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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
    mouse all
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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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    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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    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
    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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