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Aliases for NLRP1 Gene

Aliases for NLRP1 Gene

  • NLR Family, Pyrin Domain Containing 1 2 3
  • DEFCAP 3 4 6
  • NALP1 3 4 6
  • CARD7 3 4 6
  • 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
  • KIAA0926 4 6
  • VAMAS1 3 6
  • CIDED 3 6
  • SLEV1 3 6
  • NAC 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 1 3
  • Leucine Rich Repeat And Pyrin Domain Containing 1 2
  • 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
  • Nucleotide-Binding Oligomerization Domain 2
  • NACHT, LRR And PYD Containing Protein 1 3
  • Caspase Recruitment Domain Protein 7 3
  • DEFCAP-L/S 3
  • CLR17.1 3
  • PP1044 3

External Ids for NLRP1 Gene

Previous Symbols for NLRP1 Gene

  • NALP1
  • SLEV1

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 corneal intraepithelial dyskeratosis and ectodermal dysplasia and corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Apoptosis and Autophagy. 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 NLRX1.

UniProtKB/Swiss-Prot for NLRP1 Gene

  • Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP.

Gene Wiki entry for NLRP1 Gene

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

Genomics for NLRP1 Gene

Genomic Location for NLRP1 Gene

Start:
5,499,427 bp from pter
End:
5,619,424 bp from pter
Size:
119,998 bases
Orientation:
Minus strand

Genomic View for NLRP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NLRP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP1 Gene

Regulatory Elements for NLRP1 Gene

Proteins for NLRP1 Gene

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

    Protein Symbol:
    Q9C000-NALP1_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:
    • Interacts strongly with caspase-2, weakly with caspase-9 and with APAF1 in a cytochrome c-inducible way, leading to the formation of an apoptosome. This interaction may be ATP-dependent. Part of the NALP1 inflammasome complex which is involved in activation of caspase-1 and caspase-5, leading to processing of IL1B and IL18. The complex is activated by bacterial muramyl dipeptide which triggers ATP-binding and oligomerization of NALP1. Interacts with EIF2AK2/PKR and MEFV.
    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

Proteomics data for NLRP1 Gene at MOPED

Post-translational modifications for NLRP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NLRP1 Gene

Domains for NLRP1 Gene

Gene Families for NLRP1 Gene

HGNC:
  • NLR :Nucleotide-binding domain and leucine rich repeat containing
IUPHAR :

UniProtKB/Swiss-Prot:

NALP1_HUMAN
Domain:
  • Contains 1 CARD domain.:
    • Q9C000
  • Contains 1 DAPIN domain.:
    • Q9C000
  • Contains 1 NACHT domain.:
    • Q9C000
Family:
  • Belongs to the NLRP family.:
    • Q9C000
Similarity:
  • Contains 6 LRR (leucine-rich) repeats.:
    • Q9C000
genes like me logo Genes that share domains with NLRP1: view

Function for NLRP1 Gene

Molecular function for NLRP1 Gene

UniProtKB/Swiss-Prot Function: Able to form cytoplasmic structures termed death effector filaments. Enhances APAF1 and cytochrome c-dependent activation of pro-caspase-9 and consecutive apoptosis. Stimulates apoptosis through activation of caspase-3. Involved in activation of caspase-1 and caspase-5 as part of the NALP1 inflammasome complex which leads to processing and release of IL1B and IL18. Binds ATP.

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

miRNA for NLRP1 Gene

miRTarBase miRNAs that target NLRP1

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

Localization for NLRP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NLRP1 Gene COMPARTMENTS Subcellular localization image for NLRP1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NLRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IC 11076957
GO:0005634 nucleus IDA 17164409
GO:0005829 cytosol TAS --
GO:0072558 NLRP1 inflammasome complex TAS 20303873
genes like me logo Genes that share ontologies with NLRP1: view

Pathways for NLRP1 Gene

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

Pathways by source for NLRP1 Gene

1 R&D Systems pathway for NLRP1 Gene
2 Cell Signaling Technology pathways for NLRP1 Gene
2 BioSystems pathways for NLRP1 Gene

Gene Ontology (GO) - Biological Process for NLRP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11076957
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS 11076957
GO:0032495 response to muramyl dipeptide ISS --
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS --
GO:0042742 defense response to bacterium ISS --
genes like me logo Genes that share ontologies with NLRP1: view

Compounds for NLRP1 Gene

(1) IUPHAR Ligand for NLRP1 Gene

Ligand Type Action Affinity Pubmed IDs
muramyl dipeptide Agonist Agonist
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:

