• Gene id: 29108

Gene Summary

• Gene Symbol: PYCARD   Gene   UCSC   Ensembl
• Aliases: ASC, CARD5, TMS, TMS-1, TMS1
• Gene name: PYD and CARD domain containing
• Alternate names: apoptosis-associated speck-like protein containing a CARD, caspase recruitment domain-containing protein 5, target of methylation-induced silencing 1,
• Gene location: 16p11.2 (31202775: 31201485)     Exons: 3     NC_000016.10
• Gene summary(Entrez): This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle d
• OMIM: 610116

Protein Summary

• Protein general information: Q9ULZ3  
  • Name: Apoptosis associated speck like protein containing a CARD (hASC) (Caspase recruitment domain containing protein 5) (PYD and CARD domain containing protein) (Target of methylation induced silencing 1)
  • Length: 195  
  • Mass: 21627
  • Tissue specificity: Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in skeletal muscle, heart and brain. Expressed
• Sequence:

  MGRARDAILDALENLTAEELKKFKLKLLSVPLREGYGRIPRGALLSMDALDLTDKLVSFYLETYGAELTANVLRD
  MGLQEMAGQLQAATHQGSGAAPAGIQAPPQSAAKPGLHFIDQHRAALIARVTNVEWLLDALYGKVLTDEQYQAVR
  AEPTNPSKMRKLFSFTPAWNWTCKDLLLQALRESQSYLVEDLERS

• Structural information:
  • Protein Domains: (1..9-)
    (/note="Pyrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00061-)
    (107..19-)
    (/note="CARD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00046"-)
  • Interpro: IPR001315  IPR033516  IPR004020  IPR011029  IPR002398  
  • Prosite: PS50209 PS50824
  • CDD: cd08330
  • PDB: 1UCP 2KN6 3J63 5H8O 6N1H
  • PDBsum: 1UCP 2KN6 3J63 5H8O 6N1H
  • DIP: 27618
  • STRING: ENSP00000247470
• Other Databases: GeneCards:  PYCARD  Malacards:  PYCARD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032991	protein-containing complex	IDA	cellular component
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0032731	positive regulation of interleukin-1 beta production	IMP	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0032090	Pyrin domain binding	IPI	molecular function
GO:0032090	Pyrin domain binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0008385	IkappaB kinase complex	TAS	cellular component
GO:0050718	positive regulation of interleukin-1 beta secretion	IDA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006915	apoptotic process	IBA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:2001242	regulation of intrinsic apoptotic signaling pathway	IDA	biological process
GO:2001238	positive regulation of extrinsic apoptotic signaling pathway	IDA	biological process
GO:0072559	NLRP3 inflammasome complex	IDA	cellular component
GO:0071901	negative regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0071356	cellular response to tumor necrosis factor	IDA	biological process
GO:0071222	cellular response to lipopolysaccharide	IDA	biological process
GO:0051607	defense response to virus	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IDA	biological process
GO:0008385	IkappaB kinase complex	IDA	colocalizes with
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IDA	biological process
GO:0097169	AIM2 inflammasome complex	IDA	cellular component
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IDA	biological process
GO:0072558	NLRP1 inflammasome complex	IDA	cellular component
GO:0071347	cellular response to interleukin-1	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0002218	activation of innate immune response	IDA	biological process
GO:0000139	Golgi membrane	IDA	cellular component
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:2000406	positive regulation of T cell migration	ISS	biological process
GO:0090197	positive regulation of chemokine secretion	IMP	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	IMP	biological process
GO:0032755	positive regulation of interleukin-6 production	ISS	biological process
GO:0002588	positive regulation of antigen processing and presentation of peptide antigen via MHC class II	ISS	biological process
GO:2001181	positive regulation of interleukin-10 secretion	IMP	biological process
GO:2000778	positive regulation of interleukin-6 secretion	IMP	biological process
GO:2000484	positive regulation of interleukin-8 secretion	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0050870	positive regulation of T cell activation	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:0050829	defense response to Gram-negative bacterium	IMP	biological process
GO:0050766	positive regulation of phagocytosis	ISS	biological process
GO:0046330	positive regulation of JNK cascade	IMP	biological process
GO:0044351	macropinocytosis	ISS	biological process
GO:0042104	positive regulation of activated T cell proliferation	ISS	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:0032729	positive regulation of interferon-gamma production	ISS	biological process
GO:0032688	negative regulation of interferon-beta production	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0031647	regulation of protein stability	ISS	biological process
GO:0030838	positive regulation of actin filament polymerization	ISS	biological process
GO:0010803	regulation of tumor necrosis factor-mediated signaling pathway	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0002821	positive regulation of adaptive immune response	IMP	biological process
GO:0002277	myeloid dendritic cell activation involved in immune response	ISS	biological process
GO:0001773	myeloid dendritic cell activation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1900016	negative regulation of cytokine production involved in inflammatory response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005523	tropomyosin binding	IPI	molecular function
GO:0070700	BMP receptor binding	IPI	molecular function
GO:0005138	interleukin-6 receptor binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017024	myosin I binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0044325	ion channel binding	IEA	molecular function
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:2000406	positive regulation of T cell migration	IEA	biological process
GO:0090197	positive regulation of chemokine secretion	IEA	biological process
GO:0050727	regulation of inflammatory response	IEA	biological process
GO:0032755	positive regulation of interleukin-6 production	IEA	biological process
GO:0032611	interleukin-1 beta production	IEA	biological process
GO:0010506	regulation of autophagy	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0002588	positive regulation of antigen processing and presentation of peptide antigen via MHC class II	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0002020	protease binding	IEA	molecular function
GO:0097202	activation of cysteine-type endopeptidase activity	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0050718	positive regulation of interleukin-1 beta secretion	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0044351	macropinocytosis	IEA	biological process
GO:0043281	regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042104	positive regulation of activated T cell proliferation	IEA	biological process
GO:0032729	positive regulation of interferon-gamma production	IEA	biological process
GO:0031647	regulation of protein stability	IEA	biological process
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0002277	myeloid dendritic cell activation involved in immune response	IEA	biological process
GO:0002230	positive regulation of defense response to virus by host	IEA	biological process
GO:0002218	activation of innate immune response	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008656	cysteine-type endopeptidase activator activity involved in apoptotic process	NAS	molecular function
GO:0005737	cytoplasm	NAS	cellular component
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IPI	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04621	NOD-like receptor signaling pathway
hsa04217	Necroptosis
hsa05164	Influenza A
hsa05135	Yersinia infection
hsa04625	C-type lectin receptor signaling pathway
hsa05133	Pertussis
hsa04623	Cytosolic DNA-sensing pathway
hsa05134	Legionellosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R