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

PEX19 Gene

protein-coding   GIFtS: 63
GCID: GC01M160246

peroxisomal biogenesis factor 19

(Previous name: peroxisomal farnesylated protein )
(Previous symbol: PXF)
 Explore 21 diseases affiliated with
PEX19 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PEX19    

Aliases
for PEX19 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Peroxisomal Biogenesis Factor 191 2     PXMP11 2
HK331 2 3 5     33 KDa Housekeeping Protein2 3
PXF1 2 3 5     PBD12A2
Peroxisomal Farnesylated Protein1 2 3     Housekeeping Gene, 33kD2
D1S2223E1 2 5     Peroxin-193
PMP11 2     Peroxin-193
PMPI1 2     

External Ids:    HGNC: 97131   Entrez Gene: 58242   Ensembl: ENSG000001627357   OMIM: 6002795   UniProtKB: P408553   
ORGUL members:         
NONCODE:n410054    

Export aliases for PEX19 gene to outside databases

Previous GC identifers: GC01M157464 GC01M157059 GC01M158513 GC01M160209 GC01M131603


Summaries
for PEX19 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PEX19:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: PEX19 promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PEX19 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Cytoplasm. Peroxisome membrane; Lipid-anchor; Cytoplasmic side. Note=Mainly cytoplasmic. Some
fraction membrane-associated to the outer surface of peroxisomes
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P40855

    • PEX19 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000357051   ENSP00000434633   ENSP00000434567   ENSP00000435896   ENSP00000435915  
     ENSP00000376054   ENSP00000396784  
    Reactome Protein details: P40855
    Human Recombinant Protein Products: 
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    Novus Biologicals PEX19 Proteins
    Novus Biologicals PEX19 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for PEX19
    Uscn Proteins for PEX19

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP12924628
    GO:0005737cytoplasm ISS--
    GO:0005777peroxisome ISS--
    GO:0005778peroxisomal membrane IDA--
    GO:0005829cytosol TAS--


    PEX19 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PEX19

    Protein Domains /
    Families
    for PEX19 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PEX19 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006708 Pex19

    Graphical View of Domain Structure for InterPro Entry P40855

    ProtoNet protein and cluster: P40855

    1 Blocks protein family: IPB006708 Pex19 protein

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


    Function
    for PEX19 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    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 plasmid: PEX19 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11402059
    GO:0036105peroxisome membrane class-1 targeting sequence binding IDA14709540
    GO:0047485protein N-terminus binding IPI19197237
    GO:0051117ATPase binding IPI11453642


    PEX19 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for PEX19 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1ABC-family proteins mediated transport
    		ABC-family proteins mediated transport1.00
    		ABCA transporters in lipid homeostasis0.47
    2Peroxisome
    		Peroxisome1.00
    3SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for PEX19
        ABC-family proteins mediated transport
    ABCA transporters in lipid homeostasis
    Transmembrane transport of small molecules


    1         Kegg Pathway  (Kegg details for PEX19):
        Peroxisome


    PEX19 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PEX19

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

    5/46 Interacting proteins for PEX19 (P408551, 2, 3 ENSP000003570514) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX14O753811, 2, 3, ENSP000003490164EBI-981972,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-981972,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-981972,EBI-594849 MINT-7995600 MINT-7995921 MINT-7995949 MINT-7995779 MINT-7995694 MINT-7995907 MINT-7995793 MINT-7996014 MINT-7995998 MINT-7995983 I2D: score=7 STRING: ENSP00000295030
    ABCD3P282881, 2, 3, ENSP000003592334EBI-981972,EBI-80992 MINT-8089481 MINT-8089465 I2D: score=6 STRING: ENSP00000359233
    PEX16Q9Y5Y52, 3, ENSP000002410414MINT-7995810 MINT-7995612 MINT-7995824 MINT-15438 MINT-15439 I2D: score=3 STRING: ENSP00000241041
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome IMP19114594
    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



    Drugs & Compounds
    for PEX19 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PEX19
    Search CenterWatch for drugs/clinical trials and news about PEX19 

    Transcripts
    for PEX19 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368072(uc001fvs.2 uc021pbq.1 uc010pje.1 uc001fvt.2)
    ENST00000472750 ENST00000532508 ENST00000495624 ENST00000462644 ENST00000532643
    ENST00000392220 ENST00000532516 ENST00000533699 ENST00000533104 ENST00000524939
    ENST00000440949

    miRNA
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    8/27 QIAGEN miScript miRNA 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 plasmid: PEX19 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PEX19 (see all 7)
    OriGene shRNA RFP: PEX19
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    Clone
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    Additional cDNA 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 

    24/447 AceView cDNA sequences (see all 447):

    CA426880 BF793804 AI264812 BQ641359 AI922250 AA904564 AU154389 AA242795 
    AA927703 BP344163 BU145974 AI190183 CB988365 AA989229 BM722864 BM920775 
    AI799693 CF123382 AW024387 BX489742 BM922981 CR603590 AL044926 AL559576 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for PEX19 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PEX19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGCAGAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See PEX19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX19

