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Aliases for NLRP9 Gene

Aliases for NLRP9 Gene

  • NLR Family Pyrin Domain Containing 9 2 3 5
  • 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
  • PYRIN And NACHT-Containing Protein 12 3 4
  • NALP9 3 4
  • PAN12 3 4
  • NOD6 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 9 3
  • NACHT, LRR And PYD Containing Protein 9 3
  • CLR19.1 3

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. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot 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

Additional gene information for NLRP9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP9 Gene

Genomics for NLRP9 Gene

GeneHancer (GH) Regulatory Elements for NLRP9 Gene

Promoters and enhancers for NLRP9 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
GH19I055466 Enhancer 0.6 FANTOM5 2.9 +279.1 279146 0.3 SMARCE1 BCOR HDGF ZMYM3 ZNF311 ZNF48 ZNF121 FOSL1 GATA3 DIDO1 C19orf85 ENSG00000279063 SBK3 NLRP11 NLRP8 NLRP9
GH19I055707 Enhancer 0.4 FANTOM5 3.1 +38.3 38287 0.1 CHD7 ENSG00000267689 ENSG00000268593 GC19P055709 GC19P055710 GC19P055711 VN1R106P NLRP9 U2AF2 KMT5C EPN1
GH19I055713 Enhancer 0.2 FANTOM5 0.3 +32.3 32324 0.3 TMEM150B GC19P055710 RN7SKP109 NLRP9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NLRP9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NLRP9 gene promoter:

Genomic Locations for NLRP9 Gene

Genomic Locations for NLRP9 Gene
chr19:55,708,432-55,745,528
(GRCh38/hg38)
Size:
37,097 bases
Orientation:
Minus strand
chr19:56,219,798-56,249,768
(GRCh37/hg19)

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).

    Alternative splice isoforms for NLRP9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP9 Gene

Post-translational modifications for NLRP9 Gene

No Post-translational modifications

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NLRP9 Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for NLRP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:

miRNA for NLRP9 Gene

miRTarBase miRNAs that target NLRP9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for NLRP9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0061702 inflammasome complex IDA,IEA 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

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

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NLRP9 Gene

NLR family, pyrin domain containing 9:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for NLRP9 Gene

GeneLoc Exon Structure for
NLRP9
ECgene alternative splicing isoforms for
NLRP9

Expression for NLRP9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for NLRP9 Gene



Protein tissue co-expression partners for NLRP9 Gene

NURSA nuclear receptor signaling pathways regulating expression of NLRP9 Gene:

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

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 33 34
  • 96.61 (n)
dog
(Canis familiaris)
Mammalia NLRP9 33 34
  • 77.24 (n)
cow
(Bos Taurus)
Mammalia NLRP9 33 34
  • 72.01 (n)
rat
(Rattus norvegicus)
Mammalia Nlrp9 33
  • 62.78 (n)
mouse
(Mus musculus)
Mammalia Nlrp9b 33 16 34
  • 61.65 (n)
Nlrp9a 34
  • 45 (a)
OneToMany
Nlrp9c 34
  • 45 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 28 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 29 (a)
OneToMany
Species where no ortholog for NLRP9 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)
  • 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)
  • zebrafish (Danio rerio)

Evolution for NLRP9 Gene

ENSEMBL:
Gene Tree for NLRP9 (if available)
TreeFam:
Gene Tree for NLRP9 (if available)

Paralogs for NLRP9 Gene

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

Pseudogenes.org Pseudogenes for NLRP9 Gene

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

Variants for NLRP9 Gene

Sequence variations from dbSNP and Humsavar for NLRP9 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
VAR_036386 A breast cancer sample p.Gly425Asp
rs199475846 not-provided, not provided 55,738,355(-) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs199475847 not-provided, not provided 55,732,809(-) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, stop_gained
rs199475848 not-provided, not provided 55,732,775(-) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant
rs199475849 not-provided, not provided 55,732,613(-) A/G/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, synonymous_variant

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

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

Disorders for NLRP9 Gene

Additional Disease Information for NLRP9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for NLRP9 Gene.

No data available for MalaCards , 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 58
  2. Nlrp9b inflammasome restricts rotavirus infection in intestinal epithelial cells. (PMID: 28636595) Zhu S … Flavell RA (Nature 2017) 3 4 58
  3. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 44 58
  4. NODs: intracellular proteins involved in inflammation and apoptosis. (PMID: 12766759) Inohara N … Nuñez G (Nature reviews. Immunology 2003) 3 4 58
  5. Expression of pattern recognition receptors and activation of the non-canonical inflammasome pathway in brain pericytes. (PMID: 28432035) Nyúl-Tóth Á … Krizbai IA (Brain, behavior, and immunity 2017) 4 58

Products for NLRP9 Gene

Sources for NLRP9 Gene

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