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Entry version 217 (07 Apr 2021)
Sequence version 1 (01 Jun 2001)
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Protein

NACHT, LRR and PYD domains-containing protein 1

Gene

NLRP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:33093214). Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Binds ATP and shows ATPase activity (PubMed:11113115, PubMed:15212762, PubMed:33243852). Plays an important role in antiviral immunity and inflammation in the human airway epithelium. Upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion (PubMed:33093214). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). Acts as a direct sensor for long dsRNA and thus RNA virus infection (PubMed:33243852). Positive-strand RNA viruses such as Semliki forest virus and long dsRNA activate the NLRP1 inflammasome, triggering IL1B release in a NLRP1-dependent fashion (PubMed:33243852).By similarity11 Publications
It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957).2 Publications

Miscellaneous

In macrophages and dendritic cells, NLRP1 inflammasome activation of CASP1 and IL1B maturation can be dampened by direct contact with activated effector and memory T-cells. This effect may be mediated by hexameric TNF ligands, such as CD40LG.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

ATPase activity is activated by dsRNA-binding but not dsDNA-binding.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei1186Trigger for autolytic processing1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi334 – 341ATPPROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processHost-virus interaction, Immunity, Inflammatory response, Innate immunity
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9C000

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-844455, The NLRP1 inflammasome

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9C000

Protein family/group databases

MEROPS protease database

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MEROPSi
S79.002

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NACHT, LRR and PYD domains-containing protein 1Curated (EC:3.6.4.-1 Publication)
Alternative name(s):
Caspase recruitment domain-containing protein 7
Death effector filament-forming ced-4-like apoptosis protein
Nucleotide-binding domain and caspase recruitment domain
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NLRP1Imported
Synonyms:CARD7, DEFCAP, KIAA0926, NAC1 Publication, NALP11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:14374, NLRP1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606636, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9C000

Eukaryotic Pathogen, Vector and Host Database Resources

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VEuPathDBi
HostDB:ENSG00000091592.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Inflammasome, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Vitiligo-associated multiple autoimmune disease 1 (VAMAS1)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_033239155L → H in VAMAS1; risk factor. 2 PublicationsCorresponds to variant dbSNP:rs12150220EnsemblClinVar.1
Palmoplantar carcinoma, multiple self-healing (MSPC)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07879854A → T in MSPC; increased NLRP1-inflammasome complex assembly; altered protein folding. 1 PublicationCorresponds to variant dbSNP:rs1057519492EnsemblClinVar.1
Natural variantiVAR_07879966A → V in MSPC; increased NLRP1-inflammasome complex assembly; altered protein folding. 1 PublicationCorresponds to variant dbSNP:rs1057519493EnsemblClinVar.1
Natural variantiVAR_06990177M → T in MSPC; destabilization of the N-terminal fragment. 2 PublicationsCorresponds to variant dbSNP:rs397514692EnsemblClinVar.1
Natural variantiVAR_078801787 – 843Missing in MSPC; increased NLRP1-inflammasome complex assembly. 1 PublicationAdd BLAST57
Autoinflammation with arthritis and dyskeratosis (AIADK)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078800726R → W in AIADK; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776245016EnsemblClinVar.1
Natural variantiVAR_0788021214P → R in AIADK; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057524876EnsemblClinVar.1
Respiratory papillomatosis, juvenile recurrent, congenital (JRRP)1 Publication
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083844755T → N in JRRP; gain-of-function variant resulting in spontaneous inflammasome activation; increased NLRP1-inflammasome complex assembly. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi76Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi85Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi87Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi110Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi130Q → A: Inhibits cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi139Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi158Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi171Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi191Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi199Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi205Q → A: No effect on cleavage by HRV-14 Protease 3C. 1 Publication1
Mutagenesisi339 – 340GK → EA: Loss of ATP binding. 1 Publication2
Mutagenesisi340K → L or S: No effect. 1 Publication1
Mutagenesisi1168H → A: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine. 1 Publication1
Mutagenesisi1186H → A: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing can be restored by treatment with hydroxylamine. 1 Publication1
Mutagenesisi1211S → A: Partial loss of autocatalytic processing and of IL1B release. 1 Publication1
Mutagenesisi1212F → A: Complete loss of autocatalytic processing and of IL1B release. 2 Publications1
Mutagenesisi1213S → A: Complete loss of autocatalytic processing and of IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine. Loss of activation by dsRNA or positive-strand RNA virus. 3 Publications1
Mutagenesisi1213S → C: Complete loss of autocatalytic processing, which can be restored by treatment with hydroxylamine. 1 Publication1
Mutagenesisi1214P → A: Partial loss of autocatalytic processing (50%) and of IL1B release (50%). 1 Publication1
Mutagenesisi1249H → A: Complete loss of autocatalytic processing and IL1B release. Autocatalytic processing cannot be restored by treatment with hydroxylamine. 1 Publication1

