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NLRP11 Gene

protein-coding   GIFtS: 53
GCID: GC19M056298

NLR Family, Pyrin Domain Containing 11

(Previous names: NACHT, leucine rich repeat and PYD containing 11)
(Previous symbol: NALP11)
  See NLRP11-related disease
at  

(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 111 2     PYPAF72 5
NALP111 2 3 5     Leucine Rich Repeat And Pyrin Domain Containing 111
NOD172 3 5     Nucleotide-Binding Oligomerization Domain1
NACHT, Leucine Rich Repeat And PYD Containing 111 2     CLR19.62
Nucleotide-Binding Oligomerization Domain Protein 172 3     NACHT, LRR And PYD Containing Protein 112
PAN102 3     NACHT, LRR And PYD Domains-Containing Protein 112
PYPAF62 3     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 112
PAAD-And NACHT Domain-Containing Protein 102 3     PAAD- And NACHT-Containing Protein 102
PYRIN-Containing APAF1-Like Protein 62 3     PAAD- And NACHT-Containing Protein 10B2

External Ids:    HGNC: 229451   Entrez Gene: 2048012   Ensembl: ENSG000001798737   OMIM: 6096645   UniProtKB: P590453   

Export aliases for NLRP11 gene to outside databases

Previous GC identifers: GC19M060989 GC19M052608


(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 NLRP11 Gene:
NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short
NALPs, such as NALP11, have an N-terminal pyrin (MEFV; MIM 608107) domain (PYD), followed by a NACHT domain, a
NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM
606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment
domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via
their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003 (PubMed
12563287)).(supplied by OMIM, Mar 2008)

GeneCards Summary for NLRP11 Gene:
NLRP11 (NLR family, pyrin domain containing 11) is a protein-coding gene. Diseases associated with NLRP11 include necrotizing fasciitis. GO annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NAL11_HUMAN, P59045
Function: Involved in inflammation (Potential)

Gene Wiki entry for NLRP11 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 NLRP11 gene promoter:
         AML1a   NF-kappaB   E47   AREB6   CBF-A   CBF-B   NF-kappaB1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP11 promoter sequence
   Search Chromatin IP Primers for NLRP11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP11


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

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

NLRP11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP11 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M056298:  view genomic region     (about GC identifiers)

Start:
56,296,763 bp from pter      End:
56,348,166 bp from pter
Size:
51,404 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NAL11_HUMAN, P59045 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 11  
Size: 1033 amino acids; 117779 Da
Sequence caution: Sequence=BAC03490.1; Type=Erroneous initiation;
Secondary accessions: C9JSF5 Q2TV85 Q2TV86 Q53ZZ0 Q8NBF5
Alternative splicing: 3 isoforms:  P59045-1   P59045-2   P59045-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NLRP11: NX_P59045

Explore proteomics data for NLRP11 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys917
  • Modification sites at PhosphoSitePlus

  • See NLRP11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659444.2  
    ENSEMBL proteins: 
     ENSP00000468082   ENSP00000468196   ENSP00000466285   ENSP00000466582   ENSP00000467988  
     ENSP00000468696   ENSP00000409898   ENSP00000353251  

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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: NLRP11
    NOD-like receptor family

    4 InterPro protein domains:
     IPR020611 Cu2_ascorb_mOase_CS-1
     IPR007111 NACHT_NTPase
     IPR004020 DAPIN
     IPR011029 DEATH-like_dom

    Graphical View of Domain Structure for InterPro Entry P59045

    ProtoNet protein and cluster: P59045

    4 Blocks protein domains:
    IPB001209 Ribosomal protein S14
    IPB001611 Leucine-rich repeat signature
    IPB003590 Leucine-rich repeat
    IPB004020 Pyrin domain


    UniProtKB/Swiss-Prot: NAL11_HUMAN, P59045
    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 NLRP11           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: NAL11_HUMAN, P59045
    Function: Involved in inflammation (Potential)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016715oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with NLRP11           About GenesLikeMe


    Animal Models:
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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 COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol1
    peroxisome1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NLRP11
    Interactions:

        GeneGlobe Interaction Network for NLRP11

    (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 NLRP11 (NAL11)



    (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 NLRP11 gene: 
    NM_145007.3  

    Unigene Cluster for NLRP11:

    NLR family, pyrin domain containing 11
    Hs.375039  [show with all ESTs]
    Unigene Representative Sequence: NM_145007
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589824 ENST00000592953 ENST00000589093 ENST00000590409 ENST00000593244
    ENST00000593208 ENST00000443188(uc002qmb.3 uc010ygf.2 uc002qmc.3 uc010ete.1)
    ENST00000360133(uc002qlz.3)
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    Additional mRNA sequence: 

