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Aliases for NLRP1 Gene

Aliases for NLRP1 Gene

  • NLR Family Pyrin Domain Containing 1 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 1 2 3
  • NACHT, Leucine Rich Repeat And PYD (Pyrin Domain) Containing 1 2 3
  • Death Effector Filament-Forming Ced-4-Like Apoptosis Protein 3 4
  • Nucleotide-Binding Domain And Caspase Recruitment Domain 3 4
  • Caspase Recruitment Domain-Containing Protein 7 3 4
  • DEFCAP 3 4
  • NALP1 3 4
  • CARD7 3 4
  • NAC 3 4
  • Systemic Lupus Erythematosus, Vitiligo-Related 1 2
  • NACHT, LRR And PYD Domains-Containing Protein 1 3
  • NACHT, Leucine Rich Repeat And PYD Containing 1 3
  • NACHT, LRR And PYD Containing Protein 1 3
  • Caspase Recruitment Domain Protein 7 3
  • DEFCAP-L/S 3
  • KIAA0926 4
  • CLR17.1 3
  • PP1044 3
  • VAMAS1 3
  • AIADK 3
  • CIDED 3
  • SLEV1 3
  • MSPC 3

External Ids for NLRP1 Gene

Previous HGNC Symbols for NLRP1 Gene

  • NALP1
  • SLEV1

Previous GeneCards Identifiers for NLRP1 Gene

  • GC17M005351
  • GC17M005354
  • GC17M005357
  • GC17M005294
  • GC17M005407

Summaries for NLRP1 Gene

Entrez Gene Summary for NLRP1 Gene

  • 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]

GeneCards Summary for NLRP1 Gene

NLRP1 (NLR Family Pyrin Domain Containing 1) is a Protein Coding gene. Diseases associated with NLRP1 include Palmoplantar Carcinoma, Multiple Self-Healing and Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1. Among its related pathways are Toll-like receptor signaling pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include enzyme binding and cysteine-type endopeptidase activator activity involved in apoptotic process. An important paralog of this gene is NLRP12.

UniProtKB/Swiss-Prot for NLRP1 Gene

  • As the sensor component of the NLRP1 inflammasome, plays a crucial role 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. 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). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). It is unclear whether isoform 2 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). Binds ATP (PubMed:11113115, PubMed:15212762).

Gene Wiki entry for NLRP1 Gene

Additional gene information for NLRP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP1 Gene

Genomics for NLRP1 Gene

GeneHancer (GH) Regulatory Elements for NLRP1 Gene

Promoters and enhancers for NLRP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I005582 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 602.5 +35.0 34962 4.4 HDGF BATF ZNF143 RCOR1 ATF7 IKZF2 RUNX3 SMARCC1 CEBPB ELF1 NLRP1 RPAIN GC17M005386 LOC105371507
GH17I005525 Enhancer 1.3 FANTOM5 Ensembl ENCODE 15.3 +92.4 92377 3.2 PKNOX1 ATF1 TAF9B INSM2 KLF17 FEZF1 GLI4 RFX5 ZNF335 ZNF366 NLRP1 RPAIN DERL2 MIS12 DHX33 LOC105371507 RNU7-31P GC17M005386
GH17I005484 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 6.5 +133.0 132970 3.1 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DERL2 MIS12 RPAIN NUP88 LOC102724009 NLRP1 ENSG00000263272 DHX33 GC17M005386
GH17I005515 Enhancer 1.1 Ensembl ENCODE 10.4 +102.9 102868 3.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 GLIS2 ATF7 FOS DERL2 MIS12 RPAIN NLRP1 RNU7-31P LOC105371507 GC17M005386
GH17I005220 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 6 +390.9 390949 15.8 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B YBX1 IRF4 ZNF207 ZNF143 SCIMP RABEP1 ENSG00000263164 LOC101928000 USP6 CAMTA2 NUP88 ENSG00000262165 ZFP3 NLRP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NLRP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NLRP1 gene promoter:

Genomic Locations for NLRP1 Gene

Genomic Locations for NLRP1 Gene
chr17:5,499,427-5,619,424
(GRCh38/hg38)
Size:
119,998 bases
Orientation:
Minus strand
chr17:5,402,747-5,522,744
(GRCh37/hg19)