Keywords - Diseasei

Disease variant, Ectodermal dysplasia

Organism-specific databases

DisGeNET

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DisGeNETi
22861

MalaCards human disease database

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MalaCardsi
NLRP1
MIMi606579, phenotype
615225, phenotype
617388, phenotype
618803, phenotype

Open Targets

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OpenTargetsi
ENSG00000091592

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
352662, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
3435, NON RARE IN EUROPE: Vitiligo

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162397797

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9C000, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1741214

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NLRP1

Domain mapping of disease mutations (DMDM)

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DMDMi
17380146

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000967101 – 1473NACHT, LRR and PYD domains-containing protein 1Add BLAST1473

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autocatalytically cleaved. Autocatalytic cleavage in FIIND region occurs constitutively, prior to activation signals, and is required for inflammasome activity (IL1B release), possibly by facilitating CASP1 binding. Both N- and C-terminal fragments remain associated.3 Publications
(Microbial infection) Cleaved between Gln-130 and Gly-131 by human rhinovirus 14 (HRV-14) Protease 3C. This cleavage triggers N-glycine-mediated proteasomal degradation of the autoinhibitory NLRP1 N-terminal fragment via the cullin:ZER1/ZYG11B complex which liberates the activating C-terminal fragment and activates NLRP1 inflammasome.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei130 – 131Cleavage; by human rhinovirus 14 (HRV-14) Protease 3C1 Publication2
Sitei1212 – 1213Cleavage; by autolysisPROSITE-ProRule annotation1 Publication2

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9C000

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9C000

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9C000

PeptideAtlas

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PeptideAtlasi
Q9C000

PRoteomics IDEntifications database

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PRIDEi
Q9C000

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
19812
79931 [Q9C000-1]
79932 [Q9C000-2]
79933 [Q9C000-3]
79934 [Q9C000-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9C000

