NLRP12 Gene Summary [Human]
This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Details
| Type | Protein Coding |
| Official Symbol | NLRP12 |
| Official Name | NLR family pyrin domain containing 12 [Source:HGNC Symbol;Acc:HGNC:22938] |
| Ensembl ID | ENSG00000142405 |
| Bio databases IDs | |
| Aliases | NLR family pyrin domain containing 12, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 |
| Synonyms | CLR19.3, FCAS2, LOC115489386, LOC381948, MONARCH1, NACHT, NALP12, NLR family pyrin domain containing 12, NLR family, pyrin domain containing 12, PAN6, PYPAF7, RNO, RNO2 |
| 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 NLRP12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NLRC4 helical domain HD2
- PAAD/DAPIN/Pyrin domain
- Fish-specific NACHT associated domain
- NOD2 winged helix domain
- protein phosphatase 1 regulatory subunit 42
- walker type B motif
- protein binding activity, bridging
- walker type A motif
- Leucine rich repeat
- linker domain
- protein binding
- NACHT domain
- nucleotide-binding domain
- leucine-rich repeat
- Leucine rich repeat, ribonuclease inhibitor type
- Death Domain Superfamily of protein-protein interaction domains
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the NLRP12 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
- familial cold autoinflammatory syndrome 2
- renal clear cell adenocarcinoma
- renal clear cell cancer
- autoinflammatory disorder
- familial multiple sclerosis
- colon cancer
- pericarditis
- early-onset schizophrenia
- HER2 negative hormone receptor negative breast cancer
role in cell
- migration
- expression in
- cell death
- quantity
- proliferation
- phosphorylation in
- activation in
- formation in
- production in
- formation
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NLRP12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of interleukin-1 production
- negative regulation of NF-kappaB transcription factor activity
- signal transduction
- negative regulation of inflammatory response
- positive regulation of inflammatory response
- regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of Toll signaling pathway
- positive regulation of MHC class I biosynthetic process
- negative regulation of I-kappaB kinase/NF-kappaB cascade
- negative regulation of interleukin-6 production
- ERK1 and ERK2 cascade
- negative regulation of signal transduction
- regulation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of ERK1 and ERK2 cascade
- apoptotic process
- regulation of interleukin-18 production
- cellular response to cytokine stimulus
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- negative regulation of cytokine production
- negative regulation of protein autophosphorylation
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- protein binding, bridging
- cysteine-type endopeptidase activator activity involved in apoptotic process