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Aliases for PELI1 Gene

Aliases for PELI1 Gene

  • Pellino E3 Ubiquitin Protein Ligase 1 2 3 5
  • RING-Type E3 Ubiquitin Transferase Pellino Homolog 1 3 4
  • Pellino-Related Intracellular-Signaling Molecule 3 4
  • Pellino-1 3 4
  • E3 Ubiquitin-Protein Ligase Pellino Homolog 1 3
  • Pellino (Drosophila) Homolog 1 2
  • Pellino Homolog 1 (Drosophila) 2
  • Protein Pellino Homolog 1 3
  • Pellino Homolog 1 3
  • EC 2.3.2.27 4
  • PRISM 4

External Ids for PELI1 Gene

Previous GeneCards Identifiers for PELI1 Gene

  • GC02M064454
  • GC02M064277
  • GC02M064294
  • GC02M064231
  • GC02M064319
  • GC02M064059

Summaries for PELI1 Gene

GeneCards Summary for PELI1 Gene

PELI1 (Pellino E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Among its related pathways are Activated TLR4 signalling and Diseases associated with the TLR signaling cascade. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is PELI2.

UniProtKB/Swiss-Prot for PELI1 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 allowing subsequent NF-kappa-B activation.

Gene Wiki entry for PELI1 Gene

Additional gene information for PELI1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PELI1 Gene

Genomics for PELI1 Gene

GeneHancer (GH) Regulatory Elements for PELI1 Gene

Promoters and enhancers for PELI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J064140 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 481 6.4 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B LOC100507006 PELI1 VPS54 MDH1 UGP2 WDPCP
GH02J064210 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 31.2 -68.5 -68509 5.4 HDGF PKNOX1 ATF1 IRF4 YY1 TCF12 ZNF766 ZNF207 ATF7 RUNX3 PELI1 LOC100507006 LOC105374771 LGALSL ENSG00000237217 SERTAD2 AFTPH ENSG00000270354 GC02M064246
GH02J064259 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.1 -117.1 -117128 5 PKNOX1 IRF4 YY1 ZNF766 ATF7 FOS RUNX3 RXRA REST ZNF592 PELI1 LOC100507006 SERTAD2 AFTPH LGALSL GC02M064246 ENSG00000238012
GH02J064220 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 20 -75.9 -75858 0.7 ZNF3 ETV6 SPI1 PELI1 SERTAD2 AFTPH ENSG00000270354 GC02M064246 LOC100507006
GH02J064062 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.1 +80.0 79993 3.4 HDGF PKNOX1 ATF1 FOXA2 ARNT TCF12 FOS ATF7 ZNF623 SMARCA4 LOC100507006 MDH1 PELI1 WDPCP ENSG00000228079 VPS54 GC02M063958
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PELI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PELI1 gene promoter:
  • E2F
  • Egr-4
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Cdc5
  • SRY
  • C/EBPalpha

Genomic Locations for PELI1 Gene

Genomic Locations for PELI1 Gene
chr2:64,092,652-64,144,471
(GRCh38/hg38)
Size:
51,820 bases
Orientation:
Minus strand
chr2:64,319,786-64,371,605
(GRCh37/hg19)
Size:
51,820 bases
Orientation:
Minus strand

Genomic View for PELI1 Gene

Genes around PELI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PELI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PELI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PELI1 Gene

Proteins for PELI1 Gene

  • Protein details for PELI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FA3-PELI1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase pellino homolog 1
    Protein Accession:
    Q96FA3
    Secondary Accessions:
    • Q96SM0
    • Q9GZY5
    • Q9HCX0

    Protein attributes for PELI1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46286 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH11419.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55280.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for PELI1 Gene

Post-translational modifications for PELI1 Gene

Other Protein References for PELI1 Gene

No data available for DME Specific Peptides for PELI1 Gene

Domains & Families for PELI1 Gene

Gene Families for PELI1 Gene

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

Protein Domains for PELI1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96FA3

UniProtKB/Swiss-Prot:

PELI1_HUMAN :
  • Belongs to the pellino family.
Family:
  • Belongs to the pellino family.
genes like me logo Genes that share domains with PELI1: view

Function for PELI1 Gene

Molecular function for PELI1 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 allowing subsequent NF-kappa-B activation.
UniProtKB/Swiss-Prot CatalyticActivity:
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.

