PYDC1 (PYD-Containing Protein 1)
Inflammasome Regulator and Apoptosis-Associated Speck-Like Protein
Gene Information Card
| Symbol | PYDC1 |
|---|---|
| Full Name | PYD (pyrin domain) containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 260434 ncbi.nlm.nih.gov/gene/260434 |
| Ensembl ID | ENSG00000103490 |
| UniProt ID | Q9ULZ3 |
| OMIM ID | 606838 |
| HGNC ID | 30179 |
| Aliases | ASC, TMS1, CARD5, MGC10325 |
Description
PYDC1 encodes the apoptosis-associated speck-like protein containing a CARD (ASC), a key adaptor protein that bridges pyrin domain-containing sensors and caspase-1 in inflammasome complexes. ASC mediates pyroptosis, inflammation, and apoptosis, and its dysregulation is implicated in autoinflammatory diseases and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cryopyrin-Associated Periodic Syndromes (CAPS) | Gain-of-function mutations in NLRP3 lead to ASC-dependent inflammasome hyperactivation and IL-1β overproduction. | ClinVar, OMIM |
| Familial Mediterranean Fever (FMF) | MEFV mutations alter pyrin-ASC interactions, causing dysregulated inflammasome assembly. | OMIM, NCBI |
| Breast Cancer | Epigenetic silencing of PYDC1 via promoter methylation reduces ASC expression, impairing apoptosis and promoting tumorigenesis. | COSMIC, NCBI |
| Colorectal Cancer | Loss of ASC expression correlates with poor prognosis and increased metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole Blood | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Low |
| Bone Marrow | 5.4 | Low |
| Lymph Node | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocytic leukemia) | 15.2 | High baseline; induced by LPS |
| HEK293 (embryonic kidney) | 0.3 | Very low endogenous expression |
| MCF7 (breast cancer) | 1.1 | Reduced due to promoter methylation |
| HCT116 (colorectal carcinoma) | 0.8 | Silenced in many lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; reduced ASC protein |
| c.169C>T (p.Arg57Trp) | Missense | <0.01% | Impaired ASC oligomerization; decreased inflammasome activity |
| c.274G>A (p.Gly92Ser) | Missense | <0.01% | Altered CARD domain; reduced caspase-1 recruitment |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt ASC oligomerization or CARD domain integrity (e.g., p.Arg57Trp, p.Gly92Ser) impair inflammasome assembly and IL-1β processing.
Gain of Function (GOF)
Not well-documented; most reported variants are loss-of-function or hypomorphic.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg57Trp) can act dominant-negatively by forming non-functional ASC specks that sequester wild-type ASC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NLRP3 Inflammasome Pathway (Reactome R-HSA-844456)
• Pyroptosis (KEGG hsa04217)
• Apoptosis (KEGG hsa04210)
Protein Summary
ASC (PYDC1) is a 22 kDa adaptor protein composed of an N-terminal pyrin domain (PYD) and a C-terminal caspase recruitment domain (CARD). It forms filamentous specks that nucleate inflammasome complexes, linking sensor proteins (e.g., NLRP3, AIM2) to pro-caspase-1. ASC also shuttles to the nucleus to regulate p53-mediated apoptosis. Its expression is frequently silenced by DNA methylation in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYDC1 Knockout HEK293 Cell Line | EDJ-KQ14964 | Human | 260434 | Details Get a Quote |
| PYDC1 Knockout HeLa Cell Line | EDJ-KQ59348 | Human | 260434 | Details Get a Quote |
| PYDC1 Knockout A-549 Cell Line | EDJ-KQ67811 | Human | 260434 | Details Get a Quote |
| PYDC1 Knockout HCT 116 Cell Line | EDJ-KQ76197 | Human | 260434 | Details Get a Quote |