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9C000

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed (PubMed:11113115, PubMed:17164409). Abundantly expressed in primary immune cells (isoform 1 and isoform 2), including in neutrophils, monocytes/macrophages, dendritic cells (mostly Langerhans cells), and B- and T-lymphocytes (at protein level) (PubMed:15285719, PubMed:17164409). Strongly expressed in epithelial cells lining the glandular epithelium, such as that of the gastrointestinal tract (stomach, small intestine, colon), the respiratory tract (trachea and bronchi), and the endometrial and endocervical glands, gallbladder, prostate, and breast (at protein level). In testis, expressed in spermatogonia and primary spermatocytes, but not in Sertoli cells (at protein level). In the brain, expressed in neurons, in particular in pyramidal ones and in oligodendrocytes, but not detected in microglia (at protein level) (PubMed:17164409). Expressed in adult and fetal ocular tissues, including in adult and 24-week old fetal choroid, sclera, cornea, and optic nerve, as well as in adult retina and fetal retina/retinal pigment epithelium (PubMed:23349227). Highly expressed in the skin throughout the epidermis and in dermal fibroblasts, in both glabrous skin and plantar skin. It is detected in keratinocytes, but not in melanocytes. Expressed in epidermal appendages such as hair follicles (PubMed:27662089).5 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Associated with differentiation in stratified epithelia of the skin, esophagus, intestine, and cervix, as well as in the prostate gland. Undetectable in undifferentiated basal cells, but expressed in differentiated luminal secretory cells (PubMed:11113115). Expressed in differentiated macrophages and granulocytes, but not their precursors (at protein level) (PubMed:11113115, PubMed:15285719). In testis, also associated with cell differentiation, with conflicting results. Expressed in spermatogonia and primary spermatocytes, but not in cells from later differentiation stages, including secondary spermatocytes, spermatids, and spermatozoa (at protein level) (PubMed:17164409). Not detected in spermatocytes, nor spermatids, and strongly expressed in spermatozoa (at protein level) (PubMed:11113115).3 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by ATF4 during endoplasmic reticulum (ER) stress response (PubMed:26086088). Up-regulated in arterial endothelial cells exposed to plasma from patients with peripheral arterial disease, but not to plasma from healthy controls (PubMed:24439873).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000091592, Expressed in pituitary gland and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9C000, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9C000, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000091592, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Sensor component of NLRP1 inflammasomes. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. Classical inflammasomes consist of a signal sensor component, an adapter (ASC/PYCARD), which recruits an effector proinflammatory caspase (CASP1 and CASP5). This interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD molecules to the speck in a prion-like polymerization process. CASP1 filament formation increases local enzyme concentration, resulting in trans-autocleavage and activation. Active CASP1 then processes IL1B and IL18 precursors, leading to the release of mature cytokines in the extracellular milieu and inflammatory response. In NLRP1 inflammasome, the role of PYCARD is not clear. Following activation, NLRP1 can directly interact with CASP1 (possibly through CARD domain) to form a functional inflammasome, although the presence of PYCARD increases CASP1 activity (PubMed:17418785, PubMed:17349957). In a different experimental system, neither CASP1-binding, NLRP1 inflammasome speck formation, nor IL1B release were observed in the absence of PYCARD (PubMed:22665479, PubMed:12191486). Hence PYCARD may not be necessary for NLRP1 and CASP1 interaction, but is required for speck formation and full inflammasome activity (By similarity). Homomer (PubMed:17349957).

Interacts (via LRR repeats) with BCL2 and BCL2L1 (via the loop between motifs BH4 and BH3); these interactions reduce NLRP1 inflammasome-induced CASP1 activation and IL1B release, possibly by impairing NLRP1 interaction with PYCARD (PubMed:17418785).

Interacts with NOD2; this interaction is enhanced in the presence of muramyl dipeptide (MDP) and increases IL1B release (PubMed:18511561).

Interacts with EIF2AK2/PKR; this interaction requires EIF2AK2 activity, is accompanied by EIF2AK2 autophosphorylation and promotes inflammasome assembly in response to danger-associated signals (By similarity).

Interacts with MEFV; this interaction targets NLRP1 to degradation by autophagy, hence preventing excessive IL1B- and IL18-mediated inflammation (PubMed:17431422, PubMed:26347139). Binds (via LRR domain) to dsDNA and dsRNA (PubMed:33243852).

By similarity8 Publications

(Microbial infection) Interacts with vaccinia virus protein F1 (PubMed:16439990).

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116529, 18 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-4082, NLRP1 inflammasome

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9C000

Database of interacting proteins

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DIPi
DIP-38407N

Protein interaction database and analysis system

More...
IntActi
Q9C000, 13 interactors

Molecular INTeraction database

More...
MINTi
Q9C000

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000478516

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9C000

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9C000, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11473
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...
BMRBi
Q9C000

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9C000

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9C000

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1 – 92PyrinPROSITE-ProRule annotationAdd BLAST92
Domaini328 – 637NACHTPROSITE-ProRule annotationAdd BLAST310
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati809 – 830LRR 1Add BLAST22
Repeati838 – 858LRR 2Add BLAST21
Repeati866 – 887LRR 3Add BLAST22
Repeati895 – 915LRR 4Add BLAST21
Repeati923 – 944LRR 5Add BLAST22
Repeati950 – 973LRR 6Add BLAST24
Domaini1079 – 1364FIINDPROSITE-ProRule annotationAdd BLAST286
Domaini1374 – 1463CARDPROSITE-ProRule annotationAdd BLAST90

