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PYCARD PYD and CARD domain containing [ Homo sapiens (human) ]

Gene ID: 29108, updated on 26-Apr-2015
Official Symbol
PYCARDprovided by HGNC
Official Full Name
PYD and CARD domain containingprovided by HGNC
Primary source
HGNC:HGNC:16608
See related
Ensembl:ENSG00000103490; HPRD:06020; MIM:606838; Vega:OTTHUMG00000176753
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASC; TMS; TMS1; CARD5; TMS-1
Summary
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 death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
See PYCARD in MapViewer
Location:
16p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (31201486..31202776, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31212807..31214097, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene protease, serine, 36 Neighboring gene FUS RNA binding protein Neighboring gene PYCARD antisense RNA 1 Neighboring gene tripartite motif containing 72, E3 ubiquitin protein ligase Neighboring gene PYD (pyrin domain) containing 1 Neighboring gene integrin, alpha M (complement component 3 receptor 3 subunit)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • C-type lectin receptors (CLRs), organism-specific biosystem (from REACTOME)
    C-type lectin receptors (CLRs), organism-specific biosystemPathogen recognition is central to the induction of T cell differentiation. Groups of pathogens share similar structures known as pathogen-associated molecular patterns (PAMPs), which are recognised ...
  • CLEC7A (Dectin-1) signaling, organism-specific biosystem (from REACTOME)
    CLEC7A (Dectin-1) signaling, organism-specific biosystemCLEC7A (also known as Dectin-1) is a pattern-recognition receptor (PRR) expressed by myeloid cells (macrophages, dendritic cells and neutrophils) that detects pathogens by binding to beta-1,3-glucans...
  • CLEC7A/inflammasome pathway, organism-specific biosystem (from REACTOME)
    CLEC7A/inflammasome pathway, organism-specific biosystemAntifungal immunity through the induction of T-helper 17 cells (TH17) responses requires the production of mature, active interleukin-1beta (IL1B). CLEC7A (dectin-1) through the SYK route induces act...
  • Cytosolic DNA-sensing pathway, organism-specific biosystem (from KEGG)
    Cytosolic DNA-sensing pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
  • Cytosolic DNA-sensing pathway, conserved biosystem (from KEGG)
    Cytosolic DNA-sensing pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting foreign DNA from invading microbes or host cells and generating innate immune responses. DAI is the first identified s...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammasomes, organism-specific biosystem (from REACTOME)
    Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
  • Influenza A, organism-specific biosystem (from KEGG)
    Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
  • Influenza A, conserved biosystem (from KEGG)
    Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Legionellosis, organism-specific biosystem (from KEGG)
    Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Legionellosis, conserved biosystem (from KEGG)
    Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • NOD pathway, organism-specific biosystem (from WikiPathways)
    NOD pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • Pertussis, organism-specific biosystem (from KEGG)
    Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Pertussis, conserved biosystem (from KEGG)
    Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • The AIM2 inflammasome, organism-specific biosystem (from REACTOME)
    The AIM2 inflammasome, organism-specific biosystemAIM2 is a member of the PYHIN or HIN200 family. It has a C-terminal HIN domain which can bind double-stranded DNA (dsDNA) and a PYD domain that can bind ASC via a PYD-PYD interaction. In cells expres...
  • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
    The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC10332

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BMP receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Pyrin domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
interleukin-6 receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
myosin I binding IPI
Inferred from Physical Interaction
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
tropomyosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
activation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cellular response to interleukin-1 IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to lipopolysaccharide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to tumor necrosis factor IDA
Inferred from Direct Assay
more info
PubMed 
defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to virus IDA
Inferred from Direct Assay
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
interleukin-1 beta production IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
macropinocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
myeloid dendritic cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
myeloid dendritic cell activation involved in immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of interferon-beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of JNK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of T cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of actin filament polymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of activated T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of adaptive immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of antigen processing and presentation of peptide antigen via MHC class II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of chemokine secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of defense response to virus by host IEA
Inferred from Electronic Annotation
more info
 
positive regulation of extrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interferon-gamma production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-1 beta secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-10 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-6 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-8 secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phagocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tumor necrosis factor production IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein stability ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
AIM2 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with IkappaB kinase complex IDA
Inferred from Direct Assay
more info
PubMed 
IkappaB kinase complex TAS
Traceable Author Statement
more info
PubMed 
NLRP1 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
NLRP3 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
apoptosis-associated speck-like protein containing a CARD
Names
apoptosis-associated speck-like protein containing a CARD
caspase recruitment domain-containing protein 5
target of methylation-induced silencing 1

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.

Genomic

  1. NG_029446.1 RefSeqGene

    Range
    5001..6291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_013258.4NP_037390.2  apoptosis-associated speck-like protein containing a CARD isoform a

    See identical proteins and their annotated locations for NP_037390.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB023416
    Consensus CDS
    CCDS10708.1
    UniProtKB/Swiss-Prot
    Q9ULZ3
    Conserved Domains (2) summary
    cd08321
    Location:586
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cd08330
    Location:113193
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
  2. NM_145182.2NP_660183.1  apoptosis-associated speck-like protein containing a CARD isoform b

    See identical proteins and their annotated locations for NP_660183.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. It maintains the same reading frame, and encodes a shorter isoform (b) missing a segment of 19 aa, compared to isoform a.
    Source sequence(s)
    AB023416, AF255794
    Consensus CDS
    CCDS10709.1
    UniProtKB/Swiss-Prot
    Q9ULZ3
    Related
    ENSP00000340441, OTTHUMP00000163240, ENST00000350605, OTTHUMT00000255540
    Conserved Domains (2) summary
    cd08321
    Location:586
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    cd08330
    Location:94174
    CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    31201486..31202776
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    32530520..32531810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145183.1: Suppressed sequence

    Description
    NM_145183.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.