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PEX19 Gene

protein-coding   GIFtS: 65
GCID: GC01M160246

Peroxisomal Biogenesis Factor 19

(Previous name: peroxisomal farnesylated protein)
(Previous symbol: PXF)
  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 191 2     Housekeeping Gene1
PXF1 2 3 5     PMP12
Peroxisomal Farnesylated Protein1 2 3     PMPI2
HK332 3 5     PXMP12
33 KDa Housekeeping Protein2 3     Housekeeping Gene, 33kD2
D1S2223E2 5     peroxin-192
PBD12A2 5     Peroxin-193
33kD1     

External Ids:    HGNC: 97131   Entrez Gene: 58242   Ensembl: ENSG000001627357   OMIM: 6002795   UniProtKB: P408553   

Export aliases for PEX19 gene to outside databases

Previous GC identifers: GC01M157464 GC01M157059 GC01M158513 GC01M160209 GC01M131603


(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 PEX19 Gene:
This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import
receptor for peroxisomal membrane proteins (PMPs). 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.
These disorders have at least 14 complementation groups, with more than one phenotype being observed for some
complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit
a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this
gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14
(PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Aug 2010)

GeneCards Summary for PEX19 Gene:
PEX19 (peroxisomal biogenesis factor 19) is a protein-coding gene. Diseases associated with PEX19 include iris disease, and encephalitozoonosis. GO annotations related to this gene include peroxisome membrane class-1 targeting sequence binding and protein N-terminus binding.

UniProtKB/Swiss-Prot: PEX19_HUMAN, P40855
Function: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor
for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by
interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by
binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with
MDM2, which results in active degradation of TP53

Gene Wiki entry for PEX19 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_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the PEX19 gene promoter:
         E2F-4   E2F-3a   HEN1   E2F-5   E2F-1   E2F   NRSF form 1   SEF-1 (1)   E2F-2   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX19 promoter sequence
   Search Chromatin IP Primers for PEX19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PEX19


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

Entrez Gene cytogenetic band: 1q23.2   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q22

PEX19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX19 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M160246:  view genomic region     (about GC identifiers)

Start:
160,246,599 bp from pter      End:
160,256,138 bp from pter
Size:
9,540 bases      Orientation:
minus 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: PEX19_HUMAN, P40855 (See protein sequence)
Recommended Name: Peroxisomal biogenesis factor 19 precursor  
Size: 299 amino acids; 32807 Da
Subunit: Interacts with a broad range of peroxisomal membrane proteins, including PEX3, PEX10, PEX11A, PEX11B,
PEX12, PEX13, PEX14 and PEX16, PXMP2/PMP22, PXMP4/PMP24, SLC25A17/PMP34, ABCD1/ALDP, ABCD2/ALDRP, and
ABCD3/PMP70. Also interacts with the tumor suppressor CDKN2A/p19ARF
Sequence caution: Sequence=BAB93469.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for PEX19:
2W85 (3D)        2WL8 (3D)        3AJB (3D)        3MK4 (3D)    
Secondary accessions: D3DVE7 Q5QNY4 Q8NI97
Alternative splicing: 5 isoforms:  P40855-1   P40855-2   P40855-3   P40855-4   P40855-5   (Incomplete sequence)

Explore the universe of human proteins at neXtProt for PEX19: NX_P40855

Explore proteomics data for PEX19 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys52, Lys60, Lys92, Lys107, Lys130, Lys138, Lys198, Lys245
  • Modification sites at PhosphoSitePlus

  • See PEX19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180573.1  NP_002848.1  

    ENSEMBL proteins: 
     ENSP00000357051   ENSP00000434633   ENSP00000434567   ENSP00000435896   ENSP00000435915  
     ENSP00000376054   ENSP00000396784  
    Reactome Protein details: P40855

    PEX19 Human Recombinant Protein Products:

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    Novus Biologicals PEX19 Proteins
    Novus Biologicals PEX19 Lysates
    Browse Sino Biological Recombinant Proteins
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    ProSpec Recombinant Protein for PEX19
    Cloud-Clone Corp. Proteins for PEX19

    PEX19 Antibody Products:

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    PEX19 Assay Products:

