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

PEX5L Gene

protein-coding   GIFtS: 49
GCID: GC03M179512

Peroxisomal Biogenesis Factor 5-Like

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Peroxisomal Biogenesis Factor 5-Like1 2     PEX2-Related Protein2 3
PEX5R2 3 5     PEX5-Like Protein2 3
Peroxin-5-Related Protein2 3     PXR2B2 5
Peroxisome Biogenesis Factor 5-Like2 3     PEX5RP2
Tetratricopeptide Repeat-Containing Rab8b-Interacting Protein2 3     PEX5-Related Protein2
PXR22 3     Pex5p-Related Protein2
TRIP8b2 3     Pex5Rp3

External Ids:    HGNC: 300241   Entrez Gene: 515552   Ensembl: ENSG000001147577   OMIM: 6110585   UniProtKB: Q8IYB43   

Export aliases for PEX5L gene to outside databases

Previous GC identifers: GC03M181000 GC03M176922


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

GeneCards Summary for PEX5L Gene: 
PEX5L (peroxisomal biogenesis factor 5-like) is a protein-coding gene. Diseases associated with PEX5L include neonatal adrenoleukodystrophy, and acoustic neuroma. GO annotations related to this gene include peroxisome matrix targeting signal-1 binding and small GTPase binding. An important paralog of this gene is PEX5.

UniProtKB/Swiss-Prot: PEX5R_HUMAN, Q8IYB4
Function: Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating
their cell-surface expression and cyclic nucleotide dependence (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PEX5L gene promoter:
         Nkx3-1   Max1   AhR   Nkx3-1 v1   Arnt   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPEX5L promoter sequence
   Search SABiosciences Chromatin IP Primers for PEX5L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PEX5L


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

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q27.1

PEX5L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PEX5L gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M179512:  view genomic region     (about GC identifiers)

Start:
179,512,746 bp from pter      End:
179,754,841 bp from pter
Size:
242,096 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PEX5R_HUMAN, Q8IYB4 (See protein sequence)
Recommended Name: PEX5-related protein  
Size: 626 amino acids; 69697 Da
Subunit: Interacts with RAB8B. Forms an obligate 4:4 complex with HCN2 (By similarity). May interact with the
C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type); the relevance of such interaction is
however unclear
Subcellular location: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Note=Some
fraction is membrane associated via its interaction with RAB8B (By similarity)
Sequence caution: Sequence=CAC01120.1; Type=Erroneous initiation;
Secondary accessions: B7Z2A5 B7Z305 B7Z318 B7Z5Z5 B7Z8P2 E7EUV8 E7EUZ0 E9PEC1 E9PH97 Q9NQD1
Q9P2U3 Q9P2U4
Alternative splicing: 8 isoforms:  Q8IYB4-1   Q8IYB4-2   Q8IYB4-3   Q8IYB4-4   Q8IYB4-5   Q8IYB4-6   Q8IYB4-7   Q8IYB4-8   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PEX5L: NX_Q8IYB4

Explore proteomics data for PEX5L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IYB4

  • PEX5L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PEX5L Protein Expression
    REFSEQ proteins (8 alternative transcripts): 
    NP_001243679.1  NP_001243680.1  NP_001243681.1  NP_001243682.1  NP_001243683.1  NP_001243684.1  NP_001243685.1  NP_057643.1  

    ENSEMBL proteins: 
     ENSP00000419975   ENSP00000263962   ENSP00000418440   ENSP00000418665   ENSP00000420555  
     ENSP00000418054   ENSP00000417270   ENSP00000419348   ENSP00000418746   ENSP00000419790  
     ENSP00000417438   ENSP00000419406   ENSP00000376420  

    Human Recombinant Protein Products for PEX5L: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX5L 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005778peroxisomal membrane IBA--
    GO:0005829cytosol IDA11463335
    GO:0030425dendrite IEA--

    PEX5L for ontologies           About GeneDecksing



    PEX5L Antibody Products: 
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    Assay Products for PEX5L: 
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    Cloud-Clone Corp. CLIAs for PEX5L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR024112 PEX5-rel
     IPR001440 TPR-1
     IPR024111 PTS1R_family
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8IYB4

    ProtoNet protein and cluster: Q8IYB4

    UniProtKB/Swiss-Prot: PEX5R_HUMAN, Q8IYB4
    Similarity: Belongs to the peroxisomal targeting signal receptor family
    Similarity: Contains 6 TPR repeats


    PEX5L for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PEX5R_HUMAN, Q8IYB4
    Function: Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating
    their cell-surface expression and cyclic nucleotide dependence (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000268peroxisome targeting sequence binding IDA18346465
    GO:0005052peroxisome matrix targeting signal-1 binding IDA11463335
    GO:0005515protein binding ----
    GO:0031267small GTPase binding IPI18346465
         
    PEX5L for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PEX5L:
     Increased S DNA content  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Pex5l):
     behavior/neurological  nervous system  no phenotypic analysis  normal 

