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

    Gene ID: 29108, updated on 23-May-2018
    Official Symbol
    PYCARDprovided by HGNC
    Official Full Name
    PYD and CARD domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:16608
    See related
    Ensembl:ENSG00000103490 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]
    Expression
    Broad expression in spleen (RPKM 25.5), colon (RPKM 25.4) and 22 other tissues See more
    Orthologs
    See PYCARD in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6 Neighboring gene FUS RNA binding protein Neighboring gene PYCARD antisense RNA 1 Neighboring gene tripartite motif containing 72 Neighboring gene pyrin domain containing 1 Neighboring gene integrin subunit alpha M

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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-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...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
      Nucleotide-binding Oligomerization Domain (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...
    • 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 
    cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    interleukin-6 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    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 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 IBA
    Inferred from Biological aspect of Ancestor
    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 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 NF-kappaB transcription factor activity IPI
    Inferred from Physical Interaction
    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 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 tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 
    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 
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    apoptosis-associated speck-like protein containing a CARD
    Names
    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
      Related
      ENSP00000247470.9, OTTHUMP00000163239, ENST00000247470.9, OTTHUMT00000255539
      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
      ENSP00000340441.4, OTTHUMP00000163240, ENST00000350605.4, 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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      31201486..31202776 complement
      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.
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