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

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: all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sirtuin 6 Deacetylates Apoptosis-Associated Speck-Like Protein (ASC) to Inhibit Endothelial Cell Pyroptosis in Atherosclerosis.
Title: Sirtuin 6 Deacetylates Apoptosis-Associated Speck-Like Protein (ASC) to Inhibit Endothelial Cell Pyroptosis in Atherosclerosis.
PYCARD gene polymorphisms and susceptibility to periodontal and coronary heart diseases.
Title: PYCARD gene polymorphisms and susceptibility to periodontal and coronary heart diseases.
The Mechanism of Osteoprotegerin-Induced Osteoclast Pyroptosis In Vitro.
Title: The Mechanism of Osteoprotegerin-Induced Osteoclast Pyroptosis In Vitro.
The Inflammasome Activity of NLRP3 Is Independent of NEK7 in HEK293 Cells Co-Expressing ASC.
Title: The Inflammasome Activity of NLRP3 Is Independent of NEK7 in HEK293 Cells Co-Expressing ASC.
Salmonella enterica Serovar Typhimurium Induces NAIP/NLRC4- and NLRP3/ASC-Independent, Caspase-4-Dependent Inflammasome Activation in Human Intestinal Epithelial Cells.
Title: Salmonella enterica Serovar Typhimurium Induces NAIP/NLRC4- and NLRP3/ASC-Independent, Caspase-4-Dependent Inflammasome Activation in Human Intestinal Epithelial Cells.
Expression of a PYCARD/ASC variant lacking exon 2 in Japanese patients with palindromic rheumatism increases interleukin-1beta secretion.
Title: Expression of a PYCARD/ASC variant lacking exon 2 in Japanese patients with palindromic rheumatism increases interleukin-1β secretion.
The central inflammasome adaptor protein ASC activates the inflammasome after transition from a soluble to an insoluble state.
Title: The central inflammasome adaptor protein ASC activates the inflammasome after transition from a soluble to an insoluble state.
Apoptosis-associated speck-like protein containing a CARD regulates the growth of pancreatic ductal adenocarcinoma.
Title: Apoptosis-associated speck-like protein containing a CARD regulates the growth of pancreatic ductal adenocarcinoma.
Characterizing the NLRP3 Inflammasome in Mood Disorders: Overview, Technical Development, and Measures of Peripheral Activation in Adolescent Patients.
Title: Characterizing the NLRP3 Inflammasome in Mood Disorders: Overview, Technical Development, and Measures of Peripheral Activation in Adolescent Patients.
Aberrant Hypermethylation-Mediated Suppression of PYCARD Is Extremely Frequent in Prostate Cancer with Gleason Score >/= 7.
Title: Aberrant Hypermethylation-Mediated Suppression of PYCARD Is Extremely Frequent in Prostate Cancer with Gleason Score ≥ 7.

Submit: New GeneRIF Correction See all GeneRIFs (136)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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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)

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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

NG_029446.1 RefSeqGene

Range

5017..6291

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013258.5 → NP_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:5 → 86

Pyrin_ASC-like; Pyrin Death Domain found in ASC

cd08330
Location:113 → 193

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins
NM_145182.3 → NP_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:5 → 86

Pyrin_ASC-like; Pyrin Death Domain found in ASC

cd08330
Location:94 → 174

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31201486..31202760 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.