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The CARD domain, rather than the pyrin domain, is involved in the interaction with PYCARD, CASP1 and CASP5.3 Publications
The leucine-rich repeat (LRR) domain may be involved in autoinhibition in the absence of activating signal, possibly through intramolecular interaction with the NACHT domain. Serves as the predominant binding domain for dsRNA and dsDNA (PubMed:33243852).By similarity3 Publications
The FIIND (domain with function to find) region is involved in homomerization, but not in CASP1-binding (By similarity). Autocatalytic cleavage in this region occurs constitutively, prior to activation signals, and is required for inflammasome activity (IL1B release), possibly by facilitating CASP1 binding. Both N- and C-terminal fragments remain associated (PubMed:22665479, PubMed:22087307).By similarity2 Publications
The pyrin domain mediates an autoinhibitory function, potentially acting as a threshold modulator, which allows NLRP1 to discriminate long from short dsRNA. Inhibits ATPase activity of the NATCH domain.1 Publication
Upon dsRNA-binding via its LRR domain, NACHT domain gains ATPase activity which is inhibited by the pyrin domain.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the NLRP family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502S4A4, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000162176

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_002274_2_4_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9C000

Identification of Orthologs from Complete Genome Data

More...
OMAi
YFTEESQ

Database of Orthologous Groups

More...
OrthoDBi
114368at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9C000

TreeFam database of animal gene trees

More...
TreeFami
TF340267

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08330, CARD_ASC_NALP1, 1 hit

Database of protein disorder

More...
DisProti
DP00554

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001315, CARD
IPR033516, CARD8/ASC/NALP1_CARD
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR025307, FIIND_dom
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR007111, NACHT_NTPase
IPR041267, NLRP_HD2
IPR041075, NOD2_WH
IPR027417, P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00619, CARD, 1 hit
PF13553, FIIND, 1 hit
PF13516, LRR_6, 3 hits
PF05729, NACHT, 1 hit
PF17776, NLRC4_HD2, 1 hit
PF17779, NOD2_WH, 1 hit
PF02758, PYRIN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01289, PYRIN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47986, SSF47986, 2 hits
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50209, CARD, 1 hit
PS50824, DAPIN, 1 hit
PS51830, FIIND, 1 hit
PS51450, LRR, 3 hits
PS50837, NACHT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 7 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9C000-1) [UniParc]FASTAAdd to basket
Also known as: NAC beta, DEFCAP-L, NALP1-L1 Publication