Genomic View for NLRP1 Gene

Genes around NLRP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP1 Gene

Proteins for NLRP1 Gene

  • Protein details for NLRP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C000-NLRP1_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 1
    Protein Accession:
    Q9C000
    Secondary Accessions:
    • E9PE50
    • I6L9D9
    • Q9BZZ8
    • Q9BZZ9
    • Q9H5Z7
    • Q9H5Z8
    • Q9HAV8
    • Q9UFT4
    • Q9Y2E0

    Protein attributes for NLRP1 Gene

    Size:
    1473 amino acids
    Molecular mass:
    165866 Da
    Quaternary structure:
    • 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).
    • (Microbial infection) Interacts with vaccinia virus protein F1 (PubMed:16439990).
    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.
    SequenceCaution:
    • Sequence=BAA76770.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15469.1; Type=Frameshift; Positions=1241; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NLRP1 Gene

    Alternative splice isoforms for NLRP1 Gene

neXtProt entry for NLRP1 Gene

Post-translational modifications for NLRP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NLRP1 Gene

Domains & Families for NLRP1 Gene

Gene Families for NLRP1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NLRP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C000

UniProtKB/Swiss-Prot:

NLRP1_HUMAN :
  • The CARD domain, rather than the pyrin domain, is involved in the interaction with PYCARD, CASP1 and CASP5.
  • Belongs to the NLRP family.
Domain:
  • The CARD domain, rather than the pyrin domain, is involved in the interaction with PYCARD, CASP1 and CASP5.
  • 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.
  • 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).
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP1: view

Function for NLRP1 Gene

Molecular function for NLRP1 Gene

UniProtKB/Swiss-Prot Function:
As the sensor component of the NLRP1 inflammasome, plays a crucial role 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. 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). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). It is unclear whether isoform 2 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). Binds ATP (PubMed:11113115, PubMed:15212762).
UniProtKB/Swiss-Prot Induction:
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).

Phenotypes From GWAS Catalog for NLRP1 Gene

Gene Ontology (GO) - Molecular Function for NLRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11472070
GO:0005524 ATP binding IDA 15212762
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process NAS 11076957
GO:0019899 enzyme binding IPI 11076957
GO:0019904 protein domain specific binding IPI 16575408
genes like me logo Genes that share ontologies with NLRP1: view
genes like me logo Genes that share phenotypes with NLRP1: view

Human Phenotype Ontology for NLRP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NLRP1 Gene

MGI Knock Outs for NLRP1:

miRNA for NLRP1 Gene

miRTarBase miRNAs that target NLRP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NLRP1 Gene

Localization for NLRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP1 Gene

Cytoplasm, cytosol. Cytoplasm. Inflammasome. Nucleus. Note=Nucleocytoplasmic distribution in lymphoid organs (probably in T-cells) and in neurons. In epithelial cells, predominantly cytoplasmic. {ECO:0000269 PubMed:17164409}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NLRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11076957
GO:0005634 nucleus IEA,IDA 17164409
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NLRP1: view

Pathways & Interactions for NLRP1 Gene

genes like me logo Genes that share pathways with NLRP1: view

Gene Ontology (GO) - Biological Process for NLRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006915 apoptotic process NAS 11076957
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA,NAS 11076957
GO:0006954 inflammatory response IEA --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with NLRP1: view

No data available for SIGNOR curated interactions for NLRP1 Gene

Drugs & Compounds for NLRP1 Gene

(1) Drugs for NLRP1 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
muramyl dipeptide Pharma Agonist 0
genes like me logo Genes that share compounds with NLRP1: view

Transcripts for NLRP1 Gene

Unigene Clusters for NLRP1 Gene

NLR family, pyrin domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP1 Gene

No ASD Table

Relevant External Links for NLRP1 Gene

GeneLoc Exon Structure for
NLRP1
ECgene alternative splicing isoforms for
NLRP1

Expression for NLRP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NLRP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP1 Gene

This gene is overexpressed in Pituitary (x4.8) and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for NLRP1 Gene

This gene is overexpressed in Liver (47.2) and Heart (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NLRP1 Gene



Protein tissue co-expression partners for NLRP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NLRP1 Gene:

NLRP1

SOURCE GeneReport for Unigene cluster for NLRP1 Gene:

Hs.652273

mRNA Expression by UniProt/SwissProt for NLRP1 Gene:

Q9C000-NLRP1_HUMAN
Tissue specificity: 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).

