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PELI3 pellino E3 ubiquitin protein ligase family member 3 [ Homo sapiens (human) ]

Gene ID: 246330, updated on 26-May-2016
Official Symbol
PELI3provided by HGNC
Official Full Name
pellino E3 ubiquitin protein ligase family member 3provided by HGNC
Primary source
HGNC:HGNC:30010
See related
Ensembl:ENSG00000174516 HPRD:17535; MIM:609827; Vega:OTTHUMG00000167109
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is a scaffold protein and an intermediate signaling protein in the innate immune response pathway. The encoded protein helps transmit the immune response signal from Toll-like receptors to IRAK1/TRAF6 complexes. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
Orthologs
Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (66466327..66477337)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66233798..66244808)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L11 Neighboring gene chromosome 5 open reading frame 63 pseudogene Neighboring gene uncharacterized LOC105369206 Neighboring gene uncharacterized LOC101928069 Neighboring gene uncharacterized LOC105379405 Neighboring gene dipeptidyl peptidase 3 Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene zinc finger DHHC-type containing 24

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
  • 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 IRAK1 kinase activity in the activation of NF-kappa-B by IL-1/TLR is still uncertain. It has been shown that a kinase-dead IRAK1 mutants can still activate NF-kappa-B. Furthermore, stimu...
  • 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 IRAK1 kinase activity in the activation of NF-kappa-B by IL-1/TLR is still uncertain. It has been shown that a kinase-dead IRAK1 mutants can still activate NF-kappa-B. Furthermore, stimu...
  • 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-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC35521

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ligase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Toll signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
E3 ubiquitin-protein ligase pellino homolog 3
Names
pellino homolog 3
protein pellino homolog 3

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.

Genomic

  1. NG_029627.1 RefSeqGene

    Range
    5539..16011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098510.1NP_001091980.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform 2

    See identical proteins and their annotated locations for NP_001091980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as isoform b) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL834395, BC025723, DA203229
    Consensus CDS
    CCDS41675.1
    UniProtKB/Swiss-Prot
    Q8N2H9
    UniProtKB/TrEMBL
    A0A024R5I2
    Related
    ENSP00000309848, OTTHUMP00000235209, ENST00000349459, OTTHUMT00000393225
    Conserved Domains (1) summary
    pfam04710
    Location:30445
    Pellino; Pellino
  2. NM_001243135.1NP_001230064.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform 3

    See identical proteins and their annotated locations for NP_001230064.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK094060, AL834395
    Consensus CDS
    CCDS73328.1
    UniProtKB/Swiss-Prot
    Q8N2H9
    Related
    ENSP00000484220, ENST00000618547
    Conserved Domains (1) summary
    pfam04710
    Location:30406
    Pellino; Pellino
  3. NM_001243136.1NP_001230065.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform 4

    See identical proteins and their annotated locations for NP_001230065.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL834395, BX341733, DA203229
    UniProtKB/Swiss-Prot
    Q8N2H9
    Conserved Domains (1) summary
    pfam04710
    Location:1362
    Pellino; Pellino
  4. NM_145065.2NP_659502.2  E3 ubiquitin-protein ligase pellino homolog 3 isoform 1

    See identical proteins and their annotated locations for NP_659502.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as isoform a).
    Source sequence(s)
    AL834395, DA203229
    Consensus CDS
    CCDS31615.1
    UniProtKB/Swiss-Prot
    Q8N2H9
    UniProtKB/TrEMBL
    A0A024R5B1
    Related
    ENSP00000322532, OTTHUMP00000235210, ENST00000320740, OTTHUMT00000393226
    Conserved Domains (1) summary
    pfam04710
    Location:30469
    Pellino; Pellino

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    66466327..66477337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544884.1XP_011543186.1  

    See identical proteins and their annotated locations for XP_011543186.1

    UniProtKB/Swiss-Prot
    Q8N2H9
    UniProtKB/TrEMBL
    A0A024R5B1
    Conserved Domains (1) summary
    pfam04710
    Location:30469
    Pellino; Pellino

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    66117541..66128552
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)