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    Cloud-Clone Corp. ELISAs for PEX19
    Cloud-Clone Corp. CLIAs for PEX19


    (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:
     IPR006708 Pex19

    Graphical View of Domain Structure for InterPro Entry P40855

    ProtoNet protein and cluster: P40855

    1 Blocks protein domain: IPB006708 Pex19 protein

    UniProtKB/Swiss-Prot: PEX19_HUMAN, P40855
    Similarity: Belongs to the peroxin-19 family


    PEX19 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: PEX19_HUMAN, P40855
    Function: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor
    for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by
    interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by
    binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with
    MDM2, which results in active degradation of TP53

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10704444
    GO:0036105peroxisome membrane class-1 targeting sequence binding IDA14709540
    GO:0047485protein N-terminus binding IPI19197237
    GO:0051117ATPase binding IPI11453642
         
    PEX19 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PEX19:
     Decreased TP53 protein express  Upregulation of Wnt/beta-caten 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEX19
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX19

    miRNA
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    miRTarBase miRNAs that target PEX19:
    hsa-mir-221-3p (MIRT046878), hsa-mir-31-5p (MIRT049884)

    Block miRNA regulation of human, mouse, rat PEX19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX19 (see all 27):
    hsa-miR-644 hsa-miR-345 hsa-miR-4254 hsa-miR-570 hsa-miR-3667-5p hsa-miR-124 hsa-miR-376a* hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX19 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PEX19

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PEX19 (NM_001193644)
    Sino Biological Human cDNA Clone for PEX19
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX19
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX19

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX19


    (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
    PEX19_HUMAN, P40855: Cytoplasm. Peroxisome membrane; Lipid-anchor; Cytoplasmic side. Note=Mainly cytoplasmic.
    Some fraction membrane-associated to the outer surface of peroxisomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    peroxisome5
    nucleus4
    plasma membrane4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP12924628
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm ISS--
    GO:0005777peroxisome ISS--
    GO:0005778peroxisomal membrane IDA15713480

    PEX19 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 PEX19 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 PEX19
        ABCA transporters in lipid homeostasis


    1 Kegg Pathway  (Kegg details for PEX19):
        Peroxisome


    PEX19 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX19
    Interactions:

        GeneGlobe Interaction Network for PEX19

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

    Selected Interacting proteins for PEX19 (P408551, 2, 3 ENSP000003570514) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX14O753811, 2, 3, ENSP000003490164EBI-594747,EBI-594898 MINT-7231254 MINT-7231203 MINT-7231237 MINT-7231271 MINT-16255 MINT-7231050 MINT-7231343 MINT-7231288 MINT-16254 MINT-7231305 MINT-7231362 MINT-7231220 MINT-7231326 I2D: score=6 STRING: ENSP00000349016
    PEX11BO960111, 2, 3, ENSP000003583124EBI-594747,EBI-594824 MINT-15939 MINT-8071548 MINT-15940 MINT-7995588 MINT-8071578 MINT-7996031 MINT-7996107 MINT-7996063 MINT-7996047 MINT-7995748 MINT-8071563 I2D: score=6 STRING: ENSP00000358312
    PEX13Q929681, 2, 3, ENSP000002950304EBI-594747,EBI-594849 MINT-7995600 MINT-7995921 MINT-7995949 MINT-7995779 MINT-7995694 MINT-7995907 MINT-7995793 MINT-7995998 MINT-7996014 MINT-7995983 I2D: score=7 STRING: ENSP00000295030
    PEX16Q9Y5Y51, 2, 3, ENSP000002410414EBI-594747,EBI-981985 MINT-7995810 MINT-7995612 MINT-7995824 MINT-15438 MINT-15439 I2D: score=3 STRING: ENSP00000241041
    ABCD1P338971, 2, 3, ENSP000002181044EBI-594747,EBI-81045 MINT-7995890 MINT-7995876 MINT-7995670 I2D: score=4 STRING: ENSP00000218104
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome IMP10704444
    GO:0007031peroxisome organization NAS9339377
    GO:0016557peroxisome membrane biogenesis IDA10051604
    GO:0016559peroxisome fission IMP18782765
    GO:0045046protein import into peroxisome membrane IDA11402059

