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

NLRP14 Gene

protein-coding   GIFtS: 52
GCID: GC11P007017

NLR Family, Pyrin Domain Containing 14

(Previous names: NACHT, leucine rich repeat and PYD containing 14)
(Previous symbol: NALP14)
  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 141 2     CLR11.22
NALP141 2 3 5     GC-LRR2
NOD52 3 5     PAN82
NACHT, Leucine Rich Repeat And PYD Containing 141 2     NACHT, LRR And PYD Containing Protein 142
Nucleotide-Binding Oligomerization Domain Protein 52 3     NACHT, LRR And PYD Domains-Containing Protein 142
Leucine Rich Repeat And Pyrin Domain Containing 141     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 142
Nucleotide-Binding Oligomerization Domain1     

External Ids:    HGNC: 229391   Entrez Gene: 3383232   Ensembl: ENSG000001580777   OMIM: 6096655   UniProtKB: Q86W243   

Export aliases for NLRP14 gene to outside databases

Previous GC identifer: GC11P006700


(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 NLRP14 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 NLRP14 Gene: 
NLRP14 (NLR family, pyrin domain containing 14) is a protein-coding gene. Diseases associated with NLRP14 include crohn's disease, and chronic lymphocytic leukemia. GO annotations related to this gene include ATP binding. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24
Function: May be involved in inflammation and spermatogenesis

Gene Wiki entry for NLRP14 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_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NLRP14 gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP14 promoter sequence
   Search SABiosciences Chromatin IP Primers for NLRP14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP14


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

NLRP14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP14 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P007017:  view genomic region     (about GC identifiers)

Start:
7,041,677 bp from pter      End:
7,092,757 bp from pter
Size:
51,081 bases      Orientation:
plus 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: NAL14_HUMAN, Q86W24 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 14  
Size: 1093 amino acids; 124733 Da
Developmental stage: In the testis, expressed mainly in A dark spermatogonia, mid and late spermatocytes and
spermatids but not in mitotically active A pale and B spermatogonia
Secondary accessions: Q7RTR6

Explore the universe of human proteins at neXtProt for NLRP14: NX_Q86W24

Explore proteomics data for NLRP14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86W24

  • NLRP14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NLRP14 Protein Expression
    REFSEQ proteins: NP_789792.1  
    ENSEMBL proteins: 
     ENSP00000299481  

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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: NLRP14 
    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 Q86W24

    ProtoNet protein and cluster: Q86W24

    1 Blocks protein domain: IPB004020 Pyrin domain

    UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24
    Similarity: Belongs to the NLRP family
    Similarity: Contains 1 DAPIN domain
    Similarity: Contains 11 LRR (leucine-rich) repeats
    Similarity: Contains 1 NACHT domain


    NLRP14 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: NAL14_HUMAN, Q86W24
    Function: May be involved in inflammation and spermatogenesis

         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--
         
    NLRP14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NLRP14:
     Decreased viability after Chla 

    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 NLRP14

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IMP16931801
    GO:0030154cell differentiation IEA--

    NLRP14 for ontologies           About GeneDecksing



    (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 NLRP14 (NAL14)

    Search CenterWatch for drugs/clinical trials and news about NLRP14 / NAL14

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 NLRP14 gene: 
    NM_176822.3  

    Unigene Cluster for NLRP14:

    NLR family, pyrin domain containing 14
    Hs.449637  [show with all ESTs]
    Unigene Representative Sequence: AK310900
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000299481(uc001mfb.1)
    miRNA
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    Additional mRNA sequence: 

    AK310900.1 AY154469.1 

    1 DOTS entry:

    DT.40203418 

    4 AceView cDNA sequences:

    NM_176822 BK001107 AY154469 C15474 

    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

    NLRP14 expression in normal human tissues (normalized intensities)      NLRP14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTCTGGAT
    NLRP14 Expression
    About this image


    NLRP14 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)    fully expand to see all 2 entries
             Secondary follicles
             oocyte   
     
     Testis (Reproductive System)

    See NLRP14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NLRP14

    SOURCE GeneReport for Unigene cluster: Hs.449637

    UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24
    Tissue specificity: Testis-specific

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP14

    (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 human and mouse.

    Orthologs for NLRP14 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nlrp141 , 5 NLR family, pyrin domain containing 141, 5 70.66(n)1
    56.91(a)1
      7 (56.10 cM)5
    768581  NM_001002894.21  NP_001002894.21 
     1071669905 


    ENSEMBL Gene Tree for NLRP14 (if available)
    TreeFam Gene Tree for NLRP14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NLRP14 gene
    NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP72  NLRP112  
    NLRP102  NLRP22  NLRP52  NLRP82  NLRP122  
    12 SIMAP similar genes for NLRP14 using alignment to 1 protein entry:     NAL14_HUMAN:
    NLRP4    NLRP8    RNH1    NLRP7    NLRP13    NLRP5
    NLRP9    NLRP12    NLRP3    NLRP1    NLRP2    NLRP11

    NLRP14 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

    10/1239 SNPs in NLRP14 are shown (see all 1239)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363874
    A breast cancer sample4--see VAR_0363872 S C mis40--------
    rs1994758801,2
    Cuntested17060134(+) CGGGGA/GCTAGG 1 -- int10--------
    rs1994758841,2
    Cuntested17068006(+) ATCAGC/GAATGA 2 A G mis10--------
    rs1994758891,2
    Cuntested17091590(+) GACTGA/TTAAAA 2 I L mis10--------
    rs1994758901,2
    Cuntested17091711(+) CTCAGC/GGGGAG 1 -- int10--------
    VAR_0319334
    ----see VAR_0319332 R E mis40--------
    VAR_0319404
    ----see VAR_0319402 D Q mis40--------
    VAR_0319374
    ----see VAR_0319372 A T mis40--------
    VAR_0319344
    ----see VAR_0319342 D V mis40--------
    rs346887101,2
    C,F--6982562(+) CTTTCG/CTTTTT 1 -- int12Minor allele frequency- C:0.50NA 4

    HapMap Linkage Disequilibrium report for NLRP14 (7041677 - 7092757 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NLRP14:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2617222CNV Deletion19546169
    nsv832061CNV Loss17160897


    Human Gene Mutation Database (HGMD): NLRP14
    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: 609665    OMIM disorders: --

    3 diseases for NLRP14:    About MalaCards
    crohn's disease    chronic lymphocytic leukemia    leukemia


    NLRP14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NLRP14
    Human Genome Epidemiology (HuGE) Navigator: NLRP14 (3 documents)

    Export disorders for NLRP14 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 NLRP14 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NLRP14)
        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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (2010)
    4. 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)
    5. Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. (PubMed id 16931801)1, 2 Westerveld G.H.... Lombardi M.P. (2006)
    6. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (2003)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (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: 338323 HGNC: 22939 AceView: NALP14 Ensembl:ENSG00000158077 euGenes: HUgn338323
    ECgene: NLRP14 H-InvDB: NLRP14

    (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 NLRP14 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 NLRP14 gene:
    Search GeneIP for patents involving NLRP14

    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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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