Enzyme Numbers (IUBMB) for PELI1 Gene

Phenotypes From GWAS Catalog for PELI1 Gene

Gene Ontology (GO) - Molecular Function for PELI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 12496252
GO:0016740 transferase activity IEA --
GO:0034450 ubiquitin-ubiquitin ligase activity TAS --
genes like me logo Genes that share ontologies with PELI1: view
genes like me logo Genes that share phenotypes with PELI1: view

Animal Models for PELI1 Gene

MGI Knock Outs for PELI1:
  • Peli1 Peli1<tm1b(EUCOMM)Wtsi>
  • Peli1 Peli1<tm1Tigm>

Animal Model Products

  • Taconic Biosciences Mouse Models for PELI1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PELI1 Gene

Localization for PELI1 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 PELI1 gene
Compartment Confidence
cytosol 5
nucleus 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PELI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PELI1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PELI1 Gene

Pathways & Interactions for PELI1 Gene

genes like me logo Genes that share pathways with PELI1: view

Pathways by source for PELI1 Gene

UniProtKB/Swiss-Prot Q96FA3-PELI1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for PELI1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PELI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA --
GO:0001819 positive regulation of cytokine production IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006955 immune response IBA --
GO:0008063 Toll signaling pathway IBA --
genes like me logo Genes that share ontologies with PELI1: view

Drugs & Compounds for PELI1 Gene

No Compound Related Data Available

Transcripts for PELI1 Gene

Unigene Clusters for PELI1 Gene

Pellino E3 ubiquitin protein ligase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PELI1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PELI1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10
SP1: - - -
SP2: - - - -
SP3: - - - - - -
SP4: - -
SP5: - - - -
SP6: -
SP7: - - - - -
SP8:

Relevant External Links for PELI1 Gene

GeneLoc Exon Structure for
PELI1
ECgene alternative splicing isoforms for
PELI1

Expression for PELI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PELI1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PELI1 Gene

This gene is overexpressed in Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for PELI1 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PELI1 Gene



Protein tissue co-expression partners for PELI1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PELI1 Gene:

PELI1

SOURCE GeneReport for Unigene cluster for PELI1 Gene:

Hs.7886

Evidence on tissue expression from TISSUES for PELI1 Gene

  • Nervous system(4.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PELI1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PELI1 Gene

Orthologs for PELI1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PELI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PELI1 34 33
  • 99.44 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PELI1 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PELI1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PELI1 34 33
  • 95.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PELI1 34 33
  • 94.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Peli1 16 34 33
  • 92.9 (n)
rat
(Rattus norvegicus)
Mammalia Peli1 33
  • 91.39 (n)
chicken
(Gallus gallus)
Aves PELI1 34 33
  • 83.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PELI1 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia peli2 33
  • 82.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia peli1-prov 33
zebrafish
(Danio rerio)
Actinopterygii peli1b 34 33
  • 74.16 (n)
OneToMany
peli1a 34
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pli 34 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F25B4.2 34 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Species where no ortholog for PELI1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for PELI1 Gene

ENSEMBL:
Gene Tree for PELI1 (if available)
TreeFam:
Gene Tree for PELI1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PELI1: view image

Paralogs for PELI1 Gene

Paralogs for PELI1 Gene

(2) SIMAP similar genes for PELI1 Gene using alignment to 2 proteins:

  • PELI1_HUMAN
  • Q53T26_HUMAN
genes like me logo Genes that share paralogs with PELI1: view

Variants for PELI1 Gene

Sequence variations from dbSNP and Humsavar for PELI1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000038091 -- 64,094,190(-) G/C 3_prime_UTR_variant
rs1000061021 -- 64,146,380(-) A/C upstream_transcript_variant
rs1000091766 -- 64,145,921(-) A/T upstream_transcript_variant
rs1000129053 -- 64,093,284(-) C/T 3_prime_UTR_variant
rs1000185124 -- 64,132,872(-) A/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PELI1 Gene

Variant ID Type Subtype PubMed ID
dgv151e55 CNV gain 17911159
dgv3861n100 CNV gain 25217958
dgv705e214 CNV gain 21293372
esv2759055 CNV gain 17122850
esv29437 CNV gain 19812545
esv3302963 CNV tandem duplication 20981092
nsv1006553 CNV gain 25217958
nsv1013132 CNV loss 25217958
nsv428396 CNV gain 18775914
nsv582126 CNV gain 21841781
nsv582127 CNV gain 21841781
nsv7313 OTHER inversion 18451855
nsv834243 CNV gain+loss 17160897
nsv9957 CNV gain 18304495

Variation tolerance for PELI1 Gene

Residual Variation Intolerance Score: 12.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PELI1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PELI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PELI1 Gene

Disorders for PELI1 Gene

Additional Disease Information for PELI1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PELI1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PELI1 Gene

Publications for PELI1 Gene

  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. (PMID: 11306823) Resch K … Schmitt-John T (Cytogenetics and cell genetics 2001) 2 3 4 22 58
  2. The IRAK-catalysed activation of the E3 ligase function of Pellino isoforms induces the Lys63-linked polyubiquitination of IRAK1. (PMID: 17997719) Ordureau A … Cohen P (The Biochemical journal 2008) 3 4 22 58
  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 22 58
  4. Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PMID: 16951688) Choi KC … Park SH (Nature immunology 2006) 2 3 4 58
  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. (PMID: 12496252) Jiang Z … Li X (The Journal of biological chemistry 2003) 3 4 22 58

Products for PELI1 Gene

Sources for PELI1 Gene

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