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NLRP9 Gene

protein-coding   GIFtS: 49
GCID: GC19M056219

NLR Family, Pyrin Domain Containing 9

(Previous names: NACHT, leucine rich repeat and PYD containing 9)
(Previous symbol: NALP9)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NLR Family, Pyrin Domain Containing 91 2     Leucine Rich Repeat And Pyrin Domain Containing 91
NALP91 2 3 5     Nucleotide-Binding Oligomerization Domain1
NOD62 3 5     CLR19.12
NACHT, Leucine Rich Repeat And PYD Containing 91 2     NACHT, LRR And PYD Containing Protein 92
Nucleotide-Binding Oligomerization Domain Protein 62 3     NACHT, LRR And PYD Domains-Containing Protein 92
PAN122 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 92
PYRIN And NACHT-Containing Protein 122 3     

External Ids:    HGNC: 229411   Entrez Gene: 3383212   Ensembl: ENSG000001857927   OMIM: 6096635   UniProtKB: Q7RTR03   

Export aliases for NLRP9 gene to outside databases

Previous GC identifers: GC19M060912 GC19M052531


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: NALP9_HUMAN, Q7RTR0
Function: Involved in inflammation (Potential)

Gene Wiki entry for NLRP9 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRP9 gene promoter:
         C/EBPbeta   Nkx2-5   POU3F2   C/EBPalpha   AREB6   Nkx6-1   Cart-1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP9 promoter sequence
   Search Chromatin IP Primers for NLRP9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.43

NLRP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP9 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M056219:  view genomic region     (about GC identifiers)

Start:
56,219,798 bp from pter      End:
56,249,768 bp from pter
Size:
29,971 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 9  
Size: 991 amino acids; 113312 Da
Secondary accessions: B2RN12 Q86W27
Alternative splicing: 2 isoforms:  Q7RTR0-1   Q7RTR0-2   

Explore the universe of human proteins at neXtProt for NLRP9: NX_Q7RTR0

Explore proteomics data for NLRP9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NLRP9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_789790.2  
    ENSEMBL proteins: 
     ENSP00000331857   ENSP00000465253  

    NLRP9 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NLR: Nucleotide-binding domain and leucine rich repeat containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP9
    NOD-like receptor family

    4 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR007111 NACHT_NTPase
     IPR027417 P-loop_NTPase
     IPR004020 DAPIN

    Graphical View of Domain Structure for InterPro Entry Q7RTR0

    ProtoNet protein and cluster: Q7RTR0

    2 Blocks protein domains:
    IPB001611 Leucine-rich repeat signature
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 6 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    Find genes that share domains with NLRP9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NALP9_HUMAN, Q7RTR0
    Function: Involved in inflammation (Potential)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with NLRP9           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NLRP9

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NALP9_HUMAN, Q7RTR0: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with NLRP9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including NLRP9: 
              Inflammasomes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NLRP9

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NLRP9 (NALP9)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NLRP9 gene: 
    NM_176820.3  

    Unigene Cluster for NLRP9:

    NLR family, pyrin domain containing 9
    Hs.661568  [show with all ESTs]
    Unigene Representative Sequence: NM_176820
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332836(uc002qly.3) ENST00000590200
    miRNA
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    Additional mRNA sequence: 

    AY154464.1 BC136583.1 

    2 DOTS entries:

    DT.100737300  DT.300129 

    8 AceView cDNA sequences:

    BK001114 BF221992 NM_176820 AW444760 AW449134 AY154464 BX107249 BF380801 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NLRP9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NLRP9 Expression
    About this image


    NLRP9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
    NLRP9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.661568
        Pathway & Disease-focused RT2 Profiler PCR Array including NLRP9: 
              Inflammasomes in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NLRP9 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp9b1 , 5 NLR family, pyrin domain containing 9B1, 5 61.65(n)1
    46.57(a)1
      7 (9.96 cM)5
    2438741  NM_194058.21  NP_918947.21 
     200080235 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    29(a)
    1 → many
    GL343482.1(99797-117577)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP9 gene
    NLRP42  NLRP132  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    10 SIMAP similar genes for NLRP9 using alignment to 1 protein entry:     NALP9_HUMAN:
    NLRP4    NLRP11    RNH1    NLRP14    NLRP8    NLRP12
    NLRP13    NLRP2    NLRP3    NLRP7

    Find genes that share paralogs with NLRP9           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NLRP9
    PGOHUM00000239958


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NLRP9 (see all 1035)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363864
    A breast cancer sample4--see VAR_0363862 G D mis40--------
    rs1994762291,2
    Cuntested156223996(-) TTGACC/G/TTCATA 1 -- int10--------
    rs1994758471,2
    Cuntested156244175(-) GTGCTA/G/TGTTGG 2 W L mis10--------
    rs72567361,2
    C,F,H--56219335(+) TGTGGG/AAAAAG 1 -- ds50019Minor allele frequency- A:0.05NS EA NA WA CSA 536
    rs177004471,2
    C--56219377(+) GTTCAT/CAATTG 1 -- ds50015Minor allele frequency- C:0.01NA 138
    rs1824330361,2
    --56219451(+) GATTAC/TAGAAA 1 -- ds50010--------
    rs1133734391,2
    C,F--56219477(+) TATCCC/AAAGAA 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1151282361,2
    F--56219497(+) GTGCCA/CAGAGA 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1399568141,2
    --56219570(+) GATAAC/TTGATT 1 -- ds50010--------
    rs1880409081,2
    --56219576(+) TGATTA/GTATAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NLRP9 (56219798 - 56249768 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for NLRP9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2554CNV Insertion18451855
    esv1008459CNV Insertion20482838
    nsv9771CNV Loss18304495
    nsv833882CNV Loss17160897
    nsv912506CNV Gain21882294
    esv27102CNV Gain19812545
    nsv912505CNV Gain21882294
    dgv1132e1CNV Complex17122850
    nsv510927CNV Complex20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLRP9
    DNA2.0 Custom Variant and Variant Library Synthesis for NLRP9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609663    OMIM disorders: --


    Find genes that share disorders with NLRP9           About GenesLikeMe

    Genetic Association Database (GAD): NLRP9
    Human Genome Epidemiology (HuGE) Navigator: NLRP9 (1 document)

    Export disorders for NLRP9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NLRP9 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NLRP9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)1, 2, 3 Tschopp J.... Burns K. (Nat. Rev. Mol. Cell Biol. 2003)
    2. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
    3. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (Nat. Rev. Immunol. 2003)
    4. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PubMed id 23377640)1 (Am J Psychiatry 2013)
    5. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    8. Bovine NALP5, NALP8, and NALP9 genes: assignment to a QTL region and the expression in adult tissues, oocytes, and preimplantation embryos. (PubMed id 16339045)9 Ponsuksili S....Schwerin M. (Biol. Reprod. 2006)
    9. Bovine mater-like NALP9 is an oocyte marker gene. (PubMed id 15892040)9 DalbiA"s-Tran R....Monget P. (Mol. Reprod. Dev. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 338321 HGNC: 22941 AceView: NALP9 Ensembl:ENSG00000185792 euGenes: HUgn338321
    ECgene: NLRP9 H-InvDB: NLRP9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NLRP9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NLRP9 gene:
    Search GeneIP for patents involving NLRP9

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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Block miRNA regulation of human, mouse, rat NLRP9 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NLRP9
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