    AK090621.1 AK129784.1 AK310394.1 AY095145.1 AY154466.1 AY168967.1 AY168968.1 AY226382.1 
    BC034730.1 BC036506.1 

    5 DOTS entries:

    DT.100019248  DT.91907117  DT.95150835  DT.104757  DT.91846373 

    20 AceView cDNA sequences:

    AY154466 AK129784 AY226382 AK097646 BG686053 BC036506 AK090621 BC034730 
    BF975539 BM476390 BM804437 BU622142 AX746538 NM_145007 AY095145 BG759089 
    AA976034 BI459025 BF797150 BG685962 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NLRP11    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                            
    SP2:                    -                                       


    ECgene alternative splicing isoforms for NLRP11

    (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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    NLRP11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTACGTAA
    NLRP11 Expression
    About this image


    NLRP11 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
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
    NLRP11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NLRP11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.375039
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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 NLRP11 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    oppossum
    (Monodelphis domestica)
    Mammalia --
    --
    26(a)
    1 → many
    Un(44079989-44098595)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    26(a)
    1 → many
    GL343482.1(99797-117577)


    ENSEMBL Gene Tree for NLRP11 (if available)
    TreeFam Gene Tree for NLRP11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NLRP11 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    6 SIMAP similar genes for NLRP11 using alignment to 4 protein entries:     NAL11_HUMAN (see all proteins):
    CIAS1    RNH1    NLRP9    NLRP4    NLRP13    NLRP14

    Find genes that share paralogs with NLRP11           About GenesLikeMe



    (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 NLRP11 (see all 1443)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994758611,2
    Cuntested156303726(-) AATTAC/TGGAGT 2 Y syn10--------
    rs1413669001,2
    Cuntested156319229(+) TGTGCA/GAAGTT 2 R C mis10--------
    rs1994762391,2
    Cuntested156319386(-) CTTCTA/GTGTAG 1 -- int10--------
    rs1994762361,2
    Cuntested156319879(-) GGTTTA/C/GGCAGT 1 -- int10--------
    rs739333631,2
    C,F--56296293(+) GGGCAC/TTGTAA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1394059471,2
    --56296395(+) CCACAC/TATATC 1 -- int10--------
    rs21128311,2
    C,F,A--56296492(+) AGATAC/GGGAAA 1 -- int17Minor allele frequency- G:0.16WA NA CSA EA 366
    rs21128321,2
    C,F,A,H--56296555(+) AATACG/TAAGTC 1 -- int121Minor allele frequency- T:0.20NS EA NA WA CSA 2348
    rs21128331,2
    C,F,A,H--56296582(+) TGAGGA/TTTTCA 1 -- int121Minor allele frequency- T:0.21NS EA NA WA CSA 2342
    rs1898754201,2
    --56296586(+) GATTTC/TATTTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NLRP11 (56296763 - 56348166 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NLRP11 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718989CNV Deletion23290073
    esv2586154CNV Deletion19546169
    esv2660360CNV Deletion23128226
    nsv509753CNV Insertion20534489
    nsv2556CNV Insertion18451855
    nsv526248CNV Loss19592680
    nsv525923CNV Loss19592680
    nsv833882CNV Loss17160897
    nsv912506CNV Gain21882294
    nsv912505CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NLRP11
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    (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: 609664    OMIM disorders: --

    1 disease for NLRP11:    
    About MalaCards
    necrotizing fasciitis

    1 disease from the University of Copenhagen DISEASES database for NLRP11:
    Necrotizing fasciitis

    Find genes that share disorders with NLRP11           About GenesLikeMe

    Genetic Association Database (GAD): NLRP11
    Human Genome Epidemiology (HuGE) Navigator: NLRP11 (2 documents)

    Export disorders for NLRP11 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 NLRP11 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with NLRP11)
        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. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PubMed id 12019269)1, 2, 3 Wang L.... Bertin J. (J. Biol. Chem. 2002)
    3. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PubMed id 22267201)1, 4 Stolk L....Lunetta K.L. (Nat. Genet. 2012)
    4. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
    5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (Hum. Mol. Genet. 2009)
    6. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. (PubMed id 12615073)1, 2 Dowds T.A.... Nunez G. (Biochem. Biophys. Res. Commun. 2003)
    10. Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. (PubMed id 12387869)1, 9 Grenier J.M.... Bertin J. (FEBS Lett. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 204801 HGNC: 22945 AceView: NALP11 Ensembl:ENSG00000179873 euGenes: HUgn204801
    ECgene: NLRP11 H-InvDB: NLRP11

    (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 NLRP11 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 NLRP11 gene:
    Search GeneIP for patents involving NLRP11

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (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, LSBio, eBioscience, 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
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