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG
60 70 80 90 100
MEVASYLVAQ YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP
110 120 130 140 150
SEPHLGSPSQ PTSTAVLMPW IHELPAGCTQ GSERRVLRQL PDTSGRRWRE
160 170 180 190 200
ISASLLYQAL PSSPDHESPS QESPNAPTST AVLGSWGSPP QPSLAPREQE
210 220 230 240 250
APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT PPQAHTSLQP
260 270 280 290 300
HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW
310 320 330 340 350
PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA
360 370 380 390 400
WGRGQLYGDR FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS
410 420 430 440 450
RPERLLFILD GVDEPGWVLQ EPSSELCLHW SQPQPADALL GSLLGKTILP
460 470 480 490 500
EASFLITART TALQNLIPSL EQARWVEVLG FSESSRKEYF YRYFTDERQA
510 520 530 540 550
IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL TLTSKTTTTL
560 570 580 590 600
CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI
610 620 630 640 650
ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI
660 670 680 690 700
IDLEKTLEAY GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL
710 720 730 740 750
MQWVPSLQLL LQPHSLESLH CLYETRNKTF LTQVMAHFEE MGMCVETDME
760 770 780 790 800
LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS PTMVVLFRWV PVTDAYWQIL
810 820 830 840 850
FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE TLRLAGCGLT
860 870 880 890 900
AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ
910 920 930 940 950
LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA
960 970 980 990 1000
CKLIRLGLDQ TTLSDEMRQE LRALEQEKPQ LLIFSRRKPS VMTPTEGLDT
1010 1020 1030 1040 1050
GEMSNSTSSL KRQRLGSERA ASHVAQANLK LLDVSKIFPI AEIAEESSPE
1060 1070 1080 1090 1100
VVPVELLCVP SPASQGDLHT KPLGTDDDFW GPTGPVATEV VDKEKNLYRV
1110 1120 1130 1140 1150
HFPVAGSYRW PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN PQHSWMVAGP
1160 1170 1180 1190 1200
LLDIKAEPGA VEAVHLPHFV ALQGGHVDTS LFQMAHFKEE GMLLEKPARV
1210 1220 1230 1240 1250
ELHHIVLENP SFSPLGVLLK MIHNALRFIP VTSVVLLYHR VHPEEVTFHL
1260 1270 1280 1290 1300
YLIPSDCSIR KAIDDLEMKF QFVRIHKPPP LTPLYMGCRY TVSGSGSGML
1310 1320 1330 1340 1350
EILPKELELC YRSPGEDQLF SEFYVGHLGS GIRLQVKDKK DETLVWEALV
1360 1370 1380 1390 1400
KPGDLMPATT LIPPARIAVP SPLDAPQLLH FVDQYREQLI ARVTSVEVVL
1410 1420 1430 1440 1450
DKLHGQVLSQ EQYERVLAEN TRPSQMRKLF SLSQSWDRKC KDGLYQALKE
1460 1470
THPHLIMELW EKGSKKGLLP LSS
Length:1,473
Mass (Da):165,866
Last modified:June 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i438F0DCE45C2562D
GO
Isoform 2 (identifier: Q9C000-2) [UniParc]FASTAAdd to basket
Also known as: NAC alpha, DEFCAP-S, NALP1-S1 Publication, NLRP1deltaEx14

The sequence of this isoform differs from the canonical sequence as follows:
     1262-1305: Missing.

Show »
Length:1,429
Mass (Da):160,946
Checksum:i6C5CBE8FD2819435
GO
Isoform 3 (identifier: Q9C000-3) [UniParc]FASTAAdd to basket
Also known as: NAC gamma

The sequence of this isoform differs from the canonical sequence as follows:
     958-987: Missing.
     1262-1305: Missing.

Show »
Length:1,399
Mass (Da):157,319
Checksum:i59C172B75766F38F
GO
Isoform 4 (identifier: Q9C000-4) [UniParc]FASTAAdd to basket
Also known as: NAC delta

The sequence of this isoform differs from the canonical sequence as follows:
     958-987: Missing.

Show »
Length:1,443
Mass (Da):162,239
Checksum:iC30E9BE9EC82FE96
GO
Isoform 5 (identifier: Q9C000-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1044-1044: A → AGKSH
     1354-1371: DLMPATTLIPPARIAVPS → RNTSQPWNLRCNRDARRY
     1372-1473: Missing.

Show »
Length:1,375
Mass (Da):154,881
Checksum:iBC6844DC6B4FDB0A
GO
Isoform 6 (identifier: Q9C000-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-734: Missing.

Show »
Length:739
Mass (Da):83,100
Checksum:i41E23E686642323B
GO
Isoform 7 (identifier: Q9C000-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-966: Missing.
     1044-1044: A → AGKSH
     1354-1371: DLMPATTLIPPARIAVPS → RNTSQPWNLRCNRDARRY
     1372-1473: Missing.

