PELI1 pellino E3 ubiquitin protein ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PELI1provided by HGNC
Official Full Name: pellino E3 ubiquitin protein ligase 1provided by HGNC
Primary source: HGNC:HGNC:8827
See related: Ensembl:ENSG00000197329 MIM:614797; AllianceGenome:HGNC:8827
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables ubiquitin-ubiquitin ligase activity. Involved in several processes, including negative regulation of TORC1 signaling; negative regulation of necroptotic process; and protein polyubiquitination. Is active in site of double-strand break. Implicated in colorectal cancer. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 57.0), esophagus (RPKM 14.7) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p14

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (64092652..64144420, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (64100282..64152062, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (64319786..64371554, complement)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PELI1 overexpression contributes to pancreatic cancer progression through upregulating ubiquitination-mediated INPP5J degradation.
Title: PELI1 overexpression contributes to pancreatic cancer progression through upregulating ubiquitination-mediated INPP5J degradation.
Pellino1 orchestrates gut-kidney axis to perpetuate septic acute kidney injury through activation of STING pathway and NLRP3 inflammasome.
Title: Pellino1 orchestrates gut-kidney axis to perpetuate septic acute kidney injury through activation of STING pathway and NLRP3 inflammasome.
PELI1: key players in the oncogenic characteristics of pancreatic Cancer.
Title: PELI1: key players in the oncogenic characteristics of pancreatic Cancer.
Aberrant expression of PELI1 caused by Jagged1 accelerates the malignant phenotype of pancreatic cancer.
Title: Aberrant expression of PELI1 caused by Jagged1 accelerates the malignant phenotype of pancreatic cancer.
Cardiomyocyte-specific Peli1 contributes to the pressure overload-induced cardiac fibrosis through miR-494-3p-dependent exosomal communication.
Title: Cardiomyocyte-specific Peli1 contributes to the pressure overload-induced cardiac fibrosis through miR-494-3p-dependent exosomal communication.
Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.
Title: Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.
miR-590-5p Overexpression Alleviates beta-Amyloid-Induced Neuron Damage via Targeting Pellino-1.
Title: miR-590-5p Overexpression Alleviates β-Amyloid-Induced Neuron Damage via Targeting Pellino-1.
PELI1 promotes radiotherapy sensitivity by inhibiting noncanonical NF-kappaB in esophageal squamous cancer.
Title: PELI1 promotes radiotherapy sensitivity by inhibiting noncanonical NF-κB in esophageal squamous cancer.
MiR-30c-5p loss-induced PELI1 accumulation regulates cell proliferation and migration via activating PI3K/AKT pathway in papillary thyroid carcinoma.
Title: MiR-30c-5p loss-induced PELI1 accumulation regulates cell proliferation and migration via activating PI3K/AKT pathway in papillary thyroid carcinoma.
MiR-301a-3p Advances IRAK1-Mediated Differentiation of Th17 Cells to Promote the Progression of Systemic Lupus Erythematosus via Targeting PELI1.
Title: MiR-301a-3p Advances IRAK1-Mediated Differentiation of Th17 Cells to Promote the Progression of Systemic Lupus Erythematosus via Targeting PELI1.

Submit: New GeneRIF Correction See all GeneRIFs (39)

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
A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in Koreans identifies susceptibility loci for allergic nickel dermatitis. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of pellino E3 ubiquitin protein ligase 1 (PELI1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-142642 (e-PCR)
- UniSTS:183305

D2S1618E (e-PCR)
- UniSTS:22604

G19846 (e-PCR)
- UniSTS:13669

A002A16 (e-PCR)
- UniSTS:13670

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

G44334 (e-PCR)
- UniSTS:95121

RH12405 (e-PCR)
- UniSTS:61335

D2S1694E (e-PCR)
- UniSTS:150723

A009Q06 (e-PCR)
- UniSTS:83405

STS-T76997 (e-PCR)
- UniSTS:57556

RH80031 (e-PCR)
- UniSTS:91103

RH76159 (e-PCR)
- UniSTS:84968

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	EXP Inferred from Experiment more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-ubiquitin ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-ubiquitin ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of B cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	TAS Traceable Author Statement more info
involved_in positive regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of toll-like receptor 3 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of toll-like receptor 4 signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K48-linked ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K63-linked ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Toll signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of necroptotic process	TAS Traceable Author Statement more info
involved_in response to dsRNA	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase pellino homolog 1

Names: RING-type E3 ubiquitin transferase pellino homolog 1; pellino homolog 1; pellino-1; pellino-related intracellular-signaling molecule; protein pellino homolog 1

NP_065702.2

EC 2.3.2.27

XP_011531296.1

EC 2.3.2.27

XP_011531299.1

EC 2.3.2.27

XP_016860009.1

EC 2.3.2.27

XP_047301093.1

EC 2.3.2.27

XP_047301095.1

EC 2.3.2.27

XP_047301096.1

EC 2.3.2.27

XP_054199049.1

EC 2.3.2.27

XP_054199050.1

EC 2.3.2.27

XP_054199051.1

EC 2.3.2.27

XP_054199052.1

EC 2.3.2.27

XP_054199053.1

EC 2.3.2.27

XP_054199054.1

EC 2.3.2.27

XP_054199055.1

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.

mRNA and Protein(s)

NM_020651.4 → NP_065702.2 E3 ubiquitin-protein ligase pellino homolog 1

Status: VALIDATED

Source sequence(s)

BC050019, BM992606

Consensus CDS

CCDS1876.1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26

Related

ENSP00000351789.4, ENST00000358912.5

Conserved Domains (1) summary

pfam04710
Location:10 → 418

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

64092652..64144420 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017004520.2 → XP_016860009.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26

Conserved Domains (1) summary

pfam04710
Location:10 → 418

Pellino
XM_047445137.1 → XP_047301093.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_011532994.4 → XP_011531296.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26

Conserved Domains (1) summary

pfam04710
Location:10 → 418

Pellino
XM_047445139.1 → XP_047301095.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_047445140.1 → XP_047301096.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X2
XM_011532997.3 → XP_011531299.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X3

Conserved Domains (1) summary

pfam04710
Location:1 → 239

Pellino

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

64100282..64152062 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343074.1 → XP_054199049.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_054343076.1 → XP_054199051.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_054343075.1 → XP_054199050.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_054343077.1 → XP_054199052.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

UniProtKB/Swiss-Prot

Q96FA3, Q96SM0, Q9GZY5, Q9HCX0

UniProtKB/TrEMBL

D6W5E7, Q53T26
XM_054343079.1 → XP_054199054.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X4
XM_054343080.1 → XP_054199055.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X3
XM_054343078.1 → XP_054199053.1 E3 ubiquitin-protein ligase pellino homolog 1 isoform X2