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

    Gene ID: 29108, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:16608
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PYCARD in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (31201486..31202760, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31588907..31590181, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (31212807..31214081, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10751 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31190697-31191457 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31191458-31192219 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31192220-31192980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31193602-31194102 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 6 Neighboring gene FUS RNA binding protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31212912-31213542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7416 Neighboring gene PYCARD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31224931-31225846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31225847-31226761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31227677-31228591 Neighboring gene tripartite motif containing 72 Neighboring gene pyrin domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31255701-31256205 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31256206-31256709 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:31257215-31257717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10759 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:31276375-31277574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31282603-31283128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31283129-31283654 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:31284654-31285853 Neighboring gene integrin subunit alpha M Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:31295357-31296556 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31336636-31336863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7417

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10332

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables Pyrin domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cysteine-type endopeptidase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type endopeptidase activator activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables interleukin-6 receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables myosin I binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pattern recognition receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane transporter binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tropomyosin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NLRP3 inflammasome complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activation of innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to interleukin-1 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in defense response to Gram-positive bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to virus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in icosanoid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in macropinocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myeloid dendritic cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myeloid dendritic cell activation involved in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cytokine production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interferon-beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in osmosensory signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in pattern recognition receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of T cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of T cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of actin filament polymerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of activated T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of adaptive immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of antigen processing and presentation of peptide antigen via MHC class II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of chemokine production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of defense response to virus by host IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of interleukin-1 beta production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-10 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-8 production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of macrophage cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in positive regulation of phagocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of type II interferon production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pyroptotic inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of protein stability ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of tumor necrosis factor-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in tumor necrosis factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of AIM2 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of AIM2 inflammasome complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of IkappaB kinase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of IkappaB kinase complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of NLRP1 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP1 inflammasome complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of NLRP3 inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of NLRP3 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of NLRP3 inflammasome complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of NLRP6 inflammasome complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    part_of canonical inflammasome complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of canonical inflammasome complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in microtubule NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    apoptosis-associated speck-like protein containing a CARD
    Names
    caspase recruitment domain-containing protein 5
    target of methylation-induced silencing 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5017..6291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013258.5NP_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
      Q96D12, Q9BSZ5, Q9HBD0, Q9NXJ8, Q9ULZ3
      UniProtKB/TrEMBL
      B2RAZ4
      Related
      ENSP00000247470.9, ENST00000247470.10
      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_145182.3NP_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/TrEMBL
      B2RAZ4
      Related
      ENSP00000340441.4, ENST00000350605.4
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      31201486..31202760 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31588907..31590181 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.