    PEX19 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 PEX19



    (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 PEX19 gene (3 alternative transcripts): 
    NM_001193644.1  NM_002857.3  NM_001131039.1  

    Unigene Cluster for PEX19:

    Peroxisomal biogenesis factor 19
    Hs.517232  [show with all ESTs]
    Unigene Representative Sequence: NM_002857
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368072(uc001fvs.2 uc021pbq.1 uc010pje.1 uc001fvt.2)
    ENST00000472750 ENST00000467711 ENST00000532508 ENST00000495624 ENST00000462644
    ENST00000532643 ENST00000392220 ENST00000532516 ENST00000533699 ENST00000533104
    ENST00000524939 ENST00000440949
    miRNA
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    Block miRNA regulation of human, mouse, rat PEX19 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PEX19 (see all 27):
    hsa-miR-644 hsa-miR-345 hsa-miR-4254 hsa-miR-570 hsa-miR-3667-5p hsa-miR-124 hsa-miR-376a* hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidPEX19 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PEX19
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    GenScript: all cDNA clones in your preferred vector (see all 2): PEX19 (NM_001193644)
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    Primer
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    OriGene qPCR primer pairs and template standards for PEX19
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      QuantiTect SYBR Green Assays in human, mouse, rat PEX19
      QuantiFast Probe-based Assays in human, mouse, rat PEX19

    Additional mRNA sequence: 

    AB018541.1 AB062286.1 AK300368.1 AK303099.1 AY434724.1 BC000496.2 BC064979.1 BT006879.1 
    NR_036492.1 NR_036493.1 X75535.1 

    19 DOTS entries:

    DT.100719793  DT.454005  DT.100817740  DT.97851966  DT.100817738  DT.95263878  DT.100799908  DT.100817749 
    DT.75111623  DT.95263870  DT.95263877  DT.121400773  DT.121400825  DT.100817737  DT.121400771  DT.121400801 
    DT.121400804  DT.95263874  DT.121400798 

    Selected AceView cDNA sequences (see all 447):

    AL603133 CF145279 BU521797 AL598644 CB162250 AB018541 BM920775 BM463760 
    NM_002857 AI522090 AA916557 AI806166 CA308112 BI821034 CR606003 AU124460 
    BM693959 CR603590 CB990040 BQ420626 CR598549 BG286444 CA448697 BQ645430 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PEX19 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:                    -     -                             -           -                                             
    SP2:                    -     -     -                       -           -                                             
    SP3:                    -     -                             -                                                         
    SP4:                                            -     -     -           -                                             
    SP5:                                                        -                                                         


    ECgene alternative splicing isoforms for PEX19

    (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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    PEX19 expression in normal human tissues (normalized intensities)      PEX19 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCAGAATA
    PEX19 Expression
    About this image


    PEX19 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
     
     Thyroid (Endocrine System)
     
     Adipose (Muscoskeletal System)
     
     Liver (Hepatobiliary System)
    PEX19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517232

    UniProtKB/Swiss-Prot: PEX19_HUMAN, P40855
    Tissue specificity: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where
    isoform 2 is the main form

        Custom PCR Arrays for PEX19
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    QuantiFast Probe-based Assays in human, mouse, rat PEX19
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX19

    (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 PEX19 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex191 , 5 peroxisomal biogenesis factor 191, 5 86.18(n)1
    90.64(a)1
      1 (79.54 cM)5
    192981  NM_023041.31  NP_075528.31 
     1721267555 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.33832 Xenopus laevis transcribed sequence with strong similarity more 79.97(n)    CF290304.1 
    zebrafish
    (Danio rerio)
    Actinopterygii copa2 coatomer protein complex, subunit alpha 78.72(n)   260439  CF265828.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pex191 Peroxin 19 45.94(n)
    31.46(a)
      34630  NM_135703.3  NP_609547.2 
    worm
    (Caenorhabditis elegans)
    Secernentea prx-196
    Protein PRX-19 (prx-19) mRNA, complete cds
    32(a)
    1 ↔ 1
    III(8807480-8809329) WBGene00004201
    rice
    (Oryza sativa)
    Liliopsida Os.178812 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.76(n)    AK103786.1 


