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] See more...

Aliases for PELI3 Gene

Aliases for PELI3 Gene

  • Pellino E3 Ubiquitin Protein Ligase Family Member 3 2 3 5
  • RING-Type E3 Ubiquitin Transferase Pellino Homolog 3 3 4
  • E3 Ubiquitin-Protein Ligase Pellino Homolog 3 3 4
  • Pellino Homolog 3 (Drosophila) 2
  • Protein Pellino Homolog 3 3
  • Pellino Homolog 3 3
  • EC 2.3.2.27 4
  • Pellino-3 4
  • MGC35521 2
  • PELI3 5

External Ids for PELI3 Gene

Previous GeneCards Identifiers for PELI3 Gene

  • GC11P065991
  • GC11P066234
  • GC11P062562

Summaries for PELI3 Gene

Entrez Gene Summary for PELI3 Gene

  • 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]

GeneCards Summary for PELI3 Gene

PELI3 (Pellino E3 Ubiquitin Protein Ligase Family Member 3) is a Protein Coding gene. Among its related pathways are Diseases associated with the TLR signaling cascade and Activated TLR4 signalling. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is PELI1.

UniProtKB/Swiss-Prot Summary for PELI3 Gene

  • 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. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation.

Additional gene information for PELI3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PELI3 Gene

Genomics for PELI3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PELI3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PELI3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PELI3

Top Transcription factor binding sites by QIAGEN in the PELI3 gene promoter:
  • AML1a
  • AP-2gamma
  • Bach2
  • c-Myb
  • COMP1
  • Pax-4a
  • RORalpha2
  • Spz1
  • Zic3

Genomic Locations for PELI3 Gene

Genomic Locations for PELI3 Gene
chr11:66,466,327-66,477,337
(GRCh38/hg38)
Size:
11,011 bases
Orientation:
Plus strand
chr11:66,234,216-66,244,808
(GRCh37/hg19)
Size:
10,593 bases
Orientation:
Plus strand

Genomic View for PELI3 Gene

Genes around PELI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PELI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PELI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PELI3 Gene

Proteins for PELI3 Gene

  • Protein details for PELI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2H9-PELI3_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase pellino homolog 3
    Protein Accession:
    Q8N2H9
    Secondary Accessions:
    • Q8N3E1
    • Q8N9Q6
    • Q8TAW7
    • Q8TED5

    Protein attributes for PELI3 Gene

    Size:
    469 amino acids
    Molecular mass:
    50755 Da
    Quaternary structure:
    • Interacts with TRAF6, IRAK1, MAP3K14 and MAP3K7.
    SequenceCaution:
    • Sequence=BAC11499.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PELI3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PELI3 Gene

Post-translational modifications for PELI3 Gene

No data available for DME Specific Peptides for PELI3 Gene

Domains & Families for PELI3 Gene

Gene Families for PELI3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PELI3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PELI3 Gene

GenScript: Design optimal peptide antigens:
  • PELI3 protein (A1L176_HUMAN)
  • Protein pellino homolog 3 (PELI3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N2H9

UniProtKB/Swiss-Prot:

PELI3_HUMAN :
  • Belongs to the pellino family.
Family:
  • Belongs to the pellino family.
genes like me logo Genes that share domains with PELI3: view

Function for PELI3 Gene

Molecular function for PELI3 Gene

UniProtKB/Swiss-Prot 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. Can activate AP1/JUN and ELK1. Not required for NF-kappa-B activation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for PELI3 Gene

Phenotypes From GWAS Catalog for PELI3 Gene

Gene Ontology (GO) - Molecular Function for PELI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25814554
GO:0016740 transferase activity IEA --
GO:0061630 ubiquitin protein ligase activity IBA 21873635
genes like me logo Genes that share ontologies with PELI3: view
genes like me logo Genes that share phenotypes with PELI3: view

Animal Models for PELI3 Gene

MGI Knock Outs for PELI3:
  • Peli3 Peli3<tm1.1Arte>
  • Peli3 Peli3<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PELI3 Gene

Localization for PELI3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PELI3 gene
Compartment Confidence
cytosol 4
nucleus 3
cytoskeleton 2
extracellular 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PELI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PELI3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PELI3 Gene

