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    PELI1 pellino E3 ubiquitin protein ligase 1 [ Homo sapiens ]

    Gene ID: 57162, updated on 11-May-2012
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    Summary

    Official Symbol
    PELI1provided by HGNC
    Official Full Name
    pellino E3 ubiquitin protein ligase 1provided by HGNC
    Primary source
    HGNC:8827
    See related
    Ensembl:ENSG00000197329; HPRD:17834; Vega:OTTHUMG00000129511
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MGC50990; DKFZp686C18116
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    Genomic context

    Location :
    2p13.3
    Sequence :
    Chromosome: 2; NC_000002.11 (64319786..64371605, complement)
    See PELI1 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC647115 Neighboring gene UDP-glucose pyrophosphorylase 2 Neighboring gene vacuolar protein sorting 54 homolog (S. cerevisiae) Neighboring gene long intergenic non-protein coding RNA 309 Neighboring gene uncharacterized LOC100507006

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    2. A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease. Kim JJ, et al. Hum Genet, 2011 May. PMID 21221998.
    3. Pellino-1, an adaptor protein of interleukin-1 receptor/toll-like receptor signaling, is sumoylated by Ubc9. Kim JH, et al. Mol Cells, 2011 Jan. PMID 21120624.
    4. Peli1 facilitates TRIF-dependent Toll-like receptor signaling and proinflammatory cytokine production. Chang M, et al. Nat Immunol, 2009 Oct. PMID 19734906.
    5. Identification of the phosphorylation sites on the E3 ubiquitin ligase Pellino that are critical for activation by IRAK1 and IRAK4. Smith H, et al. Proc Natl Acad Sci U S A, 2009 Mar 24. PMID 19264966.

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. kinase-inactive IRAK proteins can associate with Pellino proteins, thus excluding the possibility that their inability to regulate Pellino degradation is due to lack of association with the Pellino proteins
      Title: 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.
    2. role in interleukin-1-mediated signalling through interaction with interleukin-1 receptor-associated kinase 4-IRAK-tumor necrosis factor receptor-associated factor 6 complex
      Title: 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.
    3. Smad6 bound to Pellino-1 promoted TGF-beta-mediated anti-inflammatory effects.
      Title: Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease.

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q96FA3 P51617 IRAK1    HPRD  PubMed  
    Q96FA3 Q9NWZ3 IRAK4    HPRD  PubMed  
    BioGRID:121418 BioGRID:109863 IRAK1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:121418 BioGRID:109865 IRAK2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:121418 BioGRID:119322 IRAK4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:121418 BioGRID:114274 RIPK1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:121418 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity 
    BioGRID:121418 BioGRID:113177 UBE2I    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
      Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • IRAK1 recruits IKK complex, organism-specific biosystem (from REACTOME)
      IRAK1 recruits IKK complex, organism-specific biosystemThe role of IRAK-1 kinase activity in the activation of NFkB by IL-1/TLR is still uncertain. It has been shown that a kinase-dead IRAK-1 mutants can still activate NFkB. Furthermore, stimulation of ...
    • IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation, organism-specific biosystem (from REACTOME)
      IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation, organism-specific biosystemThe role of IRAK-1 kinase activity in the activation of NFkB by IL-1/TLR is still uncertain. It has been shown that a kinase-dead IRAK-1 mutants can still activate NFkB. Furthermore, stimulation of ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
    • MyD88 cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
      MyD88 cascade initiated on plasma membrane, organism-specific biosystemMammalian myeloid differentiation factor 88 (MyD88) is Toll/interleukin (IL)-1 (TIR)-domain containing adapter protein which plays crucial role in TLR signaling. All TLRs, with only one exception of...
    • MyD88 dependent cascade initiated on endosome, organism-specific biosystem (from REACTOME)
      MyD88 dependent cascade initiated on endosome, organism-specific biosystemUpon binding of their ligands, TLR7/8 and TLR9 recruit a cytoplasmic adaptor MyD88 and IRAKs, downstream of which the signaling pathways are divided to induce either inflammatory cytokines or type I ...
    • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
      MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystem (from REACTOME)
      TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
    • Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystemLittle is known about TLR10 ligands. It has been established that the receptor homodimerizes upon binding and signals in an MyD88-dependent manner (Hasan U et al 2005; Nyman T et al 2008). It may als...
    • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
    • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
    • Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystemTLR5 is the receptor for flagellin, the protein that forms bacterial flagella. Unlike most other Pathogen-Associated Molecular Patterns (PAMPs), flagellin does not undergo any posttranslational modif...
    • Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystemRNA can serve as a danger signal, both in its double-stranded form (that is associated with viral infection), as well as single-stranded RNA (ssRNA). Specifically, guanosine (G)- and uridine (U)-rich...
    • Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystemCpG DNA is an unusual Pathogen-Associated Molecular Pattern (PAMP). Cytosine methylation exists in mammalian but not bacterial cells, and most (but not all) CpG in the mammalian genome is methylated....
    • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
    • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
      Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
    • Toll Receptor Cascades, organism-specific biosystem (from REACTOME)
      Toll Receptor Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    ubiquitin-protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    MyD88-dependent toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Toll signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    innate immune response TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of B cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of I-kappaB kinase/NF-kappaB cascade TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of toll-like receptor 3 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of toll-like receptor 4 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to dsRNA IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    toll-like receptor 1 signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    toll-like receptor 2 signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    toll-like receptor 4 signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    toll-like receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase pellino homolog 1
    Names
    E3 ubiquitin-protein ligase pellino homolog 1
    pellino-1
    pellino homolog 1
    protein pellino homolog 1
    pellino-related intracellular-signaling molecule
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020651.3 → NP_065702.2  E3 ubiquitin-protein ligase pellino homolog 1

      Status: VALIDATED

      Source sequence(s)
      BC050019, BM992606, DA804964
      Consensus CDS
      CCDS1876.1
      UniProtKB/TrEMBL
      Q53T26
      UniProtKB/Swiss-Prot
      Q96FA3
      Related
      ENSP00000351789, OTTHUMP00000159897, ENST00000358912, OTTHUMT00000251686
      Conserved Domains (1) summary
      pfam04710
      Location:3 – 418
      Blast Score: 2141
      Pellino; Pellino

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      64319786..64371605, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      64059563..64111396, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC012368.6 AAY24274.1
    genomic CH471053.2 EAW99948.1
      EAW99949.1
      EAW99950.1
    mRNA AF300987.1 AAG17451.1
    mRNA AF302505.1 AAG15393.1
    mRNA AJ278859.1 CAC04320.1
    mRNA AK027668.1 BAB55280.1
    mRNA AK312441.1 BAG35350.1
    mRNA AY364257.1 AAQ76816.1
    mRNA BC011419.1 AAH11419.1
    mRNA BC050019.1 AAH50019.1
    mRNA BC050533.1 None
    mRNA BC063611.1 AAH63611.1
    mRNA BM992606.1 None
    mRNA BX649152.1 None
    mRNA DA804964.1 None
    other-genetic HQ448508.1 ADQ32988.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53T26 GenPept UniProtKB/TrEMBL:Q53T26
    Q96FA3.2 GenPept UniProtKB/Swiss-Prot:Q96FA3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
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