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

Gene ID: 29108, updated on 26-Nov-2021

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
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
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Genomic context

See PYCARD in Genome Data Viewer
Location:
16p11.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (31201486..31202760, complement)
105.20201022 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 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

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

Homology

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 involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
enables cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
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 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 activation of cysteine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in activation of innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process IBA
Inferred from Biological aspect of Ancestor
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 inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
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 I-kappaB kinase/NF-kappaB signaling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
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 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 NF-kappaB transcription factor activity IPI
Inferred from Physical Interaction
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 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 involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
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 interferon-gamma production ISS
Inferred from Sequence or Structural Similarity
more info
 
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-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 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 protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
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 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 IDA
Inferred from Direct Assay
more info
PubMed 
part_of NLRP3 inflammasome complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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
 
part_of inflammasome complex IPI
Inferred from Physical Interaction
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 nucleoplasm IDA
Inferred from Direct Assay
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
    Q9ULZ3
    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/Swiss-Prot
    Q9ULZ3
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    31201486..31202760 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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