    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

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    In Situ
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    Orthologs
    for PEX19 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PEX19 gene from 8/29 species (see all 29)    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 CG53251 CG5325 46.47(n)
    32.12(a)    		   34630  NM_135703.3  NP_609547.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea prx-191 Protein PRX-19 47.79(n)
    35.94(a)    		   176239  NM_066546.4  NP_498947.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes PEX191 Pex19p   --   851494   NP_010218.2 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PEX19-21 peroxin 19-2 45.83(n)
    34.48(a)    		   831621  NM_121761.2  NP_568351.1 
    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
    for PEX19 gene

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

    Genomic Variants
    for PEX19 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/203 NCBI SNPs in PEX19 are shown (see all 203)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs776807301,2
    		--131602749(+) GGACCA/GCTCAC 4 -- ds50010--------
    rs767603681,2
    		--131603118(+) CTGCCG/ATCTCC 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs412657871,2
    		C,F,--131603344(+) AACTCC/TTTTAA 4 -- nc-transcript-variantut312Minor allele frequency- T:0.04NA EA 240
    rs1932903011,2
    		C,--131603564(+) AGAGAA/GACCGA 4 -- nc-transcript-variantut310--------
    rs98531,2
    		C,F,H,--131603628(-) AAAAGG/TTGTTC 4 -- nc-transcript-variantut31 trp313Minor allele frequency- T:0.09MN NS EA NA WA CSA 1496
    rs779622241,2
    		C,F,--131604897(+) ATCAGA/GAAAAG 4 -- nc-transcript-variantut311Minor allele frequency- G:0.12WA 118
    rs89891,2
    		C,F,H,--131605083(-) AGGAAA/GTTAAT 4 -- ut31 nc-transcript-variant12Minor allele frequency- G:0.02MN NS EA NA 1382
    rs168317241,2
    		C,F,H,--131605494(+) GACAGA/TCCTGT 4 -- nc-transcript-variantut31 ese39Minor allele frequency- T:0.03NA NS EA WA 680
    rs1127778461,2
    		--131606115(+) ACAGAC/TGTGAA 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs28204251,2
    		H--131606736(-) TTCTGA/TTTACC 4 -- int14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for PEX19 (160246599 - 160256138 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for PEX19: --
    Human Gene Mutation Database (HGMD): PEX19

    Locus Specific Mutation Databases (LSDB): PEX19

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PEX19
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX19

    Disorders / Diseases
    for PEX19 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PEX19 for disorders           About GeneDecksing

    OMIM gene information: 600279   
    OMIM disorders: 214100  
    UniProtKB/Swiss-Prot: PEX19_HUMAN, P40855
  • Defects in PEX19 are the cause of peroxisome biogenesis disorder complementation group 14 (PBD-CG14)
    • [MIM:614886]; also known as PBD-CGJ. PBD refers to a group of peroxisomal disorders arising from a failure of protein
    import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: 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. The PBD group is genetically heterogeneous with at least 14 distinct
    genetic groups as concluded from complementation studies
  • Defects in PEX19 are the cause of 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

    20/21 diseases for PEX19 (see all 21):    About MalaCards
    peroxisomal biogenesis disorder    peroxisome biogenesis disorders    peroxisome biogenesis factor    zellweger syndrome
    acute closed-angle glaucoma    rhizomelic chondrodysplasia punctata    lens subluxation    chondrodysplasia punctata
    lymphogranuloma venereum    intermittent claudication    infantile refsum disease    zellweger syndrome spectrum
    encephalitozoonosis    neonatal adrenoleukodystrophy    refsum disease    chondrodysplasia
    adrenoleukodystrophy    glaucoma    bipolar disorder    hypotonia

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

    1 Novoseek 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
    Zellweger Syndrome Spectrum


    Export disorders for PEX19 gene to outside databases

    Publications
    for PEX19 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PEX19 gene, integrated from 9 sources (see all 61):
    (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. (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. (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. (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. (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. (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. (2010)
    7. Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p. (PubMed id 21102411)1, 2 Sato Y....Kato H. (2010)
    8. A mutation in PEX19 causes a severe clinical phenotyp e in a patient with peroxisomal biogenesis disorder. (PubMed id 20683989)1, 2 Mohamed S....Waterham H.R. (2010)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. 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. (2004)

    External Searches for PEX19 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    		PubMed
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    Genome Databases showing PEX19 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5824 HGNC: 9713 AceView: PEX19andWDR42A Ensembl:ENSG00000162735 euGenes: HUgn5824
    ECgene: PEX19 Kegg: 5824 H-InvDB: PEX19

    Other Databases showing PEX19 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PEX19 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PEX19 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX19

    Intellectual Property
    for PEX19 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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