NLRP13: A Pyrin Domain-Containing NLR Family Member
NLRP13 gene structure, expression, and clinical relevance
Gene Information Card
| Symbol | NLRP13 |
|---|---|
| Full Name | NLR family pyrin domain containing 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 126204 ncbi.nlm.nih.gov/gene/126204 |
| Ensembl ID | ENSG00000173531 |
| UniProt ID | Q86W24 |
| OMIM ID | 609649 |
| HGNC ID | 22942 |
| Aliases | CLR19.7, NALP13, PAN13, PYPAF13 |
Description
NLRP13 is a member of the NLR (nucleotide-binding domain and leucine-rich repeat containing) family, characterized by an N-terminal pyrin domain (PYD), a central NACHT domain, and C-terminal leucine-rich repeats (LRRs). It is involved in the regulation of inflammatory and apoptotic pathways, potentially acting as a component of inflammasome complexes. The gene is located on chromosome 19q13.43 and is predominantly expressed in immune-related tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No established disease association | Not determined | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 3.2 | Low |
| Lymph node | 2.8 | Low |
| Bone marrow | 2.1 | Low |
| Whole blood | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 1.8 | Low expression |
| HEK 293 | 0.5 | Very low expression |
| HeLa | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • protein homodimerization activity |
| • inflammasome complex | • innate immune response |
| • apoptotic process |
Pathways
• NOD-like receptor signaling pathway (KEGG: hsa04621)
• Inflammasome pathway (Reactome: R-HSA-844456)
Protein Summary
NLRP13 is a 1,041-amino acid protein containing a pyrin domain (residues 1-90), a NACHT domain (residues 200-400), and multiple leucine-rich repeats (residues 600-1000). It is predicted to localize to the cytoplasm and may participate in the assembly of inflammasomes, though its specific ligands and activation mechanisms remain poorly characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLRP13 Knockout HEK293 Cell Line | EDJ-KQ8867 | Human | 126204 | Details Get a Quote |
| NLRP13 Knockout HeLa Cell Line | EDJ-KQ58168 | Human | 126204 | Details Get a Quote |
| NLRP13 Knockout A-549 Cell Line | EDJ-KQ66656 | Human | 126204 | Details Get a Quote |
| NLRP13 Knockout HCT 116 Cell Line | EDJ-KQ75074 | Human | 126204 | Details Get a Quote |
