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PEX5L Gene

protein-coding   GIFtS: 50
GCID: GC03M179512

Peroxisomal Biogenesis Factor 5-Like

  Search for PEX5L
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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PEX5L Gene:
PEX5L (peroxisomal biogenesis factor 5-like) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   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 Chromatin IP Primers for PEX5L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PEX5L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    PEX5L Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PEX5L
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for PEX5L
    OriGene Custom Protein Services for PEX5L
    GenScript Custom Purified and Recombinant Proteins Services for PEX5L
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PEX5L

     
    Search eBioscience for Proteins for PEX5L 

    PEX5L Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PEX5L
    Novus Biologicals PEX5L Antibodies
    Search for Antibodies for PEX5L at Abcam
    Cloud-Clone Corp. Antibodies for PEX5L
    Search ThermoFisher Antibodies for PEX5L
    Search LSBio for Antibodies for PEX5L

    PEX5L Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PEX5L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PEX5L
    Cloud-Clone Corp. CLIAs for PEX5L
    Search eBioscience for ELISAs for PEX5L 


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

    Selected 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


    Find genes that share domains with PEX5L           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with PEX5L           About GenesLikeMe


    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 

    Find genes that share phenotypes with PEX5L           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PEX5L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target PEX5L:
    hsa-mir-26b-5p (MIRT029375)

    Block miRNA regulation of human, mouse, rat PEX5L using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for PEX5L
    Predesigned siRNA for gene silencing in human, mouse, rat PEX5L

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PEX5L

    Clone
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    OriGene clones in human, mouse for PEX5L (see all 8)
    OriGene ORF clones in mouse, rat for PEX5L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PEX5L (NM_016559)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PEX5L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PEX5L

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for PEX5L
    Browse ESI BIO Cell Lines and PureStem Progenitors for PEX5L 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PEX5L


    (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
    PEX5R_HUMAN, Q8IYB4: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity). Note=Some
    fraction is membrane associated via its interaction with RAB8B (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    peroxisome3
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005778peroxisomal membrane IBA--
    GO:0005829cytosol IDA11463335
    GO:0030425dendrite IEA--
    GO:0043235receptor complex IDA--

    Find genes that share ontologies with PEX5L           About GenesLikeMe


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PEX5L
    Interactions:

        Search GeneGlobe Interaction Network for PEX5L

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

    Selected Interacting proteins for PEX5L (Q8IYB43 ENSP000004199754) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAF1P040493, ENSP000002518494I2D: score=1 STRING: ENSP00000251849
    RAB8BQ929303I2D: score=1 
    YWHABP319463I2D: score=1 
    PEX1ENSP000002486334STRING: ENSP00000248633
    PEX2ENSP000003495434STRING: ENSP00000349543
    About this table

    Gene Ontology (GO): 5 biological process terms:    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--

    Find genes that share ontologies with PEX5L           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat PEX5L using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for PEX5L
    Predesigned siRNA for gene silencing in human, mouse, rat PEX5L
    Clone
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    OriGene clones in human, mouse for PEX5L (see all 8)
    OriGene ORF clones in mouse, rat for PEX5L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PEX5L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX5L
      QuantiTect SYBR Green Assays in human, mouse, rat PEX5L
      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 

    Selected AceView cDNA sequences (see all 40):

    AI073945 BU159360 AB032593 AI298101 AL707141 T36048 AJ245503 AB032592 
    AA382844 BX095208 CD675094 NM_016559 BG220726 BG208857 BI550670 BP360207 
    AL707454 BC036183 CK002912 AI090876 BU164954 AI123085 BQ890613 N51156 

    GeneLoc Exon Structure

    Selected 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™, 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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    PEX5L expression in normal human tissues (normalized intensities)
    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
     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   
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
    PEX5L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PEX5L Protein Expression

    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

        Custom PCR Arrays for PEX5L
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PEX5L
    QuantiTect SYBR Green Assays in human, mouse, rat PEX5L
    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PEX5L gene from Selected species (see all 15)    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 87.09(n)1
    95.29(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 79.01(n)
    84.78(a)
      429155  XM_004943451.1  XP_004943508.1 
    lizard
    (Anolis carolinensis)
    Reptilia PEX5L6
    peroxisomal biogenesis factor 5-like
    81(a)
    1 ↔ 1
    3(1796576-1970957)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pex5l1 peroxisomal biogenesis factor 5-like 72.46(n)
    73.69(a)
      100498559  XM_002931577.2  XP_002931623.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pex5la1 peroxisomal biogenesis factor 5-like a 65.69(n)
    65.98(a)
      557009  XM_679965.5  XP_685057.5 
    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 b (prx-5) mRNA, complete cd...
    29(a)
    1 → many
    II(8704822-8706765) WBGene00004194
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PEX56
    --
    Peroxisomal membrane signal receptor for the C-ter...
    Putative protein of unknown function with similari...
    23(a)
    20(a)
    many ↔ many
    many ↔ many
    IV(950563-952401) YDR244W
    XIII(310208-311752) YMR018W


    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)
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    Paralogs for PEX5L gene
    PEX52  
    1 SIMAP similar gene for PEX5L using alignment to 5 protein entries:     PEX5R_HUMAN (see all proteins):
    PEX5

    Find genes that share paralogs with PEX5L           About GenesLikeMe



    (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 PEX5L (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PEX5L
    DNA2.0 Custom Variant and Variant Library Synthesis for PEX5L

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

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

    Find genes that share disorders with PEX5L           About GenesLikeMe

    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)
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    PubMed articles for PEX5L gene, integrated from 10 sources (see all 19):
    (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. (Biochem. J. 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. (PLoS Genet. 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. (Mol. Med. 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. (Genome Res. 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. (Biochim. Biophys. Acta 2008)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. TRIP8b-independent trafficking and plasticity of adult cortical presynaptic HCN1 channels. (PubMed id 23077068)1 Huang Z....Shah M.M. (J. Neurosci. 2012)
    8. Structure and stoichiometry of an accessory subunit TRIP8b interaction with hyperpolarization-activated cyclic nucleotide-gated channels. (PubMed id 22550182)1 Bankston J.R....Zagotta W.N. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Trafficking and gating of hyperpolarization-activated cyclic nucleotide-gated channels are regulated by interaction with tetratricopeptide repeat-containing Rab8b-interacting protein (TRIP8b) and cyclic AMP at distinct sites. (PubMed id 21504900)1 Han Y....Chetkovich D.M. (J. Biol. Chem. 2011)
    10. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 51555 HGNC: 30024 AceView: PEX5L Ensembl:ENSG00000114757 euGenes: HUgn51555
    ECgene: PEX5L H-InvDB: PEX5L

    (According to HUGE)
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      --

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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