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NLRP14 Gene

protein-coding   GIFtS: 51
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)
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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     NLRP15

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spermatogenic failure, and crohn's disease. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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


See NLRP14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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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:
 IPR007111 NACHT_NTPase
 IPR027417 P-loop_NTPase
 IPR004020 DAPIN
 IPR011029 DEATH-like_dom

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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

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

     Gene Ontology (GO): 1 molecular function term:    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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hsa-mir-335-5p (MIRT018844)

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hsa-miR-579
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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
cytosol3

(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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Interactions:

    Search GeneGlobe Interaction Network for NLRP14

Gene Ontology (GO): 3 biological process terms:    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, 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 drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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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hsa-miR-579
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Additional mRNA sequence: 

AK310900.1 AY154469.1 

1 DOTS entry:

DT.40203418 

4 AceView cDNA sequences:

AY154469 NM_176822 BK001107 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™, 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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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
 selected tissues (see all 2) fully expand
 
 Ovary (Reproductive System)
         Secondary follicles
 
 Testis (Reproductive System)
NLRP14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NLRP14 Protein Expression

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:
 

 
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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 NLRP14 gene from Selected species (see all 7)    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 70.54(n)1
56.84(a)1
  7 (56.10 cM)5
768581  NM_001002894.21  NP_001002894.21 
 1071669905 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
30(a)
1 → many
GL343482.1(99797-117577)


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)
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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    NLRP3
NLRP5    NLRP9    NLRP12    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), 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 NLRP14 (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--------
rs346887101,2
C,F--6982562(+) CTTTCG/CTTTTT 1 -- int12Minor allele frequency- C:0.50NA 4
rs13885321,2
C,F,O--7043758(+) TTAGGG/AGCCAA 1 -- int15Minor allele frequency- A:0.01NA 262
rs1181385301,2
C,F--7043790(+) TTTAAG/ACAGCC 1 -- int11Minor allele frequency- A:0.02NA 120
rs23460051,2
H--7043840(+) AATTCT/GTAAGA 1 -- int14Minor allele frequency- G:0.00NS EA 420
rs107697541,2
C,F,A,H--7043918(+) AGATCA/GGAGGA 1 -- int115Minor allele frequency- G:0.43NA WA CSA EA 517

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
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NLRP14
DNA2.0 Custom Variant and Variant Library Synthesis for NLRP14

(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.)
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OMIM gene information: 609665    OMIM disorders: --

6 diseases for NLRP14:    About MalaCards
spermatogenic failure    crohn's disease    breast and colorectal cancer    chronic lymphocytic leukemia
leukemia    colorectal cancer


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)
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PubMed articles for NLRP14 gene integrated from 10 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. (Nat. Rev. Mol. Cell Biol. 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. (Mol. Med. 2010)
  3. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 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. (Cancer Res. 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. (Hum. Reprod. 2006)
  6. NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)1, 2 Inohara N. and Nunez G. (Nat. Rev. Immunol. 2003)
  7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 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. (Genome Res. 2006)

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

(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 NLRP14 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NLRP14
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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