Show »
Length:409
Mass (Da):46,068
Checksum:i07CC5FACF3EB7236
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L0S2I3L0S2_HUMAN
NACHT, LRR and PYD domains-containi...
NLRP1
35Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA76770 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB15469 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti287P → S in AAH51787 (PubMed:15489334).Curated1
Sequence conflicti782T → S in AAG15254 (PubMed:11270363).Curated1
Sequence conflicti995T → I in AAG15254 (PubMed:11270363).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07879854A → T in MSPC; increased NLRP1-inflammasome complex assembly; altered protein folding. 1 PublicationCorresponds to variant dbSNP:rs1057519492EnsemblClinVar.1
Natural variantiVAR_07879966A → V in MSPC; increased NLRP1-inflammasome complex assembly; altered protein folding. 1 PublicationCorresponds to variant dbSNP:rs1057519493EnsemblClinVar.1
Natural variantiVAR_06990177M → T in MSPC; destabilization of the N-terminal fragment. 2 PublicationsCorresponds to variant dbSNP:rs397514692EnsemblClinVar.1
Natural variantiVAR_033239155L → H in VAMAS1; risk factor. 2 PublicationsCorresponds to variant dbSNP:rs12150220EnsemblClinVar.1
Natural variantiVAR_024238246T → S1 PublicationCorresponds to variant dbSNP:rs11651595Ensembl.1
Natural variantiVAR_021886404R → Q. Corresponds to variant dbSNP:rs3744718EnsemblClinVar.1
Natural variantiVAR_078800726R → W in AIADK; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776245016EnsemblClinVar.1
Natural variantiVAR_083844755T → N in JRRP; gain-of-function variant resulting in spontaneous inflammasome activation; increased NLRP1-inflammasome complex assembly. 1 Publication1
Natural variantiVAR_078801787 – 843Missing in MSPC; increased NLRP1-inflammasome complex assembly. 1 PublicationAdd BLAST57
Natural variantiVAR_033240878T → M1 PublicationCorresponds to variant dbSNP:rs11657747Ensembl.1
Natural variantiVAR_0242391059V → M. Corresponds to variant dbSNP:rs2301582Ensembl.1
Natural variantiVAR_0332411069H → Y. Corresponds to variant dbSNP:rs9907167EnsemblClinVar.1
Natural variantiVAR_0332421119M → V No effect on autocatalytic processing, nor on IL1B release. 2 PublicationsCorresponds to variant dbSNP:rs35596958Ensembl.1
Natural variantiVAR_0332431184M → V Increased autocatalytic processing and IL1B release. 3 PublicationsCorresponds to variant dbSNP:rs11651270EnsemblClinVar.1
Natural variantiVAR_0788021214P → R in AIADK; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057524876EnsemblClinVar.1
Natural variantiVAR_0332441241V → L1 PublicationCorresponds to variant dbSNP:rs11653832Ensembl.1
Natural variantiVAR_0204371366R → C1 PublicationCorresponds to variant dbSNP:rs2137722Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0538011 – 966Missing in isoform 7. 1 PublicationAdd BLAST966
Alternative sequenceiVSP_0538021 – 734Missing in isoform 6. 1 PublicationAdd BLAST734
Alternative sequenceiVSP_004326958 – 987Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_0538031044A → AGKSH in isoform 5 and isoform 7. 2 Publications1
Alternative sequenceiVSP_0043271262 – 1305Missing in isoform 2 and isoform 3. 5 PublicationsAdd BLAST44
Alternative sequenceiVSP_0538041354 – 1371DLMPA…IAVPS → RNTSQPWNLRCNRDARRY in isoform 5 and isoform 7. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_0538051372 – 1473Missing in isoform 5 and isoform 7. 2 PublicationsAdd BLAST102

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF298548 mRNA Translation: AAG15254.1
AF310105 mRNA Translation: AAG30288.1
AF229059 mRNA Translation: AAK00748.1
AF229060 mRNA Translation: AAK00749.1
AF229061 mRNA Translation: AAK00750.1
AF229062 mRNA Translation: AAK00751.1
AB023143 mRNA Translation: BAA76770.2 Different initiation.
AK026393 mRNA Translation: BAB15469.1 Frameshift.
AK026398 mRNA Translation: BAB15470.1
AC055839 Genomic DNA No translation available.
BC051787 mRNA Translation: AAH51787.1
AL117470 mRNA Translation: CAB55945.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32537.1 [Q9C000-5]
CCDS42244.1 [Q9C000-4]
CCDS42245.1 [Q9C000-2]
CCDS42246.1 [Q9C000-1]
CCDS58508.1 [Q9C000-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
T17255

