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

Summary

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: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (66466327..66477337)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (66462584..66473594)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66233798..66244808)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
PELI3 gene expression in blood and ovarian cancer.
Title: Role of a novel circulatory RNA-based biomarker panel expression in ovarian cancer.
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†.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.3.2.27

NP_001230064.1

EC 2.3.2.27

NP_001230065.1

EC 2.3.2.27

NP_659502.2

EC 2.3.2.27

XP_011543186.1

EC 2.3.2.27

XP_047282659.1

EC 2.3.2.27

XP_054224257.1

EC 2.3.2.27

XP_054224258.1

EC 2.3.2.27

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

NG_029627.1 RefSeqGene

Range

5579..16011

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

66466327..66477337

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060935.1 Alternate T2T-CHM13v2.0

Range

66462584..66473594

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368283.1 → XP_054224258.1 E3 ubiquitin-protein ligase pellino homolog 3 isoform X2
XM_054368282.1 → XP_054224257.1 E3 ubiquitin-protein ligase pellino homolog 3 isoform X1

UniProtKB/Swiss-Prot

Q8N2H9, Q8N3E1, Q8N9Q6, Q8TAW7, Q8TED5