Pathways & Interactions for PELI3 Gene

genes like me logo Genes that share pathways with PELI3: view

Pathways by source for PELI3 Gene

UniProtKB/Swiss-Prot Q8N2H9-PELI3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for PELI3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PELI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA 21873635
GO:0008063 Toll signaling pathway IBA 21873635
GO:0008592 regulation of Toll signaling pathway IEA --
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IMP 24113711
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with PELI3: view

Drugs & Compounds for PELI3 Gene

No Compound Related Data Available

Transcripts for PELI3 Gene

mRNA/cDNA for PELI3 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI3

Alternative Splicing Database (ASD) splice patterns (SP) for PELI3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c
SP1: - - -
SP2: - - - - - - - -
SP3: -
SP4: - - - -
SP5:
SP6: -

Relevant External Links for PELI3 Gene

GeneLoc Exon Structure for
PELI3

Expression for PELI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PELI3 Gene

Protein differential expression in normal tissues from HIPED for PELI3 Gene

This gene is overexpressed in Adrenal (39.5) and Kidney (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PELI3 Gene



Protein tissue co-expression partners for PELI3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PELI3

SOURCE GeneReport for Unigene cluster for PELI3 Gene:

Hs.656875

mRNA Expression by UniProt/SwissProt for PELI3 Gene:

Q8N2H9-PELI3_HUMAN
Tissue specificity: Highly expressed in brain, heart and testis, and at lower level in kidney, liver, lung, placenta, small intestine, spleen and stomach. Isoform 1 is not expressed in lung.

Evidence on tissue expression from TISSUES for PELI3 Gene

  • Nervous system(4.6)
  • Lung(4.2)
  • Thyroid gland(4.2)
genes like me logo Genes that share expression patterns with PELI3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PELI3 Gene

Orthologs for PELI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PELI3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PELI3 30 31
  • 99.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PELI3 30 31
  • 92.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PELI3 30 31
  • 90.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Peli3 30
  • 89.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia PELI3 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Peli3 30 17 31
  • 88.99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PELI3 31
  • 50 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PELI3 31
  • 77 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC100331601 30
  • 71.13 (n)
PELI3 31
  • 69 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pli 31
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F25B4.2 31
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToMany
Species where no ortholog for PELI3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PELI3 Gene

ENSEMBL:
Gene Tree for PELI3 (if available)
TreeFam:
Gene Tree for PELI3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PELI3: view image

Paralogs for PELI3 Gene

Paralogs for PELI3 Gene

(3) SIMAP similar genes for PELI3 Gene using alignment to 6 proteins:

  • PELI3_HUMAN
  • A1L176_HUMAN
  • E9PI91_HUMAN
  • E9PQX6_HUMAN
  • E9PR85_HUMAN
  • H0YEM6_HUMAN
genes like me logo Genes that share paralogs with PELI3: view

Variants for PELI3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PELI3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs34989499 - p.Val287Met

Additional dbSNP identifiers (rs#s) for PELI3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PELI3 Gene

Variant ID Type Subtype PubMed ID
nsv468601 CNV loss 19166990
nsv522277 CNV loss 19592680
nsv555224 CNV loss 21841781
nsv832193 CNV loss 17160897

Variation tolerance for PELI3 Gene

Residual Variation Intolerance Score: 22.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PELI3 Gene

Human Gene Mutation Database (HGMD)
PELI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PELI3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PELI3 Gene

Disorders for PELI3 Gene

No disorders were found for PELI3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PELI3 Gene

Publications for PELI3 Gene

  1. Pellino3, a novel member of the Pellino protein family, promotes activation of c-Jun and Elk-1 and may act as a scaffolding protein. (PMID: 12874243) Jensen LE … Whitehead AS (Journal of immunology (Baltimore, Md. : 1950) 2003) 2 3 4 23
  2. Pellino3 is a novel upstream regulator of p38 MAPK and activates CREB in a p38-dependent manner. (PMID: 15917247) Butler MP … Moynagh PN (The Journal of biological chemistry 2005) 2 3 23
  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. (PMID: 17675297) Butler MP … Moynagh PN (The Journal of biological chemistry 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PELI3 Gene

Sources for PELI3 Gene