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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 IL-1 signaling pathway and Activated TLR4 signalling. 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

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

Regulatory Elements for PELI1 Gene

Enhancers for PELI1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G064259 1.9 FANTOM5 Ensembl ENCODE dbSUPER 32.1 -117.1 -117128 5.0 PKNOX1 ZNF766 GATA2 FOS REST TBX21 ZNF592 SMARCA4 PBX2 NBN PELI1 LOC100507006 SERTAD2 AFTPH LGALSL GC02M064246 ENSG00000238012
GH02G064210 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.2 -68.5 -68509 5.4 HDGF PKNOX1 ATF1 FEZF1 YY1 TCF12 ZNF766 CBX5 ZNF207 NCOA1 PELI1 LOC100507006 ENSG00000237217 LOC105374771 LGALSL SERTAD2 AFTPH ENSG00000270354 GC02M064246
GH02G064220 1.1 FANTOM5 Ensembl dbSUPER 20 -75.9 -75859 0.7 ZNF3 ETV6 SPI1 PELI1 SERTAD2 AFTPH ENSG00000270354 GC02M064246
GH02G064062 1.5 FANTOM5 Ensembl ENCODE 11.1 +80.0 79994 3.4 HDGF PKNOX1 FOXA2 ATF1 ARNT TCF12 GATA2 FOS KLF13 TBX21 LOC100507006 MDH1 PELI1 WDPCP ENSG00000228079 VPS54
GH02G064200 1.4 Ensembl ENCODE dbSUPER 11.3 -58.6 -58627 5.2 HDGF FOXA2 PKNOX1 TBL1XR1 BMI1 ZBTB40 YY1 SCRT2 ZNF143 RELB LOC100507006 PELI1 LGALSL LOC105374771 ENSG00000237217 VPS54 LINC00309 GC02P064150
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PELI1 on UCSC Golden Path with GeneCards custom track

Promoters for PELI1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000117911 971 3001 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for PELI1 Gene

Chromosome:
2
Start:
64,092,652 bp from pter
End:
64,144,471 bp from pter
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

Protein Domains for PELI1 Gene

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 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.
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.

Enzyme Numbers (IUBMB) 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for PELI1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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:0001819 positive regulation of cytokine production IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006955 immune response IBA --
GO:0008063 Toll signaling pathway IBA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with PELI1: view

Transcripts for PELI1 Gene

Unigene Clusters for PELI1 Gene

Pellino E3 ubiquitin protein ligase 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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, PaxDb, 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(4.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with PELI1: view

Primer Products

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 35
  • 99.44 (n)
oppossum
(Monodelphis domestica)
Mammalia PELI1 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PELI1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PELI1 34 35
  • 95.93 (n)
cow
(Bos Taurus)
Mammalia PELI1 34 35
  • 94.74 (n)
mouse
(Mus musculus)
Mammalia Peli1 34 16 35
  • 92.9 (n)
rat
(Rattus norvegicus)
Mammalia Peli1 34
  • 91.39 (n)
chicken
(Gallus gallus)
Aves PELI1 34 35
  • 83.62 (n)
lizard
(Anolis carolinensis)
Reptilia PELI1 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia peli2 34
  • 82.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia peli1-prov 34
zebrafish
(Danio rerio)
Actinopterygii peli1b 34 35
  • 74.16 (n)
peli1a 35
  • 69 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pli 36 35
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea F25B4.2 36 35
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for PELI1 Gene

Paralogs for PELI1 Gene

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

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 Sequence Context AA Info Type
rs1000038091 -- 64,094,190(+) AGCTA(C/G)GTTGC utr-variant-3-prime
rs1000061021 -- 64,146,380(+) AAAGG(A/C)GATTT upstream-variant-2KB
rs1000091766 -- 64,145,921(+) GGTTC(A/T)GCAAA upstream-variant-2KB
rs1000129053 -- 64,093,284(+) CTTTG(C/T)TACAG utr-variant-3-prime
rs1000185124 -- 64,132,872(+) GCCCC(A/C)GCCAT 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)

Relevant External Links for PELI1 Gene

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

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

Disorders for PELI1 Gene

Relevant External Links for PELI1

Genetic Association Database (GAD)
PELI1
Human Genome Epidemiology (HuGE) Navigator
PELI1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PELI1

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. (Cytogenet. Cell Genet. 2001) 2 3 4 22 64
  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. (Biochem. J. 2008) 3 4 22 64
  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 M.P. … Moynagh P.N. (J. Biol. Chem. 2007) 3 4 22 64
  4. Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1. (PMID: 16951688) Choi K.C. … Park S.H. (Nat. Immunol. 2006) 2 3 4 64
  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. (J. Biol. Chem. 2003) 3 4 22 64

Products for PELI1 Gene

Sources for PELI1 Gene

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