NCBI Reference Sequences

More...
RefSeqi
NP_001028225.1, NM_001033053.2 [Q9C000-5]
NP_055737.1, NM_014922.4 [Q9C000-2]
NP_127497.1, NM_033004.3 [Q9C000-1]
NP_127499.1, NM_033006.3 [Q9C000-4]
NP_127500.1, NM_033007.3 [Q9C000-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262467; ENSP00000262467; ENSG00000091592 [Q9C000-5]
ENST00000269280; ENSP00000269280; ENSG00000091592 [Q9C000-2]
ENST00000345221; ENSP00000324366; ENSG00000091592 [Q9C000-2]
ENST00000354411; ENSP00000346390; ENSG00000091592 [Q9C000-4]
ENST00000544378; ENSP00000442029; ENSG00000091592 [Q9C000-5]
ENST00000571451; ENSP00000459661; ENSG00000091592 [Q9C000-2]
ENST00000572272; ENSP00000460475; ENSG00000091592 [Q9C000-1]
ENST00000577119; ENSP00000460216; ENSG00000091592 [Q9C000-3]
ENST00000613500; ENSP00000483359; ENSG00000091592 [Q9C000-5]
ENST00000617618; ENSP00000478516; ENSG00000091592 [Q9C000-1]
ENST00000619223; ENSP00000484692; ENSG00000091592 [Q9C000-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
22861

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:22861

UCSC genome browser

More...
UCSCi
uc002gcg.2, human [Q9C000-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF298548 mRNA Translation: AAG15254.1
AF310105 mRNA Translation: AAG30288.1
AF229059 mRNA Translation: AAK00748.1
AF229060 mRNA Translation: AAK00749.1
AF229061 mRNA Translation: AAK00750.1
AF229062 mRNA Translation: AAK00751.1
AB023143 mRNA Translation: BAA76770.2 Different initiation.
AK026393 mRNA Translation: BAB15469.1 Frameshift.
AK026398 mRNA Translation: BAB15470.1
AC055839 Genomic DNA No translation available.
BC051787 mRNA Translation: AAH51787.1
AL117470 mRNA Translation: CAB55945.1
CCDSiCCDS32537.1 [Q9C000-5]
CCDS42244.1 [Q9C000-4]
CCDS42245.1 [Q9C000-2]
CCDS42246.1 [Q9C000-1]
CCDS58508.1 [Q9C000-3]
PIRiT17255
RefSeqiNP_001028225.1, NM_001033053.2 [Q9C000-5]
NP_055737.1, NM_014922.4 [Q9C000-2]
NP_127497.1, NM_033004.3 [Q9C000-1]
NP_127499.1, NM_033006.3 [Q9C000-4]
NP_127500.1, NM_033007.3 [Q9C000-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PN5NMR-A1-93[»]
3KATX-ray3.10A1371-1467[»]
4IFPX-ray1.99A/B/C1379-1462[»]
4IM6X-ray1.65A791-990[»]
5Y3SX-ray2.45A/B/C/D790-990[»]
6K7Velectron microscopy3.70A/B/C/D/E/F/G/H/I/J/K/L1379-1466[»]
6XKKelectron microscopy3.60A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/a/b/c/d/e/f/g/h1379-1473[»]
BMRBiQ9C000
SMRiQ9C000
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116529, 18 interactors
ComplexPortaliCPX-4082, NLRP1 inflammasome
CORUMiQ9C000
DIPiDIP-38407N
IntActiQ9C000, 13 interactors
MINTiQ9C000
STRINGi9606.ENSP00000478516

Chemistry databases

BindingDBiQ9C000
ChEMBLiCHEMBL1741214

Protein family/group databases

MEROPSiS79.002

PTM databases

iPTMnetiQ9C000
PhosphoSitePlusiQ9C000

Genetic variation databases

BioMutaiNLRP1
DMDMi17380146

Proteomic databases

EPDiQ9C000
MassIVEiQ9C000
PaxDbiQ9C000
PeptideAtlasiQ9C000
PRIDEiQ9C000
ProteomicsDBi19812
79931 [Q9C000-1]
79932 [Q9C000-2]
79933 [Q9C000-3]
79934 [Q9C000-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
3365, 245 antibodies

