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

PELI1 Gene

protein-coding   GIFtS: 58
GCID: GC02M064319

Pellino E3 Ubiquitin Protein Ligase 1

(Previous names: pellino (Drosophila) homolog 1, pellino homolog 1 (Drosophila))
  See related disease
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
Pellino E3 Ubiquitin Protein Ligase 11 2     pellino-12
Pellino-Related Intracellular-Signaling Molecule2 3     Protein Pellino Homolog 12
Pellino (Drosophila) Homolog 11     EC 6.3.2.-3
Pellino Homolog 1 (Drosophila)1     PRISM3
E3 Ubiquitin-Protein Ligase Pellino Homolog 12     Pellino-13
Pellino Homolog 12     

External Ids:    HGNC: 88271   Entrez Gene: 571622   Ensembl: ENSG000001973297   OMIM: 6147975   UniProtKB: Q96FA33   

Export aliases for PELI1 gene to outside databases

Previous GC identifers: GC02M064454 GC02M064277 GC02M064294 GC02M064231 GC02M064059


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

GeneCards Summary for PELI1 Gene: 
PELI1 (pellino E3 ubiquitin protein ligase 1) is a protein-coding gene. Diseases associated with PELI1 include kawasaki disease, and among its related super-pathways are TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is PELI2.

UniProtKB/Swiss-Prot: PELI1_HUMAN, Q96FA3
Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and
TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation

Gene Wiki entry for PELI1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PELI1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   Cdc5   C/EBPalpha   Egr-4   SRY   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPELI1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PELI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PELI1


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

Entrez Gene cytogenetic band: 2p13.3   Ensembl cytogenetic band:  2p14   HGNC cytogenetic band: 2p13.3

PELI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PELI1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M064319:  view genomic region     (about GC identifiers)

Start:
64,319,786 bp from pter      End:
64,371,605 bp from pter
Size:
51,820 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: PELI1_HUMAN, Q96FA3 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase pellino homolog 1  
Size: 418 amino acids; 46286 Da
Subunit: Interacts with MAP3K7. Upon IL1B treatment, forms a complex with TRAF6, IRAK1, IRAK4 and MYD88; this
complex recruits MAP3K7/TAK1, TAB1 and TAB2 to mediate NF-kappa-B activation. Direct binding of SMAD6 to PELI1
prevents the complex formation and hence negatively regulates IL1R-TLR signaling and eventually
NF-kappa-B-mediated gene expression
Sequence caution: Sequence=AAH11419.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB55280.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q96SM0 Q9GZY5 Q9HCX0

Explore the universe of human proteins at neXtProt for PELI1: NX_Q96FA3

Explore proteomics data for PELI1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation by IRAK1 and IRAK4 enhances its E3 ligase activity
  • UniProtKB: Sumoylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FA3

  • PELI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PELI1 Protein Expression
    REFSEQ proteins: NP_065702.2  
    ENSEMBL proteins: 
     ENSP00000351789  
    Reactome Protein details: Q96FA3
    Human Recombinant Protein Products for PELI1: 
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    Novus Biologicals PELI1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PELI1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005829cytosol TAS--

    PELI1 for ontologies           About GeneDecksing



    PELI1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PELI: Pellino homologs

    1 InterPro protein domain:
     IPR006800 Pellino_fam

    Graphical View of Domain Structure for InterPro Entry Q96FA3

    ProtoNet protein and cluster: Q96FA3

    UniProtKB/Swiss-Prot: PELI1_HUMAN, Q96FA3
    Similarity: Belongs to the pellino family


    PELI1 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: PELI1_HUMAN, Q96FA3
    Function: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
    Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and
    TRAF6. Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI12496252
         
    PELI1 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Peli1):
     cellular  digestive/alimentary  endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging 

    PELI1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PELI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PELI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PELI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PELI1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target PELI1:
    hsa-mir-155 (MIRT005096)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PELI1
    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate PELI1 (see all 27):
    hsa-miR-30c hsa-miR-3910 hsa-miR-448 hsa-miR-3607-3p hsa-miR-374a hsa-miR-301a hsa-miR-30d hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidPELI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PELI1
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: PELI1 (NM_020651)
    Sino Biological Human cDNA Clone for PELI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PELI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PELI1
    Sirion Biotech Customized lentivirus for stable overexpression of PELI1 
                         Customized lentivirus expression plasmids for stable overexpression of PELI1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PELI1
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELI1