    ENSEMBL Gene Tree for PEX19 (if available)
    TreeFam Gene Tree for PEX19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PEX19 gene
    1 SIMAP similar gene for PEX19 using alignment to 7 protein entries:     PEX19_HUMAN (see all proteins):
    DCAF8

    PEX19 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 PEX19 (see all 276)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs776807301,2
    --166742041(+) GGACCA/GCTCAC 4 -- ds50010--------
    rs1855370701,2
    --166742265(+) TCATCA/CGTGCC 4 -- ds50010--------
    rs767603681,2
    C,F--166742410(+) CTGCCG/ATCTCC 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs15575241,2
    C,F,H--166742417(-) ATGACG/ATGGAG 4 -- ds500120Minor allele frequency- A:0.44NS EA NA CSA WA 2346
    rs412657871,2
    C,F--166742636(+) AACTCC/TTTTAA 4 -- ut31 nc-transcript-variant2Minor allele frequency- T:0.04NA EA 240
    rs1915984471,2
    --166742653(+) AGAGTC/TGCATA 4 -- ut31 nc-transcript-variant0--------
    rs1835644691,2
    --166742654(+) GAGTCA/GCATAA 4 -- ut31 nc-transcript-variant0--------
    rs1888493221,2
    --166742676(+) ACAGCC/TTAAAC 4 -- ut31 nc-transcript-variant0--------
    rs1481231211,2
    C--166742718(+) AGAAAA/CGGAAG 4 -- ut31 nc-transcript-variant0--------
    rs1418295991,2
    C--166742737(+) AATGCC/TAGAGA 4 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for PEX19 (160246599 - 160256138 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PEX19:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3210CNV Loss18451855

    Human Gene Mutation Database (HGMD): PEX19
    Locus Specific Mutation Databases (LSDB): PEX19

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX19
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX19

    (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: 600279   
    OMIM disorders: 614886  
    UniProtKB/Swiss-Prot: PEX19_HUMAN, P40855
  • Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) [MIM:614886]: 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 12A (PBD12A) [MIM:614886]: 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 PEX19 (see all 24):    About MalaCards
    iris disease    encephalitozoonosis    peroxisome biogenesis disorder 12a    acute closed-angle glaucoma
    lymphogranuloma venereum    peroxisome biogenesis disorder 2b    hawkinsinuria    lens subluxation
    intermittent claudication    zellweger spectrum    neonatal adrenoleukodystrophy    zellweger syndrome
    infantile refsum disease    refsum disease    adrenoleukodystrophy    rhizomelic chondrodysplasia punctata
    peroxisome disorders    chondrodysplasia    hypotonia    glaucoma

    6 diseases from the University of Copenhagen DISEASES database for PEX19:
    Glaucoma     Iris disease     Intermittent claudication     Encephalitozoonosis
    Lens subluxation     Zellweger syndrome

    PEX19 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PEX19 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zellweger syndrome 75 2 14680974 (1), 10051604 (1)

    GeneTests: PEX19
    GeneReviews: PEX19

    Export disorders for PEX19 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 PEX19 gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with PEX19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. (PubMed id 10051604)1, 2, 3, 9 Matsuzono Y.... Fujiki Y. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Genomic organization and molecular characterization of a gene encoding HsPXF, a human peroxisomal farnesylated protein. (PubMed id 9339377)1, 2, 3, 9 Kammerer S.... Braun A. (Genomics 1997)
    3. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. (PubMed id 11883941)1, 2, 9 Mayerhofer P.U.... Muntau A.C. (Biochem. Biophys. Res. Commun. 2002)
    4. 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)
    5. Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19. (PubMed id 19197237)1, 2, 9 Neufeld C....Sattler M. (EMBO J. 2009)
    6. 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)
    7. A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. (PubMed id 20683989)1, 2 Mohamed S....Waterham H.R. (Am. J. Med. Genet. A 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. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. (PubMed id 14709540)1, 2 Jones J.M.... Gould S.J. (J. Cell Biol. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 5824 HGNC: 9713 AceView: PEX19andWDR42A Ensembl:ENSG00000162735 euGenes: HUgn5824
    ECgene: PEX19 Kegg: 5824 H-InvDB: PEX19

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for PEX19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PEX19[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 PEX19 gene:
    Search GeneIP for patents involving PEX19

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



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