PYCARD Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | PYCARD |
| Official Name | PYD and CARD domain containing [Source:HGNC Symbol;Acc:HGNC:16608] |
| Ensembl ID | ENSG00000103490 |
| Bio databases IDs | |
| Aliases | PYD and CARD domain containing, apoptosis-associated speck-like, apoptosis-associated speck-like protein containing a CARD |
| Synonyms | ASC, CARD5, hASC, MGC10332, PYD and CARD domain containing, TMS, TMS-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PYCARD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- transcription regulator
- PAAD/DAPIN/Pyrin domain
- protease binding
- tropomyosin binding
- enzyme binding
- protein domain specific binding
- protein binding
- receptor binding
- identical protein binding
- Caspase recruitment domain
- interleukin-6 receptor binding
- ion channel binding
- protein homodimerization
- myosin I binding
- Death Domain Superfamily of protein-protein interaction domains
Pathways
Biological processes and signaling networks where the PYCARD gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diabetic nephropathy
- dermatomyositis
- rheumatoid arthritis
- systemic lupus erythematosus
- diabetic retinopathy
- skin squamous cell carcinoma
- squamous cell skin cancer
- relapsing-remitting multiple sclerosis
- pulmonary emphysema
- nonexudative age-related macular degeneration
role in cell
- phosphorylation in
- expression in
- apoptosis
- cell death
- survival
- molecular cleavage in
- transmembrane potential
- activation in
- formation
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- secretory granule lumen
- azurophil granule lumen
- Extracellular Space
- cell periphery
- filamentous network
- Nucleus
- Mitochondria
- granules
- cytosol
- Golgi membrane
- nucleoplasm
- nucleoli
- perinuclear vesicles
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PYCARD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis
- negative regulation of cytokine production involved in inflammatory response
- icosanoid biosynthetic process
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of NF-kappaB transcription factor activity
- positive regulation of T cell activation
- apoptotic process
- positive regulation of interferon-gamma production
- defense response to virus
- positive regulation of tumor necrosis factor production
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- positive regulation of chemokine production
- defense response to Gram-positive bacterium
- negative regulation of interferon-beta production
- negative regulation of NF-kappaB transcription factor activity
- positive regulation of inflammatory response
- protein homooligomerization
- positive regulation of activated T cell proliferation
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
- positive regulation of T cell migration
- tumor necrosis factor-mediated signaling pathway
- positive regulation of interleukin-8 production
- signal transduction by p53 class mediator resulting in induction of apoptosis
- regulation of autophagy
- positive regulation of phagocytosis
- positive regulation of cysteine-type endopeptidase activity
- positive regulation of interleukin-6 production
- osmosensory signaling pathway
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- pattern recognition receptor signaling pathway
- positive regulation of macrophage cytokine production
- activation of innate immune response
- pyroptosis
- cellular response to tumor necrosis factor
- regulation of intrinsic apoptotic signaling pathway
- defense response to Gram-negative bacterium
- signal transduction
- positive regulation of release of cytochrome c from mitochondria
- positive regulation of defense response to virus by host
- NLRP3 inflammasome complex assembly
- myeloid dendritic cell activation involved in immune response
- myeloid dendritic cell activation
- positive regulation of antigen processing and presentation of peptide antigen via MHC class II
- positive regulation of adaptive immune response
- regulation of protein stability
- macropinocytosis
- cellular response to lipopolysaccharide
- innate immune response
- positive regulation of JNK cascade
- regulation of tumor necrosis factor-mediated signaling pathway
- positive regulation of apoptotic process
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of actin filament polymerization
- cellular response to interleukin-1
- positive regulation of extrinsic apoptotic signaling pathway
- positive regulation of interleukin-10 production
- negative regulation of protein serine/threonine kinase activity
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- IkappaB kinase complex
- endoplasmic reticulum
- Golgi membrane
- neuronal cell body
- nucleolus
- extracellular region
- nucleoplasm
- microtubule
- nucleus
- cytoplasm
- AIM2 inflammasome complex
- mitochondrion
- NLRP1 inflammasome complex
- cytosol
- macromolecular complex
- secretory granule lumen
- azurophil granule lumen
- NLRP3 inflammasome complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- protease binding
- protein dimerization activity
- Pyrin domain binding
- ion channel binding
- cysteine-type endopeptidase activator activity involved in apoptotic process
- tropomyosin binding
- interleukin-6 receptor binding
- protein binding
- myosin I binding
- BMP receptor binding
- enzyme binding