    (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

    SuperPaths for PELI1 About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1TRAF6 Mediated Induction of proinflammatory cytokines
    Toll Like Receptor 5 (TLR5) Cascade0.93
    Activated TLR4 signalling0.87
    MyD88 cascade initiated on plasma membrane0.93
    Toll Like Receptor 4 (TLR4) Cascade0.87
    Toll Like Receptor 10 (TLR10) Cascade0.93
    Toll-Like Receptors Cascades0.87
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation0.93
    Toll Like Receptor TLR6:TLR2 Cascade0.86
    2Immune System
    Immune System0.56
    Innate Immune System0.50
    3IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
    IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation0.40
    IRAK1 recruits IKK complex0.40
    4Interferon Signaling
    Cytokine Signaling in Immune system0.61
    5Interleukin-3, 5 and GM-CSF signaling
    Signaling by Interleukins0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/21        Reactome Pathways for PELI1 (see all 21)
        Toll Like Receptor 2 (TLR2) Cascade
    Toll Like Receptor TLR6:TLR2 Cascade
    Toll-Like Receptors Cascades
    Toll Like Receptor 7/8 (TLR7/8) Cascade
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation


    UniProtKB/Swiss-Prot: PELI1_HUMAN, Q96FA3
    Pathway: Protein modification; protein ubiquitination


    PELI1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PELI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/27 Interacting proteins for PELI1 (Q96FA32, 3 ENSP000003517894) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRAK1P516172, 3, ENSP000003589974MINT-2845005 I2D: score=6 STRING: ENSP00000358997
    IRAK2O431873, ENSP000002564584I2D: score=2 STRING: ENSP00000256458
    MAP3K7O433183, ENSP000003583354I2D: score=1 STRING: ENSP00000358335
    UBE2IP632793, ENSP000003248974I2D: score=1 STRING: ENSP00000324897
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination ----
    GO:0001819positive regulation of cytokine production IEA--
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0002755MyD88-dependent toll-like receptor signaling pathway TAS--
    GO:0008063Toll signaling pathway IEA--

    PELI1 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 PELI1

    Search CenterWatch for drugs/clinical trials and news about PELI1

    (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 PELI1 gene: 
    NM_020651.3  

    Unigene Cluster for PELI1:

    Pellino E3 ubiquitin protein ligase 1
    Hs.7886  [show with all ESTs]
    Unigene Representative Sequence: AF302505
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358912(uc002scr.4 uc002scs.4 uc002sct.4) ENST00000466177
    ENST00000494203 ENST00000468869
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PELI1
    8/27 QIAGEN miScript miRNA Assays for microRNAs that regulate PELI1 (see all 27):
    hsa-miR-30c hsa-miR-3910 hsa-miR-448 hsa-miR-3607-3p hsa-miR-374a hsa-miR-301a hsa-miR-30d hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidPELI1 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector: PELI1 (NM_020651)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PELI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PELI1
    Sirion Biotech Customized lentivirus for stable overexpression of PELI1 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PELI1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PELI1

    Additional mRNA sequence: 

    AF086327.1 AF300987.1 AF302505.1 AJ278859.1 AK022261.1 AK026714.1 AK027668.1 AK312441.1 
    AY364257.1 BC011419.1 BC050019.1 BC050533.1 BC063611.1 BX649152.1 

    8 DOTS entries:

    DT.101979601  DT.115900  DT.421586  DT.40194907  DT.100765232  DT.100659585  DT.95279257  DT.95279258 

    24/203 AceView cDNA sequences (see all 203):

    BQ049269 BP430927 W73187 Z38608 AF086327 AA760841 BM970082 R28364 
    AA320372 BU686702 AK022261 F03200 CA941726 AJ278859 BF591591 BM791468 
    AI867442 BM973728 BQ897912 AW169621 CA941447 AI242272 BC063611 CB043872 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PELI1 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for PELI1

    (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

    PELI1 expression in normal human tissues (normalized intensities)      PELI1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTGACT
    PELI1 Expression
    About this image


    PELI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             pre Conventional Dendritic Cells Peripheral Blood
             Cord Blood Pan-T Cells   
             cd4+ t cells   
     
     Lung (Respiratory System)
             trachea   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Umbilical Cord (Extraembryonic Tissues)
             Cord Blood Pan-T Cells   
     
     Lymph (Hematopoietic System)
             lymph node   

    See PELI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PELI1

    SOURCE GeneReport for Unigene cluster: Hs.7886
        SABiosciences Expression via Pathway-Focused PCR Arrays including PELI1: 
              Toll-Like Receptor Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PELI1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PELI1

    (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.

