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NLRP5 Gene

protein-coding   GIFtS: 52
GCID: GC19P056511

NLR Family, Pyrin Domain Containing 5

(Previous names: NACHT, leucine rich repeat and PYD containing 5)
(Previous symbol: NALP5)
  See NLRP5-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 51 2     CLR19.82
NALP51 2 3 5     PAN112
MATER2 3 5     PYPAF82
NACHT, Leucine Rich Repeat And PYD Containing 51 2     Maternal Antigen That Embryos Require2
Mater Protein Homolog2 3     NACHT, LRR And PYD Domains-Containing Protein 52
Leucine Rich Repeat And Pyrin Domain Containing 51     Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin
Domain Containing 52
Nucleotide-Binding Oligomerization Domain1     

External Ids:    HGNC: 212691   Entrez Gene: 1262062   Ensembl: ENSG000001714877   OMIM: 6096585   UniProtKB: P590473   

Export aliases for NLRP5 gene to outside databases

Previous GC identifers: GC19P061203 GC19P052821


(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 NLRP5 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). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a
maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. (provided
by RefSeq, Jul 2008)

GeneCards Summary for NLRP5 Gene:
NLRP5 (NLR family, pyrin domain containing 5) is a protein-coding gene. Diseases associated with NLRP5 include autoimmune polyendocrine syndrome type 1. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NALP5_HUMAN, P59047
Function: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress
beyond the first embryonic cell divisions (By similarity)

Gene Wiki entry for NLRP5 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  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NLRP5 gene promoter:
         NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNLRP5 promoter sequence
   Search Chromatin IP Primers for NLRP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP5


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

NLRP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP5 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P056511:  view genomic region     (about GC identifiers)

Start:
56,511,092 bp from pter      End:
56,573,179 bp from pter
Size:
62,088 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, 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: NALP5_HUMAN, P59047 (See protein sequence)
Recommended Name: NACHT, LRR and PYD domains-containing protein 5  
Size: 1200 amino acids; 134342 Da
Subunit: Component of the SCMC which also includes at least OOEP and TLE6 (By similarity)
Secondary accessions: A8MTY4 Q86W29

Explore the universe of human proteins at neXtProt for NLRP5: NX_P59047

Explore proteomics data for NLRP5 at MOPED


See NLRP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_703148.4  
ENSEMBL proteins: 
 ENSP00000375063   ENSP00000471494  

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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: NLRP5
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 P59047

ProtoNet protein and cluster: P59047

2 Blocks protein domains:
IPB003590 Leucine-rich repeat
IPB004020 Pyrin domain


UniProtKB/Swiss-Prot: NALP5_HUMAN, P59047
Similarity: Belongs to the NLRP family
Similarity: Contains 1 DAPIN domain
Similarity: Contains 13 LRR (leucine-rich) repeats
Similarity: Contains 1 NACHT domain


Find genes that share domains with NLRP5           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: NALP5_HUMAN, P59047
Function: As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress
beyond the first embryonic cell divisions (By similarity)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0005524ATP binding IEA--
     
Find genes that share ontologies with NLRP5           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for NLRP5:
 Decreased viability after Chla  Increased cell number in G1, a 

     3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nlrp5):
 embryogenesis  other  reproductive system 

Find genes that share phenotypes with NLRP5           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Nlrp5tm1Zbt for NLRP5

   genOway: Develop your customized and physiologically relevant rodent model for NLRP5

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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
NALP5_HUMAN, P59047: Mitochondrion (By similarity). Nucleus, nucleolus (By similarity). Cytoplasm (By
similarity). Note=In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From
the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion4
nucleus4
cytosol3
extracellular1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005730nucleolus ISS--
GO:0005739mitochondrion ISS--
GO:0005829cytosol IEA--
GO:0005938cell cortex ----
GO:0043234protein complex IEA--

Find genes that share ontologies with NLRP5           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 NLRP5: 
          Inflammasomes in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for NLRP5

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for NLRP5 (P590473 ENSP000003750634) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
KHDC3LQ587J83, ENSP000003593924I2D: score=2 STRING: ENSP00000359392
OOEPA6NGQ23, ENSP000003593844STRING: ENSP00000359384 I2D: score=3 
TLE6Q9H8083, ENSP000002461124I2D: score=3 STRING: ENSP00000246112
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001701in utero embryonic development IEA--
GO:0007566embryo implantation IEA--
GO:0009566fertilization IEA--
GO:0009887organ morphogenesis IEA--
GO:0031647regulation of protein stability IEA--

Find genes that share ontologies with NLRP5           About GenesLikeMe



(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 NLRP5 (NALP5)



(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 NLRP5 gene: 
NM_153447.4  

Unigene Cluster for NLRP5:

NLR family, pyrin domain containing 5
Hs.356872  [show with all ESTs]
Unigene Representative Sequence: AY154460
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000390649(uc002qmj.3 uc002qmi.3) ENST00000597673
miRNA
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Additional mRNA sequence: 