Evidence on tissue expression from TISSUES for NLRP1 Gene

  • Nervous system(4.5)
  • Blood(4.4)
  • Skin(2.6)
  • Lymph node(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with NLRP1: view

Orthologs for NLRP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP1 33 34
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia NLRP1 33 34
  • 75.89 (n)
dog
(Canis familiaris)
Mammalia NLRP1 33 34
  • 73.28 (n)
mouse
(Mus musculus)
Mammalia Nlrp1b 33 16 34
  • 69.76 (n)
Nlrp1a 34
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nlrp1b 33
  • 67.51 (n)
oppossum
(Monodelphis domestica)
Mammalia NLRP1 34
  • 41 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii NLRP1 34
  • 12 (a)
OneToMany
Species where no ortholog for NLRP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NLRP1 Gene

ENSEMBL:
Gene Tree for NLRP1 (if available)
TreeFam:
Gene Tree for NLRP1 (if available)

Paralogs for NLRP1 Gene

(9) SIMAP similar genes for NLRP1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with NLRP1: view

Variants for NLRP1 Gene

Sequence variations from dbSNP and Humsavar for NLRP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057519492 carcinoma, multiple self-healing (MSPC) [MIM:615225], pathogenic, Palmoplantar carcinoma, multiple self-healing 5,583,798(-) C/T coding_sequence_variant, missense_variant
rs1057519493 carcinoma, multiple self-healing (MSPC) [MIM:615225], pathogenic, likely-pathogenic, Palmoplantar carcinoma, multiple self-healing, not provided 5,583,761(-) G/A coding_sequence_variant, missense_variant
rs1057524876 pathogenic, Autoinflammation with arthritis and dyskeratosis 5,521,666(-) G/C coding_sequence_variant, missense_variant
rs12150220 risk-factor, Vitiligo-associated multiple autoimmune disease susceptibility 1, Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579] 5,582,047(-) A/T coding_sequence_variant, missense_variant
rs193920788 uncertain-significance, Malignant tumor of prostate 5,539,467(-) G/A coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for NLRP1 Gene

Variant ID Type Subtype PubMed ID
nsv574278 CNV gain 21841781
nsv473405 CNV novel sequence insertion 20440878
nsv1957 CNV insertion 18451855
nsv1956 CNV deletion 18451855
nsv1061446 CNV loss 25217958
esv993076 CNV deletion 20482838
esv3554050 CNV deletion 23714750
esv2715570 CNV deletion 23290073
esv1271433 CNV deletion 17803354
dgv884e212 CNV loss 25503493
dgv1409n106 CNV deletion 24896259

Variation tolerance for NLRP1 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.37; 88.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP1 Gene

Human Gene Mutation Database (HGMD)
NLRP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP1 Gene

Disorders for NLRP1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for NLRP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NLRP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NLRP1_HUMAN
  • Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388]: A 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. {ECO:0000269 PubMed:27965258}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225]: An 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. {ECO:0000269 PubMed:23349227, ECO:0000269 PubMed:27662089}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269 PubMed:17377159}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for NLRP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NLRP1: view

No data available for Genatlas for NLRP1 Gene

Publications for NLRP1 Gene

  1. NALP1 in vitiligo-associated multiple autoimmune disease. (PMID: 17377159) Jin Y … Spritz RA (The New England journal of medicine 2007) 2 3 4 58
  2. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PMID: 17620097) Macaluso F … Hoffjan S (Experimental dermatology 2007) 3 22 44 58
  3. Bcl-2 and Bcl-XL regulate proinflammatory caspase-1 activation by interaction with NALP1. (PMID: 17418785) Bruey JM … Reed JC (Cell 2007) 3 4 22 58
  4. Inflammasome components NALP 1 and 3 show distinct but separate expression profiles in human tissues suggesting a site-specific role in the inflammatory response. (PMID: 17164409) Kummer JA … Tschopp J (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2007) 3 4 22 58
  5. Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. (PMID: 15212762) Liu F … Ozenberger BA (Cellular signalling 2004) 3 4 22 58

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