    Orthologs for PELI1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Peli11 , 5 pellino 11, 5 92.9(n)1
    99.76(a)1
      11 (13.81 cM)5
    672451  NM_023324.21  NP_075813.21 
     210912915 
    chicken
    (Gallus gallus)
    Aves PELI11 pellino homolog 1 (Drosophila) 83.62(n)
    99.26(a)
      421279  NM_001012872.1  NP_001012890.1 
    lizard
    (Anolis carolinensis)
    Reptilia PELI16
    Uncharacterized protein
    98(a)
    1 ↔ 1
    1(120369332-120435393)
    African clawed frog
    (Xenopus laevis)
    Amphibia peli1-prov2 pellino homolog 1 (Drosophila) 81.69(n)    BC044117.1 
    zebrafish
    (Danio rerio)
    Actinopterygii peli1b1 pellino homolog 1b (Drosophila) 74.16(n)
    90.67(a)
      558420  NM_001077601.2  NP_001071069.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pli3 defense response 60(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea F25B4.23   -- 43(a)   V(5712017-5715093)   --


    ENSEMBL Gene Tree for PELI1 (if available)
    TreeFam Gene Tree for PELI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PELI1 gene
    PELI22  PELI32  
    2 SIMAP similar genes for PELI1 using alignment to 2 protein entries:     PELI1_HUMAN (see all proteins):
    PELI2    PELI3

    PELI1 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

    10/1009 SNPs in PELI1 are shown (see all 1009)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1829655121,2
    --64319314(+) TCATTA/TCCCTA 1 -- int10--------
    rs1875507541,2
    --64319362(+) ATTAAG/TTAGCA 1 -- int10--------
    rs1391568431,2
    --64319396(+) TAAAAA/GAGTTA 1 -- int10--------
    rs1451051391,2
    --64319456(+) AACTTC/TTTCTC 1 -- int10--------
    rs1471609171,2
    C--64319476(+) CAGAAC/TACTGA 1 -- int10--------
    rs1404371151,2
    --64319478(+) GAATAC/GTGACA 1 -- int10--------
    rs1485878551,2
    C--64319527(+) ATGAC-/AAAAAT 1 -- int10--------
    rs1441944361,2
    --64319650(+) TTTTAA/CCTGTT 1 -- int10--------
    rs1454849651,2
    C--64319696(+) AACTTC/TTATGG 1 -- int10--------
    rs1489962821,2
    --64319737(+) TGCAAC/TTTACA 1 -- int10--------

    HapMap Linkage Disequilibrium report for PELI1 (64319786 - 64371605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for PELI1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv428396CNV Gain18775914
    esv29437CNV Gain19812545
    nsv9957CNV Gain18304495
    dgv151e55CNV Gain17911159
    nsv834243CNV Gain+Loss17160897
    dgv1191e1CNV Complex17122850
    dgv1192e1CNV Complex17122850
    nsv7313OTHER Inversion18451855
    esv259937OTHER Complex20981092

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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: 614797    OMIM disorders: --

    2 diseases for PELI1:    About MalaCards
    kawasaki disease    


    PELI1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PELI1
    Human Genome Epidemiology (HuGE) Navigator: PELI1 (1 document)

    Export disorders for PELI1 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 PELI1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with PELI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of homologous genes, Peli1/PELI1 and Peli2/PELI2, for the Pelle adaptor protein Pellino to mouse chromosomes 11 and 14 and human chromosomes 2p13.3 and 14q21, respectively, by physical and radiation hybrid mapping. (PubMed id 11306823)1, 2, 3, 9 Resch K.... Schmitt-John T. (2001)
    2. Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PubMed id 16951688)1, 2, 3 Choi K.C....Park S.H. (2006)
    3. Kinase-active interleukin-1 receptor-associated kinases promote polyubiquitination and degradation of the Pellino family: direct evidence for PELLINO proteins being ubiquitin-protein isopeptide ligases. (PubMed id 17675297)1, 2, 9 Butler M.P....Moynagh P.N. (2007)
    4. The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1. (PubMed id 17997719)1, 2, 9 Ordureau A....Cohen P. (2008)
    5. Pellino 1 is required for interleukin-1 (IL-1)-mediated signaling through its interaction with the IL-1 receptor-associated kinase 4 (IRAK4)-IRAK-tumor necrosis factor receptor-associated factor 6 (TRAF6) complex. (PubMed id 12496252)1, 2, 9 Jiang Z.... Li X. (2003)
    6. A genome-wide association analysis reveals 1p31 and 2 p13.3 as susceptibility loci for Kawasaki disease. (PubMed id 21221998)1, 4 Kim J.J....Lee J.K. (2011)
    7. Pellino-1, an adaptor protein of interleukin-1 receptor/toll-like receptor signaling, is sumoylated by Ubc9. (PubMed id 21120624)1, 2 Kim J.H....Park S.H. (2011)
    8. 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)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Pellino2 activates the mitogen activated protein kinase pathway. (PubMed id 12804775)1, 2 Jensen L.E. and Whitehead A.S. (2003)

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

      Query String
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    OMIM
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      (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: 57162 HGNC: 8827 AceView: PELI1 Ensembl:ENSG00000197329 euGenes: HUgn57162
    ECgene: PELI1 H-InvDB: PELI1

    (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 PELI1 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 PELI1 gene:
    Search GeneIP for patents involving PELI1

    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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