• Gene id: 260434

Gene Summary

• Gene Symbol: PYDC1   Gene   UCSC   Ensembl
• Aliases: ASC2, POP1, PYC1, cPOP1
• Gene name: pyrin domain containing 1
• Alternate names: pyrin domain-containing protein 1, PAAD-only protein 1, PYD (pyrin domain) containing 1, cellular POP1, pyrin-only protein 1,
• Gene location: 16p11.2 (31217134: 31215961)     Exons: 30     NC_000016.10
• OMIM: 615700

Protein Summary

• Protein general information: Q8WXC3  
  • Name: Pyrin domain containing protein 1 (PAAD only protein 1) (Pyrin only protein 1) (cellular POP1) (cPOP1)
  • Length: 89  
  • Mass: 10107
  • Tissue specificity: Predominantly expressed in monocytes, macrophages and granulocytes. {ECO
• Sequence:

  MGTKREAILKVLENLTPEELKKFKMKLGTVPLREGFERIPRGALGQLDIVDLTDKLVASYYEDYAAELVVAVLRD
  MRMLEEAARLQRAA

• Structural information:
  • Protein Domains: (1..8-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061"-)
  • Interpro: IPR004020  IPR011029  IPR002398  
  • Prosite: PS50824
  • PDB: 2HM2 4QOB
  • PDBsum: 2HM2 4QOB
  • STRING: ENSP00000304336
• Other Databases: GeneCards:  PYDC1  Malacards:  PYDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006469	negative regulation of protein kinase activity	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0045087	innate immune response	IDA	biological process
GO:0008385	IkappaB kinase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0010804	negative regulation of tumor necrosis factor-mediated signaling pathway	IMP	biological process
GO:1900226	negative regulation of NLRP3 inflammasome complex assembly	IMP	NOT|biological process
GO:0050713	negative regulation of interleukin-1 beta secretion	IMP	NOT|biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	NOT|biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)