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

Gene ID: 57162, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Expression
Broad expression in bone marrow (RPKM 57.0), esophagus (RPKM 14.7) and 19 other tissues See more
Orthologs
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Genomic context

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See PELI1 in Genome Data Viewer
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_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 742 Neighboring gene VPS54 subunit of GARP complex Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11545 Neighboring gene uncharacterized LOC124907774 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11546 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64297588-64298088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303262-64303843 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:64303844-64304424 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:64306933-64308132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15881 Neighboring gene MPRA-validated peak3731 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15883 Neighboring gene long intergenic non-protein coding RNA 309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15884 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:64454691-64455400 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:64455401-64456109 Neighboring gene uncharacterized LOC100507006 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:64479283-64479984

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. PELI1 overexpression contributes to pancreatic cancer progression through upregulating ubiquitination-mediated INPP5J degradation. Zhou W, et al. Cell Signal, 2024 Aug. PMID 38685520
  2. MiR-153-3p induces immune dysregulation by inhibiting PELI1 expression in umbilical cord-derived mesenchymal stem cells in patients with systemic lupus erythematosus. Li D, et al. Autoimmunity, 2020 Jun. PMID 32321315
  3. Pellino-1 Protects Periodontal Ligament Stem Cells Against H(2)O(2)-Induced Apoptosis via Activation of NF-κB Signaling. Tian J, et al. Mol Biotechnol, 2018 Aug. PMID 29860626
  4. PELI1 promotes radiotherapy sensitivity by inhibiting noncanonical NF-κB in esophageal squamous cancer. Dai D, et al. Mol Oncol, 2022 Mar. PMID 34738714, Free PMC Article
  5. Pellino-1 promotes lung carcinogenesis via the stabilization of Slug and Snail through K63-mediated polyubiquitination. Jeon YK, et al. Cell Death Differ, 2017 Mar. PMID 28009353, Free PMC Article

See all (79) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. PELI1: key players in the oncogenic characteristics of pancreatic Cancer.
    Title: PELI1: key players in the oncogenic characteristics of pancreatic Cancer.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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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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
A genome-wide association study in Koreans identifies susceptibility loci for allergic nickel dermatitis.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

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

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

  • MGC50990, DKFZp686C18116

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
XP_011531296.1
XP_011531299.1
XP_016860009.1
XP_047301093.1
XP_047301095.1
XP_047301096.1
XP_054199049.1
XP_054199050.1
XP_054199051.1
XP_054199052.1
XP_054199053.1
XP_054199054.1
XP_054199055.1

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.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_065702.2

    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

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    64092652..64144420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. XM_011532994.4 → XP_011531296.1  E3 ubiquitin-protein ligase pellino homolog 1 isoform X1

    See identical proteins and their annotated locations for XP_011531296.1

    UniProtKB/Swiss-Prot
    Q96FA3, Q96SM0, Q9GZY5, Q9HCX0
    UniProtKB/TrEMBL
    D6W5E7, Q53T26
    Conserved Domains (1) summary
    pfam04710
    Location:10 → 418
    Pellino

  4. 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

  5. XM_047445140.1 → XP_047301096.1  E3 ubiquitin-protein ligase pellino homolog 1 isoform X2

  6. 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

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    64100282..64152062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. XM_054343079.1 → XP_054199054.1  E3 ubiquitin-protein ligase pellino homolog 1 isoform X4

  6. XM_054343080.1 → XP_054199055.1  E3 ubiquitin-protein ligase pellino homolog 1 isoform X3

  7. XM_054343078.1 → XP_054199053.1  E3 ubiquitin-protein ligase pellino homolog 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96FA3.2 GenPept UniProtKB/Swiss-Prot:Q96FA3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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