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

Gene ID: 246330, updated on 2-Nov-2024

Summary

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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 MIM:609827; AllianceGenome:HGNC:30010
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]
Expression
Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 4.8) and 24 other tissues See more
Orthologs
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Genomic context

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See PELI3 in Genome Data Viewer
Location:
11q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66466327..66477337)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66462584..66473594)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66233798..66244808)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5044 Neighboring gene mitochondrial ribosomal protein L11 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:66219904-66220097 Neighboring gene chromosome 5 open reading frame 63 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66232341-66232842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66232843-66233342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66243741-66244561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66245199-66245792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66246731-66247298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5045 Neighboring gene DPP3 divergent transcript Neighboring gene skeletal muscle cis-regulatory module in DPP3 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66258390-66259340 Neighboring gene dipeptidyl peptidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5046 Neighboring gene Bardet-Biedl syndrome 1 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298267-66298846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66298847-66299424

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. miR-365a-5p suppresses gefitinib resistance in non-small-cell lung cancer through targeting PELI3. Li F, et al. Pharmacogenomics, 2020 Jul. PMID 32635799
  2. Long Non-coding RNA MIAT Mediates Non-small Cell Lung Cancer Development Through Regulating the miR-128-3p/PELI3 Axis. Li F, et al. Biochem Genet, 2020 Dec. PMID 32556677
  3. Role of a novel circulatory RNA-based biomarker panel expression in ovarian cancer. El-Shal AS, et al. IUBMB Life, 2019 Dec. PMID 31520466
  4. Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†. Yu Y, et al. Hum Mol Genet, 2016 Dec 1. PMID 28011711, Free PMC Article
  5. Differential modulation of Helicobacter pylori lipopolysaccharide-mediated TLR2 signaling by individual Pellino proteins. Smith SM, et al. Helicobacter, 2017 Feb. PMID 27302665

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pellino3 ligase negatively regulates influenza B dependent RIG-I signalling through downregulation of TRAF3-mediated induction of the transcription factor IRF3 and IFNbeta production.
    Title: Pellino3 ligase negatively regulates influenza B dependent RIG-I signalling through downregulation of TRAF3-mediated induction of the transcription factor IRF3 and IFNβ production.
  2. miR-365a-5p suppresses gefitinib resistance in non-small-cell lung cancer through targeting PELI3.
    Title: miR-365a-5p suppresses gefitinib resistance in non-small-cell lung cancer through targeting PELI3.
  3. Long Non-coding RNA MIAT Mediates Non-small Cell Lung Cancer Development Through Regulating the miR-128-3p/PELI3 Axis.
    Title: Long Non-coding RNA MIAT Mediates Non-small Cell Lung Cancer Development Through Regulating the miR-128-3p/PELI3 Axis.
  4. PELI3 gene expression in blood and ovarian cancer.
    Title: Role of a novel circulatory RNA-based biomarker panel expression in ovarian cancer.
  5. Two protective, low-frequency, non-synonymous variants were significantly associated with a decrease in age-related macular degeneration (AMD)risk: A307V in PELI3 and N1050Y in CFH .We also identified a strong protective signal for a common variant (rs8056814) near CTRB1 associated with a decrease in AMD risk (logistic regression: OR = 0.71, P = 1.8 x 10-07).
    Title: Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
  6. The combination of low Pellino3 levels together with high and inducible Pellino1 expression may be an important determinant of the degree of inflammation triggered upon Toll-like receptor 2 engagement by Helicobacter pylori and/or its components, contributing to Helicobacter pylori-associated pathogenesis by directing the incoming signal toward an NF-kB-mediated proinflammatory response.
    Title: Differential modulation of Helicobacter pylori lipopolysaccharide-mediated TLR2 signaling by individual Pellino proteins.
  7. Pellino-3 is involved in endotoxin tolerance and functions as a negative regulator of Toll-like receptor 2/4 signaling.
    Title: Pellino-3 promotes endotoxin tolerance and acts as a negative regulator of TLR2 and TLR4 signaling.
  8. Peptide PEL3 derived from the interleukin-1 receptor-associated kinase (IRAK)1-binding motif reveals a distinct phosphothreonine peptide binding preference.
    Title: The pellino e3 ubiquitin ligases recognize specific phosphothreonine motifs and have distinct substrate specificities.
  9. Our findings identify RIP2 as a substrate for Pellino3 and Pellino3 as an important mediator in the Nod2 pathway and regulator of intestinal inflammation.
    Title: Pellino3 ubiquitinates RIP2 and mediates Nod2-induced signaling and protective effects in colitis.
  10. suggest that Pellino 3b acts as a negative regulator for IL-1 signaling by regulating IRAK degradation through its ubiquitin protein ligase activity [Pellino 3b]
    Title: Pellino 3b negatively regulates interleukin-1-induced TAK1-dependent NF kappaB activation.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC35521

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein K63-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of Toll signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
E3 ubiquitin-protein ligase pellino homolog 3
Names
RING-type E3 ubiquitin transferase pellino homolog 3
pellino homolog 3
protein pellino homolog 3
NP_001091980.1
NP_001230064.1
NP_001230065.1
NP_659502.2
XP_011543186.1
XP_047282659.1
XP_054224257.1
XP_054224258.1

NCBI Reference Sequences (RefSeq)

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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
    5579..16011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098510.2 → NP_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
    Related
    ENSP00000309848.8, ENST00000349459.10
    Conserved Domains (1) summary
    pfam04710
    Location:37 → 445
    Pellino; Pellino

  2. NM_001243135.2 → NP_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
    ENSP00000484220.1, ENST00000618547.4
    Conserved Domains (1) summary
    pfam04710
    Location:37 → 406
    Pellino; Pellino

  3. NM_001243136.2 → NP_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:1 → 362
    Pellino

  4. NM_145065.3 → NP_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, Q8N3E1, Q8N9Q6, Q8TAW7, Q8TED5
    Related
    ENSP00000322532.7, ENST00000320740.12
    Conserved Domains (1) summary
    pfam04710
    Location:37 → 469
    Pellino; Pellino

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047426703.1 → XP_047282659.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform X2

  2. XM_011544884.3 → XP_011543186.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform X1

    See identical proteins and their annotated locations for XP_011543186.1

    UniProtKB/Swiss-Prot
    Q8N2H9, Q8N3E1, Q8N9Q6, Q8TAW7, Q8TED5
    Conserved Domains (1) summary
    pfam04710
    Location:37 → 469
    Pellino; Pellino

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66462584..66473594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368283.1 → XP_054224258.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform X2

  2. XM_054368282.1 → XP_054224257.1  E3 ubiquitin-protein ligase pellino homolog 3 isoform X1

    UniProtKB/Swiss-Prot
    Q8N2H9, Q8N3E1, Q8N9Q6, Q8TAW7, Q8TED5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N2H9.2 GenPept UniProtKB/Swiss-Prot:Q8N2H9

Gene LinkOut

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