Gene Gene information from NCBI Gene database.
Entrez ID 246330
Gene name Pellino E3 ubiquitin protein ligase family member 3
Gene symbol PELI3
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q13.2
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 tr
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT647632 hsa-miR-7109-3p HITS-CLIP 23824327
MIRT647631 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT647630 hsa-miR-885-5p HITS-CLIP 23824327
MIRT647628 hsa-miR-4469 HITS-CLIP 23824327
MIRT647629 hsa-miR-4786-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 12874243, 19081057, 25814554, 32814053
GO:0005829 Component Cytosol TAS
GO:0008592 Process Regulation of Toll signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609827 30010 ENSG00000174516
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N2H9
Protein name E3 ubiquitin-protein ligase pellino homolog 3 (Pellino-3) (EC 2.3.2.27)
Protein function E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:12874243, PubMed:17675297). Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04710 Pellino 71 469 Pellino Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, heart and testis, and at lower level in kidney, liver, lung, placenta, small intestine, spleen and stomach. Isoform 1 is not expressed in lung. {ECO:0000269|PubMed:12874243}.
Sequence
Sequence length 469
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Interleukin-1 signaling
IRAK1 recruits IKK complex
IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Inflammation Associate 32366870
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 31520466
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 31520466
★☆☆☆☆
Found in Text Mining only
Sjogren's Syndrome Associate 32366870
★☆☆☆☆
Found in Text Mining only