NLRP1 Gene Summary [Human]

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Details

Type
Nonsense Mediated Decay
Official Symbol
NLRP1
Official Name
NLR family pyrin domain containing 1 [Source:HGNC Symbol;Acc:HGNC:14374]
Ensembl ID
ENSG00000091592
Bio databases IDs NCBI: 22861 Ensembl: ENSG00000091592
Aliases NLR family pyrin domain containing 1, nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1
Synonyms AIADK, CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, Gm14, Gm15, JRRP, KIAA0926, LOC730994, LT629147.4, LT629150.2, LT629153.3, MSPC, NAC, NALP1, Nalp1a, NLR family pyrin domain containing 1, NLR family, pyrin domain containing 1A, Nlrp1a, PP1044, SLEV1, VAMAS1
Species
Human, Homo sapiens
OrthologiesMouse

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 NLRP1 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
  • NOD2 winged helix domain
  • peptidase
  • protein binding activity, bridging
  • ATP binding
  • Leucine rich repeat
  • NACHT domain
  • protease activator
  • ATPase
  • nucleotide-binding domain
  • Caspase recruitment domain
  • double-stranded RNA binding
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • signaling receptor activity
  • enzyme binding
  • FIIND domain
  • linker domain
  • protein domain specific binding
  • enzyme regulator activity
  • protein binding
  • Function to find
  • endopeptidase
  • double-stranded DNA binding
  • Leucine rich repeat, ribonuclease inhibitor type
  • Death Domain Superfamily of protein-protein interaction domains

Pathways

Biological processes and signaling networks where the NLRP1 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
  • organismal death
  • metastatic colorectal cancer
  • endometrial cancer
  • autoinflammation with arthritis and dyskeratosis
  • multiple self-healing palmoplantar carcinomas
  • androgenic alopecia
  • Crohn disease
  • familial multiple sclerosis
  • systemic lupus erythematosus
regulated by
  • bucladesine
  • METTL3
  • K+
  • Nlrp1b
  • NLRP10
  • neutrophils
  • poly rI:rC-RNA
  • FAS
  • Anaplasma phagocytophilum
  • LEF
regulates
role in cell
  • activation in
  • cell viability
  • apoptosis
  • cell death
  • production in
  • autophagy in
  • binding in
  • molecular cleavage in
  • autophagy
  • assembly in

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
  • perinuclear region
  • Nucleus
  • cytosol
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NLRP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to muramyl dipeptide
  • signal transduction
  • positive regulation of inflammatory response
  • protein homooligomerization
  • regulation of apoptotic process
  • defense response to bacterium
  • pattern recognition receptor signaling pathway
  • cellular response to UV-B
  • self proteolysis
  • apoptotic process
  • pyroptosis
  • regulation of inflammatory response
  • defense response to virus
  • activation of cysteine-type endopeptidase activity involved in apoptotic process
  • neuron apoptotic process
  • positive regulation of interleukin-1 beta production

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • NLRP1 inflammasome complex
  • cytosol
  • nucleolus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • ATP binding
  • protein domain specific binding
  • protein binding
  • signaling adaptor activity
  • double-stranded RNA binding
  • double-stranded DNA binding
  • peptidase activity
  • cysteine-type endopeptidase activator activity involved in apoptotic process
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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