NLRP6 Gene Summary [Human]
The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Details
| Type | Protein Coding |
| Official Symbol | NLRP6 |
| Official Name | NLR family pyrin domain containing 6 [Source:HGNC Symbol;Acc:HGNC:22944] |
| Ensembl ID | ENSG00000174885 |
| Bio databases IDs | |
| Aliases | NLR family pyrin domain containing 6, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6 |
| Synonyms | AVR, CLR11.4, LOC100912017, LOC103690037, LOC108348167, NALP6, NAVR, NAVR/AVR, NLR family pyrin domain containing 6, NLR family, pyrin domain containing 6, Non-AVR, PAN3, PYPAF5 |
| 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 NLRP6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- NLRC4 helical domain HD2
- peptide binding
- PAAD/DAPIN/Pyrin domain
- NOD2 winged helix domain
- protein phosphatase 1 regulatory subunit 42
- signaling receptor activity
- vasopressin receptor
- protein binding activity, bridging
- protein binding
- NACHT domain
- lipopolysaccharide binding
- binding protein
- Leucine rich repeat, ribonuclease inhibitor type
- double-stranded RNA binding
- Death Domain Superfamily of protein-protein interaction domains
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the NLRP6 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
- neoplasia
- colitis-associated cancer
- weight loss
- edema
- gastrointestinal neoplasia
- dextran sodium sulfate-induced colitis
- colorectal cancer
- pneumonitis
- colitis
- bleeding
role in cell
- degradation in
- phosphorylation in
- expression in
- colony formation
- proliferation
- binding in
- ubiquitination in
- autophagy by
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- organelle
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLRP6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neutrophil mediated killing of gram-positive bacterium
- positive regulation of interleukin-18-mediated signaling pathway
- G-protein coupled receptor signaling pathway
- negative regulation of toll-like receptor signaling pathway
- positive regulation of inflammatory response
- protein homooligomerization
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of inflammatory response to antigenic stimulus
- wound healing
- response to bacterium
- homeostasis of number of cells in a free-living population
- acute inflammatory response
- regulation of mucus secretion
- acute inflammatory response to antigenic stimulus
- necroptosis
- negative regulation of ERK1 and ERK2 cascade
- regulation of autophagy
- pyroptosis
- regulation of inflammatory response
- defense response to virus
- negative regulation of interferon-gamma production
- defense response to Gram-positive bacterium
Cellular Component
Where in the cell the gene product is active
- nuclear membrane
- cytoplasm
- cytosol
- non-membrane-bounded organelle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- double-stranded RNA binding
- signaling adaptor activity
- lipoteichoic acid binding
- vasopressin receptor activity
- peptide binding
- lipopolysaccharide binding