    PEX5L for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PEX5L: Pex5ltm1.1Chet Pex5ltm1(KOMP)Vlcg

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PEX5L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PEX5L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PEX5L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PEX5L 

    miRNA
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    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX5L (see all 45):
    hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-218 hsa-miR-502-3p hsa-miR-3658 hsa-miR-133a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidPEX5L 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5L
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                         Customized lentivirus expression plasmids for stable overexpression of PEX5L 

    Cell Line
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    Search LifeMap BioReagents cell lines for PEX5L
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5L


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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PEX5L

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

    5/7 Interacting proteins for PEX5L (Q8IYB43 ENSP000004199754) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAF1P040493, ENSP000002518494I2D: score=1 STRING: ENSP00000251849
    RAB8BQ929303I2D: score=1 
    YWHABP319463I2D: score=1 
    CNGA2ENSP000003284784STRING: ENSP00000328478
    CNGA4ENSP000003692684STRING: ENSP00000369268
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016558protein import into peroxisome matrix IBA--
    GO:0016560protein import into peroxisome matrix, docking IBA--
    GO:0042391regulation of membrane potential IEA--
    GO:0043949regulation of cAMP-mediated signaling ISS--
    GO:0045185maintenance of protein location IEA--

    PEX5L for ontologies           About GeneDecksing



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

    Browse Tocris compounds for PEX5L (PEX5R)

    Search CenterWatch for drugs/clinical trials and news about PEX5L / PEX5R

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PEX5L gene (8 alternative transcripts): 
    NM_001256750.1  NM_001256751.1  NM_001256752.1  NM_001256753.1  NM_001256754.1  NM_001256755.1  NM_001256756.1  NM_016559.2  

    Unigene Cluster for PEX5L:

    Peroxisomal biogenesis factor 5-like
    Hs.235331  [show with all ESTs]
    Unigene Representative Sequence: NM_016559
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467460(uc011bqd.1 uc011bqe.1 uc011bqf.1 uc003fki.1 uc003fkj.1 uc010hxd.1 uc011bqg.1 uc011bqh.1)
    ENST00000263962 ENST00000485199 ENST00000468741 ENST00000476138 ENST00000467440
    ENST00000472994 ENST00000464614 ENST00000465751 ENST00000477829 ENST00000461537
    ENST00000496721 ENST00000491640 ENST00000469198 ENST00000463761 ENST00000487198
    ENST00000474909 ENST00000392649
    miRNA
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    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate PEX5L (see all 45):
    hsa-miR-106a hsa-miR-301a hsa-miR-519a hsa-miR-218 hsa-miR-502-3p hsa-miR-3658 hsa-miR-133a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidPEX5L 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: PEX5L (NM_016559)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX5L
    Sirion Biotech Customized lentivirus for stable overexpression of PEX5L 
                         Customized lentivirus expression plasmids for stable overexpression of PEX5L 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PEX5L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX5L

    Additional mRNA sequence: 

    AB032592.1 AB032593.1 AF088015.1 AJ245503.1 AK294227.1 AK294501.1 AK295349.1 AK295386.1 
    AK299633.1 AK303716.1 AK314283.1 AL831863.1 BC036183.1 

    11 DOTS entries:

    DT.107358  DT.311408  DT.100735011  DT.120880516  DT.40112753  DT.120880486  DT.97810930  DT.120880468 
    DT.120880503  DT.95156826  DT.120880499 

    24/40 AceView cDNA sequences (see all 40):

    BU159360 AL707141 CD675094 AJ245503 BX095208 NM_016559 AI073945 T36048 
    AI298101 AA382844 AB032592 AB032593 N51156 BP360207 BI550670 AI123085 
    BU164954 BP349771 AI090876 AI914021 BG208857 AL707454 AI014896 BM548539 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for PEX5L (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for PEX5L

    (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

    PEX5L expression in normal human tissues (normalized intensities)      PEX5L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTATCTGG
    PEX5L Expression
    About this image


    PEX5L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer

    See PEX5L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PEX5L

    SOURCE GeneReport for Unigene cluster: Hs.235331

    UniProtKB/Swiss-Prot: PEX5R_HUMAN, Q8IYB4
    Tissue specificity: Mainly expressed in brain. Also expressed in pancreas, testis and pituitary

        SABiosciences Custom PCR Arrays for PEX5L
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PEX5L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5L

