The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced m... See more...

Aliases for NLRP9 Gene

Aliases for NLRP9 Gene

  • NLR Family Pyrin Domain Containing 9 2 3 5
  • PAN12 2 3 4
  • NOD6 2 3 4
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 9 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 6 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 9 2 3
  • NACHT, LRR And PYD Domains-Containing Protein 9 3 4
  • PYRIN And NACHT-Containing Protein 12 3 4
  • CLR19.1 2 3
  • NALP9 3 4
  • NACHT, LRR And PYD Containing Protein 9 3
  • NLRP9 5

External Ids for NLRP9 Gene

Previous HGNC Symbols for NLRP9 Gene

  • NALP9

Previous GeneCards Identifiers for NLRP9 Gene

  • GC19M060912
  • GC19M056219
  • GC19M052531

Summaries for NLRP9 Gene

Entrez Gene Summary for NLRP9 Gene

  • The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

GeneCards Summary for NLRP9 Gene

NLRP9 (NLR Family Pyrin Domain Containing 9) is a Protein Coding gene. Diseases associated with NLRP9 include Gestational Trophoblastic Neoplasm. An important paralog of this gene is NLRP14.

UniProtKB/Swiss-Prot Summary for NLRP9 Gene

  • As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments.

Gene Wiki entry for NLRP9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP9 Gene

Genomics for NLRP9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NLRP9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP9

Top Transcription factor binding sites by QIAGEN in the NLRP9 gene promoter:
  • AREB6
  • C/EBPalpha
  • C/EBPbeta
  • Cart-1
  • CBF(2)
  • NF-Y
  • Nkx2-5
  • Nkx6-1
  • POU3F2

Genomic Locations for NLRP9 Gene

Latest Assembly
chr19:55,708,438-55,738,402
(GRCh38/hg38)
Size:
29,965 bases
Orientation:
Minus strand

Previous Assembly
chr19:56,219,804-56,249,768
(GRCh37/hg19 by Entrez Gene)
Size:
29,965 bases
Orientation:
Minus strand

chr19:56,219,798-56,249,768
(GRCh37/hg19 by Ensembl)
Size:
29,971 bases
Orientation:
Minus strand

Genomic View for NLRP9 Gene

Genes around NLRP9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP9 Gene

Proteins for NLRP9 Gene

  • Protein details for NLRP9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTR0-NLRP9_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 9
    Protein Accession:
    Q7RTR0
    Secondary Accessions:
    • B2RN12
    • Q86W27

    Protein attributes for NLRP9 Gene

    Size:
    991 amino acids
    Molecular mass:
    113312 Da
    Quaternary structure:
    • Sensor component of NLRP9 inflammasomes. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens, such as rotavirus, and play critical roles in innate immunity and inflammation. The core of NLRP9 inflammasomes consists of a signal sensor component (NLRP9), an adapter (ASC/PYCARD), which recruits an effector proinflammatory caspase (CASP1). Within the complex, NLRP9 and PYCARD interact via their respective DAPIN/pyrin domains. This interaction initiates speck formation (nucleation) which greatly enhances further addition of soluble PYCARD molecules to the speck in a prion-like polymerization process. Clustered PYCARD nucleates the formation of CASP1 filaments through the interaction of their respective CARD domains, acting as a platform for CASP1 polymerization. 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 (PubMed:28636595). Interacts with DHX9 upon rotavirus infection; this interaction may trigger inflammasome activation and inflammatory response (PubMed:28636595).

    Three dimensional structures from OCA and Proteopedia for NLRP9 Gene

    Alternative splice isoforms for NLRP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP9 Gene

Post-translational modifications for NLRP9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP9 Gene

No data available for DME Specific Peptides for NLRP9 Gene

Domains & Families for NLRP9 Gene

Gene Families for NLRP9 Gene

Protein Domains for NLRP9 Gene

InterPro:
Blocks:
  • Leucine-rich repeat signature
  • Pyrin domain

Suggested Antigen Peptide Sequences for NLRP9 Gene

GenScript: Design optimal peptide antigens:
  • PYRIN and NACHT-containing protein 12 (NALP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7RTR0

UniProtKB/Swiss-Prot:

NLRP9_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP9: view

Function for NLRP9 Gene

Molecular function for NLRP9 Gene

UniProtKB/Swiss-Prot Function:
As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and CASP1. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and release in the extracellular milieu. The active cytokines stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. NLRP9 inflammasome activation may be initiated by DHX9 interaction with viral double-stranded RNA (dsRNA), preferentially to short dsRNA segments.
UniProtKB/Swiss-Prot Induction:
In brain pericytes, up-regulated at the mRNA level in response to oxidative stress.

Phenotypes From GWAS Catalog for NLRP9 Gene

Gene Ontology (GO) - Molecular Function for NLRP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 28636595
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP9: view
genes like me logo Genes that share phenotypes with NLRP9: view

Animal Models for NLRP9 Gene

MGI Knock Outs for NLRP9:
  • Nlrp9b Nlrp9b<tm1b(KOMP)Wtsi>

miRNA for NLRP9 Gene

miRTarBase miRNAs that target NLRP9

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NLRP9 Gene

Localization for NLRP9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP9 Gene

Cytoplasm. Inflammasome.