AY054986.1 AY154460.1 

1 DOTS entry:

DT.100010128 

7 AceView cDNA sequences:

NM_153447 AY154460 BU634350 BU630481 AY054986 BU618831 CK000513 

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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NLRP5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TGGACTGACT
NLRP5 Expression
About this image


NLRP5 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Ovary (Reproductive System)    fully expand to see all 3 entries
         Secondary Oocyte Antral Follicle
         Oviduct
         Secondary follicles
 
 Gonad
         Secondary Oocyte Antral Follicle
 
 Trophoblast (Extraembryonic Tissues)
         Trophoblast Cells Trophoblast
 
 Eye (Sensory Organs)
         Retina
 
 Brain (Nervous System)
         Cerebellum
NLRP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NLRP5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.356872

UniProtKB/Swiss-Prot: NALP5_HUMAN, P59047
Tissue specificity: Oocyte-specific

    Pathway & Disease-focused RT2 Profiler PCR Array including NLRP5: 
          Inflammasomes in human mouse rat

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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 NLRP5 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nlrp51 , 5 NLR family, pyrin domain containing 51, 5 66.03(n)1
53.47(a)1
  7 (10.22 cM)5
239681  NM_011860.21  NP_035990.11 
 233858895 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
27(a)
1 → many
GL343482.1(99797-117577)


ENSEMBL Gene Tree for NLRP5 (if available)
TreeFam Gene Tree for NLRP5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for NLRP5 gene
NLRP42  NLRP132  NLRP92  NLRC32  NLRP62  NLRP32  NLRP142  NLRP72  
NLRP112  NLRP102  NLRP22  NLRP82  NLRP122  
11 SIMAP similar genes for NLRP5 using alignment to 2 protein entries:     NALP5_HUMAN (see all proteins):
CIAS1    NLRP14    PYDC2    NLRP8    RNH1    NLRP13
NLRP12    NLRP2    NLRP4    NLRP7    NLRP3

Find genes that share paralogs with NLRP5           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 NLRP5 (see all 2655)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1994757591,2
Cuntested156510842(+) AGTAGC/TGTCGT 1 -- us2k10--------
rs1994757631,2
Cuntested156511154(+) CGTGCA/GTCGAC 1 -- spd10--------
rs1994757681,2
Cuntested156531030(+) CACAAA/CTTTGT 1 -- int10--------
rs1994762251,2
Cuntested156532110(+) ATGCTG/TTCTTC 1 -- int10--------
rs1994757721,2
Cuntested156538389(+) AAATGC/GAAACG 2 Q E mis10--------
rs1994757731,2
Cuntested156538671(+) GGCTGC/TTGTTC 2 L syn10--------
rs1994757801,2
Cuntested156545032(+) TGGCGC/TGTGAA 2 R C mis10--------
rs1994757811,2
Cuntested156549367(+) GGATTA/GCTTCA 1 -- int10--------
rs1994757861,2
Cuntested156565193(+) GCGCCC/TCTTTG 1 -- int10--------
rs1994757871,2
Cuntested156565204(+) CGGGCC/TGGGCT 1 -- int10--------

HapMap Linkage Disequilibrium report for NLRP5 (56511092 - 56573179 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for NLRP5:    About this table    
Variant IDTypeSubtypePubMed ID
esv2646225CNV Deletion19546169
esv2661813CNV Deletion23128226
nsv2557CNV Loss18451855
nsv833883CNV Loss17160897
dgv206n21CNV Loss19592680
nsv912507CNV Gain21882294
nsv912511CNV Gain21882294
nsv912510CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NLRP5
DNA2.0 Custom Variant and Variant Library Synthesis for NLRP5

(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: 609658    OMIM disorders: --

1 disease for NLRP5:    
About MalaCards
autoimmune polyendocrine syndrome type 1

2 diseases from the University of Copenhagen DISEASES database for NLRP5:
Autoimmune polyendocrine syndrome type 1     Hypoparathyroidism

Find genes that share disorders with NLRP5           About GenesLikeMe

Genetic Association Database (GAD): NLRP5
Human Genome Epidemiology (HuGE) Navigator: NLRP5 (4 documents)

Export disorders for NLRP5 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 NLRP5 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with NLRP5)
    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. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. (PubMed id 11925379)1, 2, 3 Tong Z.-B.... Nelson L.M. (Hum. Reprod. 2002)
  3. 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)
  4. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
  5. The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)1, 4 Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
  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. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
  8. Human MATER localization in specific cell domains of oocytes and follicular cells. (PubMed id 19192343)1 Sena P....De Pol A. (Reprod. Biomed. Online 2009)
  9. MATER protein as substrate of PKCepsilon in human cumulus cells. (PubMed id 19542546)1 Maraldi T....De Pol A. (Mol. Hum. Reprod. 2009)
  10. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (PubMed id 18322283)1 Alimohammadi M....KAompe O. (N. Engl. J. Med. 2008)

(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: 126206 HGNC: 21269 AceView: NALP5 Ensembl:ENSG00000171487 euGenes: HUgn126206
ECgene: NLRP5 H-InvDB: NLRP5

(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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PharmGKB entry for NLRP5 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 NLRP5 gene:
Search GeneIP for patents involving NLRP5

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, 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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