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

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PEX5L gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pex5l1 , 5 peroxisomal biogenesis factor 5-like1, 5 88.3(n)1
    97.09(a)1
      3 (15.94 cM)5
    588691  NM_021483.31  NP_067458.21 
     329496345 
    chicken
    (Gallus gallus)
    Aves PEX5L1 peroxisomal biogenesis factor 5-like 78.49(n)
    84.87(a)
      429155  XM_426710.3  XP_426710.3 
    lizard
    (Anolis carolinensis)
    Reptilia PEX5L6
    Uncharacterized protein
    82(a)
    1 ↔ 1
    3(1796576-1970957)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5570091 novel protein similar to H.sapiens peroxisomal biogenesis more 65.93(n)
    66.55(a)
      557009  XM_679965.4  XP_685057.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pex56
    Peroxin 5
    29(a)
    1 → many
    X(1760865-1763094)
    worm
    (Caenorhabditis elegans)
    Secernentea prx-56
    Protein PRX-5, isoform a
    29(a)
    1 → many
    II(8704822-8706765)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX56
    YMR018W6
    Peroxisomal membrane signal receptor for the C-ter...
    Putative protein of unknown function with similari...
    20(a)
    17(a)
    many ↔ many
    many ↔ many
    IV(950563-952401)
    XIII(310208-311752)


    ENSEMBL Gene Tree for PEX5L (if available)
    TreeFam Gene Tree for PEX5L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PEX5L gene
    PEX52  
    1 SIMAP similar gene for PEX5L using alignment to 5 protein entries:     PEX5R_HUMAN (see all proteins):
    PEX5

    PEX5L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4796 SNPs in PEX5L are shown (see all 4796)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358654
    A colorectal cancer sample4--see VAR_0358652 A T mis40--------
    rs721442261,2
    C--179410101(+) GCTAA-/T/TT  
            
    TTTTT
    8 -- int10--------
    rs1137067231,2
    C,F--179512331(+) CTCACA/GGCCCT 8 -- ds50012Minor allele frequency- G:0.05CSA WA 120
    rs1823222221,2
    --179512375(+) ACTAAA/GCTCAT 8 -- ds50010--------
    rs1162559951,2
    C,F--179512420(+) TGCCAG/ATAGCG 8 -- ds50011Minor allele frequency- A:0.20WA 118
    rs1875770451,2
    --179512425(+) GTAGCA/GTTGTG 8 -- ds50010--------
    rs1932545881,2
    --179512448(+) GTCAGC/TAAATC 8 -- ds50010--------
    rs1452089371,2
    --179512454(+) AAATCA/TCAGTC 8 -- ds50010--------
    rs1853965921,2
    --179513031(+) GAAGCC/TGCAGA 8 -- ut310--------
    rs1393000371,2
    C--179513033(+) AGCCG-/CAGA  
            
    CAAAG
    8 -- ut310--------

    HapMap Linkage Disequilibrium report for PEX5L (179512746 - 179754841 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for PEX5L (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726260CNV Deletion23290073
    esv1977016CNV Deletion18987734
    esv2726261CNV Deletion23290073
    esv1408102CNV Deletion17803354
    esv1009120CNV Deletion20482838
    esv2726259CNV Deletion23290073
    esv2726258CNV Deletion23290073
    esv2676913CNV Deletion23128226
    esv2395412CNV Deletion18987734
    esv1008971CNV Deletion20482838

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611058    OMIM disorders: --

    5 diseases for PEX5L:    About MalaCards
    neonatal adrenoleukodystrophy    acoustic neuroma    adrenoleukodystrophy    neuroma
    zellweger syndrome

    1 disease from the University of Copenhagen DISEASES database for PEX5L:
    Acoustic neuroma

    PEX5L for disorders           About GeneDecksing

    Genetic Association Database (GAD): PEX5L
    Human Genome Epidemiology (HuGE) Navigator: PEX5L (1 document)

    Export disorders for PEX5L gene to outside databases

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

    PubMed articles for PEX5L gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with PEX5L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of PEX5p-related novel peroxisome-targeting signal 1 (PTS1)-binding proteins in mammals. (PubMed id 11463335)1, 2, 3, 9 Amery L....Van Veldhoven P.P. (2001)
    2. Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. (PubMed id 21490949)1, 4 Sim X....Tai E.S. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. 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)
    5. Comparison of the PTS1- and Rab8b-binding properties of Pex5p and Pex5Rp/TRIP8b. (PubMed id 18346465)1, 9 Fransen M....Van Veldhoven P.P. (2008)
    6. TRIP8b-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels. (PubMed id 23077068)1 Huang Z....Shah M.M. (2012)
    7. Structure and stoichiometry of an accessory subunit TR IP8b interaction with hyperpolarization-activated cyclic nucleotide-gated channe ls. (PubMed id 22550182)1 Bankston J.R....Zagotta W.N. (2012)
    8. Trafficking and gating of hyperpolarization-activated cyclic nucleotide-gated channels are regulated by interaction with tetratricop eptide repeat-containing Rab8b-interacting protein (TRIP8b) and cyclic AMP at d istinct sites. (PubMed id 21504900)1 Han Y....Chetkovich D.M. (2011)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51555 HGNC: 30024 AceView: PEX5L Ensembl:ENSG00000114757 euGenes: HUgn51555
    ECgene: PEX5L H-InvDB: PEX5L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PEX5L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PEX5L gene:
    Search GeneIP for patents involving PEX5L

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



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

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