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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NLRP13 Gene

protein-coding   GIFtS: 49
GCID: GC19M056407

NLR Family, Pyrin Domain Containing 13

(Previous names: NACHT, leucine rich repeat and PYD containing 13)
(Previous symbol: NALP13)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 131 2     Nucleotide-Binding Oligomerization Domain1
NALP131 2 3 5     CLR19.72
NOD142 3 5     PAN132
NACHT, Leucine Rich Repeat And PYD Containing 131 2     NACHT, LRR And PYD Containing Protein 132
Nucleotide-Binding Oligomerization Domain Protein 142 3     NACHT, LRR And PYD Domains-Containing Protein 132
Leucine Rich Repeat And Pyrin Domain Containing 131     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 132

External Ids:    HGNC: 229371   Entrez Gene: 1262042   Ensembl: ENSG000001735727   OMIM: 6096605   UniProtKB: Q86W253   

Export aliases for NLRP13 gene to outside databases

Previous GC identifers: GC19M061100 GC19M052718


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP13 Gene:
NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short
NALPs, such as NALP13, 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 NLRP13 Gene: 
NLRP13 (NLR family, pyrin domain containing 13) is a protein-coding gene. Diseases associated with NLRP13 include smallpox, and crohn's disease. GO annotations related to this gene include ATP binding. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NAL13_HUMAN, Q86W25
Function: Involved in inflammation (Potential)

Gene Wiki entry for NLRP13 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NLRP13
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP13 promoter sequence
   Search SABiosciences Chromatin IP Primers for NLRP13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP13


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

NLRP13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP13 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M056407:  view genomic region     (about GC identifiers)

Start:
56,403,065 bp from pter      End:
56,443,702 bp from pter
Size:
40,638 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NAL13_HUMAN, Q86W25 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 13  
Size: 1043 amino acids; 118884 Da
Secondary accessions: Q7RTR5

Explore the universe of human proteins at neXtProt for NLRP13: NX_Q86W25

Explore proteomics data for NLRP13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86W25

  • NLRP13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NLRP13 Protein Expression
    REFSEQ proteins: NP_789780.2  
    ENSEMBL proteins: 
     ENSP00000467899   ENSP00000343891  

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

    IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP13 
    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 Q86W25

    ProtoNet protein and cluster: Q86W25

    1 Blocks protein domain: IPB004020 Pyrin domain

    UniProtKB/Swiss-Prot: NAL13_HUMAN, Q86W25
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 7 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRP13 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAL13_HUMAN, Q86W25
    Function: Involved in inflammation (Potential)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    NLRP13 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NLRP13

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NLRP13 (NAL13)

    Search CenterWatch for drugs/clinical trials and news about NLRP13 / NAL13

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NLRP13 gene: 
    NM_176810.2  

    Unigene Cluster for NLRP13:

    NLR family, pyrin domain containing 13
    Hs.446924
    Unigene Representative Sequence: NM_176810
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588751 ENST00000342929(uc010ygg.2)
    miRNA
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    Additional mRNA sequence: AY154468.1 

    1 DOTS entry:

    DT.100737521 

    4 AceView cDNA sequences:

    BK001108 NM_176810 AY154468 BV182993 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NLRP13 expression in normal human tissues (normalized intensities)      NLRP13 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCTGCAG
    NLRP13 Expression
    About this image


    NLRP13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle

    See NLRP13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP13

    SOURCE GeneReport for Unigene cluster: Hs.446924
        SABiosciences Custom PCR Arrays for NLRP13
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP13

    (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)
    About This Section

    This gene was present in the common ancestor of mammals.

    Orthologs for NLRP13 gene from 1/4 species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia NLRP131 NLR family, pyrin domain containing 13 74.68(n)
    61.41(a)
      484287  XM_541402.3  XP_541402.3 


    ENSEMBL Gene Tree for NLRP13 (if available)
    TreeFam Gene Tree for NLRP13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NLRP13 gene
    NLRP42  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    11 SIMAP similar genes for NLRP13 using alignment to 1 protein entry:     NAL13_HUMAN:
    CIAS1    NLRP14    NLRP3    NLRP12    NLRP11    NLRP2
    NLRP5    NLRP9    NLRP4    NLRP8    NLRP7

    NLRP13 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1323 SNPs in NLRP13 are shown (see all 1323)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994758781,2
    Cuntested156407485(-) CCTAGA/GTTGGC 2 G syn10--------
    rs1994762591,2
    Cuntested156413578(-) TTCACA/CCTGCA 1 -- int10--------
    rs1994762551,2
    Cuntested156421895(-) AGATAA/C/TCCTAG 1 -- int10--------
    rs1994762541,2
    Cuntested156422307(-) CAGACA/GGGGCT 1 -- int10--------
    rs1994758751,2
    Cuntested156423653(-) GAAGTA/GCCTTT 2 V syn10--------
    rs1994762511,2
    Cuntested156435533(-) CTAGCA/GTGGGC 1 -- int10--------
    rs1994762491,2
    Cuntested156443314(-) TACTCC/TTGAGG 1 -- int10--------
    rs72546601,2
    C,A--56406811(+) TGAGAC/TGCCGA 1 -- ds50010--------
    rs1180362551,2
    C,F--56406878(+) ACCCCC/AATCTC 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1132551191,2
    F--56407057(+) AAAGGT/AGAAAG 1 -- ds50011Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for NLRP13 (56403065 - 56443702 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NLRP13:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912507CNV Gain21882294
    nsv912508CNV Gain21882294
    nsv510927CNV Complex20534489

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609660    OMIM disorders: --

    4 diseases for NLRP13:    About MalaCards
    smallpox    crohn's disease    chronic lymphocytic leukemia    leukemia


    NLRP13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NLRP13
    Human Genome Epidemiology (HuGE) Navigator: NLRP13 (2 documents)

    Export disorders for NLRP13 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)
    About This Section

    PubMed articles for NLRP13 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NLRP13)
        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. (2003)
    2. The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (2010)
    3. 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. (2008)
    4. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (2003)
    5. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (2012)
    6. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 126204 HGNC: 22937 AceView: NALP13 Ensembl:ENSG00000173572 euGenes: HUgn126204
    ECgene: NLRP13 H-InvDB: NLRP13

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NLRP13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NLRP13 gene:
    Search GeneIP for patents involving NLRP13

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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