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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| NLRP3 | 114548 | NLR family, pyrin domain containing 3 | 1 | AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1 |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 26378020 | 2015 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 40 Stage : - | - | Down-regulation | - | The extent of NLRC3 and AIM2 gene reduction was correlated with cancer progression. |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Nucleotide-binding domain and leucine rich repeat containing |
| Description | This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008 | Chromosome | 1 |
| Location | 1q44 |
| Start | 247579247 |
| End | 247612410 |
| Strand | + |
| Gene Sequence | Download Select all |
| Length | 33164 |
| OMIM ID | 606416 |
| HGNC ID | HGNC:16400 |
| Unigene ID | Hs.159483 |
| Ensembl ID | ENSG00000162711 |
| PharmGKB ID | PA26512 |
Protein Information
| Protein ID | NP_001073289.1 |
|---|---|
| Protein Name | NLR family, pyrin domain containing 3 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 1036 |
| Uniprot ID | Q9BWX5 |
| Ensembl Protein ID | ENSP00000252997 |
Post-translational Modification Information (Source : HPRD)
No matching records could be found.
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Influenza A | hsa05164 |
| NOD-like receptor signaling pathway | hsa04621 |
| Pertussis | hsa05133 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00116 | 575-951 | LRR_RI |
| cl23707 | 575-951 | LRR_RI superfamily |
| cd08320 | Oct-93 | Pyrin_NALPs |
| cl14633 | Oct-93 | DD superfamily |
| pfam05729 | 220-389 | NACHT |
| cl21455 | 220-389 | P-loop_NTPase superfamily |
| pfam02758 | Jun-89 | PYRIN |
| pfam14484 | 144-209 | FISNA |
| cl20537 | 144-209 | FISNA superfamily |
| cd08321 | Jul-86 | Pyrin_ASC-like |
| cd00116 | 885-1031 | LRR_RI |
| cl23707 | 885-1031 | LRR_RI superfamily |
| cd08305 | Oct-88 | Pyrin |
| smart00368 | 797-824 | LRR_RI |
| cl23353 | 797-824 | LRR_RI superfamily |
| cd00116 | 912-1006 | LRR_RI |
| smart00368 | 740-767 | LRR_RI |
| smart00368 | 968-995 | LRR_RI |
| cl23353 | 968-995 | LRR_RI superfamily |
| smart00368 | 911-938 | LRR_RI |
| pfam13855 | 913-981 | LRR_8 |
| COG5238 | 726-1033 | RNA1 |
| COG4886 | 885-1006 | LRR |
| COG4886 | 739-924 | LRR |
Ontology Information
| HPRD ID | 18290 |
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Transporter activity (GO:0005215) |
| Biological Process | Transport (GO:0006810) |
Drug Information
No matching records could be found.