
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 disorders, and peroxisome biogenesis disorder 1b. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for PEX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
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: 

  • Ubiquitination2 at Lys806, Lys816, Lys833, Lys887, Lys1224
  • Modification sites at PhosphoSitePlus

  • See PEX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000410438   ENSP00000248633   ENSP00000394413   ENSP00000389594   ENSP00000438637  

    PEX1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PEX1
    OriGene Custom MassSpec
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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

    PEX1 Antibody Products:

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    ThermoFisher Antibodies for PEX1
    LSBio Antibodies in human, mouse, rat for PEX1

    PEX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PEX1
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    Cloud-Clone Corp. ELISAs for PEX1
    Cloud-Clone Corp. CLIAs for PEX1


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

    Selected 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,
    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: 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): Selected molecular function terms (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: Let us create your new Knockout/Knockin mouse model for PEX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PEX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX1

    miRNA
    Products:
        
    miRTarBase miRNAs that target PEX1:
    hsa-mir-221-3p (MIRT046918)

    Block miRNA regulation of human, mouse, rat PEX1 using miScript Target Protectors
    1 qRT-PCR 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
    Predesigned siRNA for gene silencing in human, mouse, rat PEX1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PEX1

    Clone
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    OriGene clones in human, mouse for PEX1 (see all 6)
    OriGene ORF clones in mouse, rat for PEX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PEX1 (NM_001641)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX1


    (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
    PEX1_HUMAN, O43933: Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    peroxisome5
    nucleus4
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA9588209
    GO:0005777peroxisome IDA16854980
    GO:0005778peroxisomal membrane IDA11439091
    GO:0005829cytosol IDA16854980

    PEX1 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 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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX1
    Interactions:

        GeneGlobe Interaction Network for PEX1

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

    Selected Interacting proteins for PEX1 (O439331, 3 ENSP000002486334) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IMP16854980
    GO:0006281DNA repair ----
    GO:0006310DNA recombination ----
    GO:0006625protein targeting to peroxisome IMP11439091
    GO:0007031peroxisome organization IMP11439091

    PEX1 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 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)



    PEX1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for 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:
         
    Block miRNA regulation of human, mouse, rat PEX1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PEX1:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidPEX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PEX1
    Predesigned siRNA for gene silencing in human, mouse, rat PEX1
    Clone
    Products:
         
    OriGene clones in human, mouse for PEX1 (see all 6)
    OriGene ORF clones in mouse, rat for PEX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PEX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX1
      QuantiTect SYBR Green Assays in human, mouse, rat PEX1
      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 

    Selected AceView cDNA sequences (see all 110):

    AB052093 AA286696 BQ029609 AB052094 BP352322 AI017600 BX353670 AA287484 
    AF026086 AA490966 AA479630 AB052092 BC035575 AB052091 AW964491 AA598527 
    AA279043 BM787088 AA361619 CR598710 BQ002685 AB052090 AF030356 AA319409 

    GeneLoc Exon Structure

    Selected 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™, 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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    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


    PEX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    PEX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.164682
        Custom PCR Arrays for PEX1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PEX1
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX1
    QuantiTect SYBR Green Assays in human, mouse, rat PEX1
    QuantiFast Probe-based Assays in human, mouse, rat PEX1
    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PEX1 gene from Selected 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 68.83(n)
    63.32(a)
      420554  XM_004939295.1  XP_004939352.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX16
    peroxisomal biogenesis factor 1
    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 55.89(n)
    51.03(a)
      100534854  XM_003200620.2  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)
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    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    VCP    PSMC6

    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), 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 PEX1 (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--------
    rs289396781,2,4
    Peroxisome biogenesis disorder 1B (PBD1B)4--see VAR_0088762 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

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 602136   
    OMIM disorders: 214100  601539  
    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

  • Selected diseases for PEX1 (see all 23):    
    About MalaCards
    peroxisome disorders    peroxisome biogenesis disorder 1b    peroxisome biogenesis disorder 1a    infantile refsum disease
    zellweger spectrum    mulibrey nanism    neonatal adrenoleukodystrophy    peroxisome biogenesis disorders, zellweger syndrome spectrum
    zellweger syndrome    refsum disease    adrenoleukodystrophy    werdnig-hoffmann disease
    peroxisome biogenesis disorder 2b    hawkinsinuria    rhizomelic chondrodysplasia punctata    chondrodysplasia
    sensorineural hearing loss    hypotonia    tuberculosis    retinitis

    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)
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    PubMed articles for PEX1 gene, integrated from 10 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. (Nat. Genet. 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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Biochem. J. 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. (Hum. Mutat. 2009)
    6. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 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. (Proteomics 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. (Genome Res. 2004)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 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)
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    Entrez Gene: 5189 HGNC: 8850 AceView: PEX1 Ensembl:ENSG00000127980 euGenes: HUgn5189
    ECgene: PEX1 Kegg: 5189 H-InvDB: PEX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PEX1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX1[genesymbol]
    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.)
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    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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