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 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 (4.8) and Whole Blood (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NLRP1 Gene

SOURCE GeneReport for Unigene cluster for NLRP1 Gene Hs.652273

mRNA Expression by UniProt/SwissProt for NLRP1 Gene

Q9C000-NALP1_HUMAN
Tissue specificity: Widely expressed. Isoform 1 and isoform 2 are expressed in peripheral blood leukocytes and chronic myelogenous leukemia cell line K-562, followed by thymus, spleen and heart. Also detected in brain, lung, placenta, small intestine, colon, kidney, liver, muscle, testis and epithelial cells. Absent from hematopoietic progenitor cells but expressed upon differentiation of cells into granulocytes and, to a lesser extent, monocytes. In peripheral blood cells, highest levels are found in T-lymphocytes, granulocytes and monocytes. Expression is significantly increased in bone marrow blast cells of some acute leukemia patients but not in solid tumors. Expressed in adult cornea as well as adult and 24-week fetal tissues, including choroid, sclera, cornea, optic nerve, and adult retina and fetal retina/retinal pigment epithelium. In addition, expressed in corneal epithelia obtained during photorefractive keratectomy.
genes like me logo Genes that share expressions 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 36
  • 99.12 (n)
  • 98.47 (a)
NLRP1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP1 36
  • 75.89 (n)
  • 62.9 (a)
NLRP1 37
  • 59 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP1 36
  • 73.28 (n)
  • 62.77 (a)
NLRP1 37
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp1a 16
Nlrp1a 37
  • 55 (a)
OneToMany
Nlrp1b 36
  • 69.76 (n)
  • 56.12 (a)
Nlrp1b 37
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NLRP1 37
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlrp1b 36
  • 67.51 (n)
  • 55.85 (a)
zebrafish
(Danio rerio)
Actinopterygii NLRP1 37
  • 12 (a)
OneToMany
Species with no ortholog for NLRP1:
  • 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

Paralogs for NLRP1 Gene

Selected 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 Sequence Context AA Info Type MAF
rs871928 -- 5,583,480(+) GTGGG(A/G)CTCTG intron-variant
rs884367 -- 5,583,844(-) TCTTC(C/G)GGTGA synonymous-codon, reference
rs907877 -- 5,553,872(+) TTTTT(A/T)AAATC intron-variant
rs925595 -- 5,584,745(+) ATCTA(C/G)AGCCT upstream-variant-2KB
rs925596 -- 5,584,779(+) TCTCC(A/G)AGCAG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1956 CNV Loss 18451855
nsv907625 CNV Loss 21882294
nsv1957 CNV Insertion 18451855
esv2715570 CNV Deletion 23290073
esv993076 CNV Deletion 20482838
esv1271433 CNV Deletion 17803354

Relevant External Links for NLRP1 Gene

HapMap Linkage Disequilibrium report
NLRP1
Human Gene Mutation Database (HGMD)
NLRP1

Disorders for NLRP1 Gene

(2) OMIM Diseases for NLRP1 Gene (606636)

UniProtKB/Swiss-Prot

NALP1_HUMAN
  • Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. {ECO:0000269 PubMed:17377159}. Note=Disease susceptibility is associated with variations 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225]: A disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, and dystrophic nails. {ECO:0000269 PubMed:23349227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NLRP1 Gene

Relevant External Links for NLRP1

Genetic Association Database (GAD)
NLRP1
Human Genome Epidemiology (HuGE) Navigator
NLRP1
genes like me logo Genes that share disorders with NLRP1: view

Publications for NLRP1 Gene

  1. Expression of NALP1 in cerebellar granule neurons stimulates apoptosis. (PMID: 15212762) Liu F. … Ozenberger B.A. (Cell. Signal. 2004) 3 4 23
  2. 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 J.A. … Tschopp J. (J. Histochem. Cytochem. 2007) 3 4 23
  3. Molecular cloning and characterization of DEFCAP-L and -S, two isoforms of a novel member of the mammalian Ced-4 family of apoptosis proteins. (PMID: 11076957) Hlaing T. … Ward P.A. (J. Biol. Chem. 2001) 3 4 23
  4. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J. … Burns K. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 23
  5. Polymorphisms in NACHT-LRR (NLR) genes in atopic dermatitis. (PMID: 17620097) Macaluso F. … Hoffjan S. (Exp. Dermatol. 2007) 3 23 49

Products for NLRP1 Gene

Sources for NLRP1 Gene

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