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 NLRP9 gene
Compartment Confidence
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
lysosome 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for NLRP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0061702 inflammasome complex IEA,IDA 28636595
genes like me logo Genes that share ontologies with NLRP9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NLRP9 Gene

Pathways & Interactions for NLRP9 Gene

PathCards logo

SuperPathways for NLRP9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NLRP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006954 inflammatory response IEA --
GO:0032741 positive regulation of interleukin-18 production ISS --
GO:0045087 innate immune response ISS --
GO:0051607 defense response to virus ISS --
genes like me logo Genes that share ontologies with NLRP9: view

No data available for Pathways by source and SIGNOR curated interactions for NLRP9 Gene

Drugs & Compounds for NLRP9 Gene

No Compound Related Data Available

Transcripts for NLRP9 Gene

mRNA/cDNA for NLRP9 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP9

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP9 Gene

No ASD Table

Relevant External Links for NLRP9 Gene

GeneLoc Exon Structure for
NLRP9

Expression for NLRP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NLRP9 Gene

This gene is overexpressed in Breast (66.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NLRP9 Gene



Protein tissue co-expression partners for NLRP9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP9

SOURCE GeneReport for Unigene cluster for NLRP9 Gene:

Hs.661568

mRNA Expression by UniProt/SwissProt for NLRP9 Gene:

Q7RTR0-NLRP9_HUMAN
Tissue specificity: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed:28636595). Expressed in cerebral endothelial cells and, at much lower levels, in brain pericytes (PubMed:28432035).
genes like me logo Genes that share expression patterns with NLRP9: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP9 Gene

Orthologs for NLRP9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NLRP9 29 30
  • 96.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NLRP9 29 30
  • 77.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NLRP9 29 30
  • 72.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nlrp9 29
  • 62.78 (n)
Mouse
(Mus musculus)
Mammalia Nlrp9b 29 16 30
  • 61.65 (n)
OneToMany
Nlrp9a 30
  • 45 (a)
OneToMany
Nlrp9c 30
  • 45 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 28 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 29 (a)
OneToMany
Species where no ortholog for NLRP9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for NLRP9 Gene

ENSEMBL:
Gene Tree for NLRP9 (if available)
TreeFam:
Gene Tree for NLRP9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP9: view image
Alliance of Genome Resources:
Additional Orthologs for NLRP9

Paralogs for NLRP9 Gene

(10) SIMAP similar genes for NLRP9 Gene using alignment to 1 proteins:

  • NALP9_HUMAN

Pseudogenes.org Pseudogenes for NLRP9 Gene

genes like me logo Genes that share paralogs with NLRP9: view

Variants for NLRP9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP9 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs138496520 Benign: not provided 55,716,738(-) C/T
NM_176820.4(NLRP9):c.2320G>A (p.Glu774Lys)
MISSENSE
rs142730505 Benign: not provided 55,738,213(-) A/G
NM_176820.4(NLRP9):c.162T>C (p.Asp54=)
SYNONYMOUS
rs146098794 Benign: not provided 55,712,422(-) G/A
NM_176820.4(NLRP9):c.2670C>T (p.Leu890=)
SYNONYMOUS
rs146240166 Likely Benign: not provided 55,732,069(-) A/G
NM_176820.4(NLRP9):c.1762T>C (p.Cys588Arg)
MISSENSE
rs148511077 Benign: not provided 55,711,948(-) G/A
NM_176820.4(NLRP9):c.2695C>T (p.Arg899Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NLRP9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NLRP9 Gene

Variant ID Type Subtype PubMed ID
esv1008459 CNV insertion 20482838
esv27102 CNV gain 19812545
esv2758773 CNV gain 17122850
esv3331669 CNV duplication 20981092
esv3401861 CNV duplication 20981092
esv3583576 CNV loss 25503493
esv3644844 CNV loss 21293372
esv3644845 CNV loss 21293372
nsv1057383 CNV gain 25217958
nsv1058739 CNV loss 25217958
nsv1060269 CNV gain 25217958
nsv2554 CNV insertion 18451855
nsv510927 OTHER complex 20534489
nsv580344 CNV gain 21841781
nsv580345 CNV loss 21841781
nsv580346 CNV gain 21841781
nsv833882 CNV loss 17160897
nsv9771 CNV loss 18304495

Variation tolerance for NLRP9 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP9
Leiden Open Variation Database (LOVD)
NLRP9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP9 Gene

Disorders for NLRP9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NLRP9 Gene - From: COP

Disorder Aliases PubMed IDs
gestational trophoblastic neoplasm
  • gestational trophoblastic neoplasia
- elite association - COSMIC cancer census association via MalaCards
Search NLRP9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NLRP9

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NLRP9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP9 Gene

Publications for NLRP9 Gene

  1. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J … Burns K (Nature reviews. Molecular cell biology 2003) 2 3 4
  2. Nlrp9b inflammasome restricts rotavirus infection in intestinal epithelial cells. (PMID: 28636595) Zhu S … Flavell RA (Nature 2017) 3 4
  3. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 40
  4. NODs: intracellular proteins involved in inflammation and apoptosis. (PMID: 12766759) Inohara N … Nuñez G (Nature reviews. Immunology 2003) 3 4
  5. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. (PMID: 31900314) Chen Z … Chen J (Molecular & cellular proteomics : MCP 2020) 3

Products for NLRP9 Gene

Sources for NLRP9 Gene