• Gene id: 246330

Gene Summary

• Gene Symbol: PELI3   Gene   UCSC   Ensembl
• Gene name: pellino E3 ubiquitin protein ligase family member 3
• Alternate names: E3 ubiquitin-protein ligase pellino homolog 3, RING-type E3 ubiquitin transferase pellino homolog 3, pellino homolog 3, protein pellino homolog 3,
• Gene location: 11q13.2 (66466326: 66477336)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 609827

Protein Summary

• Protein general information: Q8N2H9  
  • Name: E3 ubiquitin protein ligase pellino homolog 3 (Pellino 3) (EC 2.3.2.27) (RING type E3 ubiquitin transferase pellino homolog 3)
  • Length: 469  
  • Mass: 50755
  • 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
• Sequence:

  MVLEGNPEVGSPRTSDLQHRGNKGSCVLSSPGEDAQPGEEPIKYGELIVLGCCEEGGEETEAQRGEVTGPRAHSC
  YNGCLASGDKGRRRSRLALSRRSHANGVKPDVMHHISTPLVSKALSNRGQHSISYTLSRSHSVIVEYTHDSDTDM
  FQIGRSTENMIDFVVTDTSPGGGAAEGPSAQSTISRYACRILCDRRPPYTARIYAAGFDASSNIFLGERAAKWRT
  PDGLMDGLTTNGVLVMHPAGGFSEDSAPGVWREISVCGNVYTLRDSRSAQQRGKLVENESNVLQDGSLIDLCGAT
  LLWRTPAGLLRAPTLKQLEAQRQEANAARPQCPVGLSTLAFPSPARGRTAPDKQQPWVYVRCGHVHGYHGWGCRR
  ERGPQERECPLCRLVGPYVPLWLGQEAGLCLDPGPPSHAFAPCGHVCSEKTARYWAQTPLPHGTHAFHAACPFCG
  AWLTGEHGCVRLIFQGPLD

• Structural information:
  • Interpro: IPR006800  
  • DIP: 31770
  • STRING: ENSP00000322532
• Other Databases: GeneCards:  PELI3  Malacards:  PELI3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070534	protein K63-linked ubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0008063	Toll signaling pathway	IBA	biological process
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0000209	protein polyubiquitination	IEA	biological process
GO:0008592	regulation of Toll signaling pathway	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0010804	negative regulation of tumor necrosis factor-mediated signaling pathway	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0070498	interleukin-1-mediated signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)