The DNASU plasmid repository

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DNASUi
22861

Genome annotation databases

EnsembliENST00000262467; ENSP00000262467; ENSG00000091592 [Q9C000-5]
ENST00000269280; ENSP00000269280; ENSG00000091592 [Q9C000-2]
ENST00000345221; ENSP00000324366; ENSG00000091592 [Q9C000-2]
ENST00000354411; ENSP00000346390; ENSG00000091592 [Q9C000-4]
ENST00000544378; ENSP00000442029; ENSG00000091592 [Q9C000-5]
ENST00000571451; ENSP00000459661; ENSG00000091592 [Q9C000-2]
ENST00000572272; ENSP00000460475; ENSG00000091592 [Q9C000-1]
ENST00000577119; ENSP00000460216; ENSG00000091592 [Q9C000-3]
ENST00000613500; ENSP00000483359; ENSG00000091592 [Q9C000-5]
ENST00000617618; ENSP00000478516; ENSG00000091592 [Q9C000-1]
ENST00000619223; ENSP00000484692; ENSG00000091592 [Q9C000-4]
GeneIDi22861
KEGGihsa:22861
UCSCiuc002gcg.2, human [Q9C000-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
22861
DisGeNETi22861

GeneCards: human genes, protein and diseases

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GeneCardsi
NLRP1
HGNCiHGNC:14374, NLRP1
HPAiENSG00000091592, Low tissue specificity
MalaCardsiNLRP1
MIMi606579, phenotype
606636, gene
615225, phenotype
617388, phenotype
618803, phenotype
neXtProtiNX_Q9C000
OpenTargetsiENSG00000091592
Orphaneti352662, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
3435, NON RARE IN EUROPE: Vitiligo
PharmGKBiPA162397797
VEuPathDBiHostDB:ENSG00000091592.15

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502S4A4, Eukaryota
GeneTreeiENSGT00940000162176
HOGENOMiCLU_002274_2_4_1
InParanoidiQ9C000
OMAiYFTEESQ
OrthoDBi114368at2759
PhylomeDBiQ9C000
TreeFamiTF340267

Enzyme and pathway databases

PathwayCommonsiQ9C000
ReactomeiR-HSA-844455, The NLRP1 inflammasome
SIGNORiQ9C000

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
22861, 4 hits in 996 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
NLRP1, human
EvolutionaryTraceiQ9C000

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NLRP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
22861
PharosiQ9C000, Tbio

Protein Ontology

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PROi
PR:Q9C000
RNActiQ9C000, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000091592, Expressed in pituitary gland and 219 other tissues
ExpressionAtlasiQ9C000, baseline and differential
GenevisibleiQ9C000, HS

Family and domain databases

CDDicd08330, CARD_ASC_NALP1, 1 hit
DisProtiDP00554
Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001315, CARD
IPR033516, CARD8/ASC/NALP1_CARD
IPR004020, DAPIN
IPR011029, DEATH-like_dom_sf
IPR025307, FIIND_dom
IPR001611, Leu-rich_rpt
IPR032675, LRR_dom_sf
IPR007111, NACHT_NTPase
IPR041267, NLRP_HD2
IPR041075, NOD2_WH
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF00619, CARD, 1 hit
PF13553, FIIND, 1 hit
PF13516, LRR_6, 3 hits
PF05729, NACHT, 1 hit
PF17776, NLRC4_HD2, 1 hit
PF17779, NOD2_WH, 1 hit
PF02758, PYRIN, 1 hit
SMARTiView protein in SMART
SM01289, PYRIN, 1 hit
SUPFAMiSSF47986, SSF47986, 2 hits
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50209, CARD, 1 hit
PS50824, DAPIN, 1 hit
PS51830, FIIND, 1 hit
PS51450, LRR, 3 hits
PS50837, NACHT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNLRP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9C000
Secondary accession number(s): E9PE50
, I6L9D9, Q9BZZ8, Q9BZZ9, Q9H5Z7, Q9H5Z8, Q9HAV8, Q9UFT4, Q9Y2E0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: June 1, 2001
Last modified: April 7, 2021
This is version 217 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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