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Aliases for NLRP5 Gene

Aliases for NLRP5 Gene

  • NLR Family Pyrin Domain Containing 5 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 5 2 3
  • NACHT, Leucine Rich Repeat And PYD Containing 5 2 3
  • Maternal Antigen That Embryos Require 2 3
  • Mater Protein Homolog 3 4
  • NALP5 3 4
  • MATER 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 5 3
  • CLR19.8 3
  • PYPAF8 3
  • PAN11 3

External Ids for NLRP5 Gene

Previous HGNC Symbols for NLRP5 Gene

  • NALP5

Previous GeneCards Identifiers for NLRP5 Gene

  • GC19P061203
  • GC19P056511
  • GC19P052821

Summaries for NLRP5 Gene

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 and Autoimmune Polyendocrinopathy Syndrome , Type I, With Or Without Reversible Metaphyseal Dysplasia. An important paralog of this gene is NLRP14.

UniProtKB/Swiss-Prot for NLRP5 Gene

  • As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.

Gene Wiki entry for NLRP5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP5 Gene

Genomics for NLRP5 Gene

Regulatory Elements for NLRP5 Gene

Enhancers for NLRP5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F056293 0.8 FANTOM5 ENCODE 4.6 +308.5 308516 2.7 ZNF316 MAFK ZBTB40 NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 LOC105372470 ENSG00000267298
GH19F056089 1.4 FANTOM5 Ensembl ENCODE 2.3 +104.8 104808 3.4 CBX3 PKNOX1 JUN KLF17 MAX SIN3A FEZF1 BRCA1 RFX5 GATA3 NLRP5 NLRP11 ZSCAN5A NLRP8 ENSG00000223060 LINC01864
GH19F056287 0.3 FANTOM5 3.3 +300.8 300779 0.2 ZSCAN5A NLRP5 NLRP8 NLRP11 ZNF583 LOC105372470 ENSG00000267298
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NLRP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for NLRP5 Gene

Chromosome:
19
Start:
55,986,783 bp from pter
End:
56,061,813 bp from pter
Size:
75,031 bases
Orientation:
Plus strand

Genomic View for NLRP5 Gene

Genes around NLRP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP5 Gene

Proteins for NLRP5 Gene

  • Protein details for NLRP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59047-NALP5_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 5
    Protein Accession:
    P59047
    Secondary Accessions:
    • A8MTY4
    • Q86W29

    Protein attributes for NLRP5 Gene

    Size:
    1200 amino acids
    Molecular mass:
    134342 Da
    Quaternary structure:
    • Component of the SCMC which also includes at least OOEP and TLE6.

neXtProt entry for NLRP5 Gene

Post-translational modifications for NLRP5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NLRP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NLRP5 Gene

Domains & Families for NLRP5 Gene

Gene Families for NLRP5 Gene

Suggested Antigen Peptide Sequences for NLRP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P59047

UniProtKB/Swiss-Prot:

NALP5_HUMAN :
  • Contains 1 NACHT domain.
  • Belongs to the NLRP family.
  • Contains 13 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 NACHT domain.
  • Contains 1 pyrin domain.
Family:
  • Belongs to the NLRP family.
Similarity:
  • Contains 13 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with NLRP5: view

Function for NLRP5 Gene

Molecular function for NLRP5 Gene

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

Gene Ontology (GO) - Molecular Function for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP5: view
genes like me logo Genes that share phenotypes with NLRP5: view

Animal Models for NLRP5 Gene

MGI Knock Outs for NLRP5:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NLRP5 Gene

Localization for NLRP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NLRP5 Gene

Mitochondrion. Nucleus, nucleolus. Cytoplasm. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NLRP5 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4
extracellular 1

Gene Ontology (GO) - Cellular Components for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus ISS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with NLRP5: view

Pathways & Interactions for NLRP5 Gene

SuperPathways for NLRP5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007566 embryo implantation IEA --
GO:0009566 fertilization IEA --
GO:0009887 animal organ morphogenesis IEA --
GO:0031647 regulation of protein stability IEA --
genes like me logo Genes that share ontologies with NLRP5: view

No data available for Pathways by source and SIGNOR curated interactions for NLRP5 Gene

Transcripts for NLRP5 Gene

mRNA/cDNA for NLRP5 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NLRP5 Gene

NLR family, pyrin domain containing 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP5 Gene

No ASD Table

Relevant External Links for NLRP5 Gene

GeneLoc Exon Structure for
NLRP5
ECgene alternative splicing isoforms for
NLRP5

Expression for NLRP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP5 Gene

This gene is overexpressed in Ovary (x36.4) and Testis (x9.6).

Protein differential expression in normal tissues from HIPED for NLRP5 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NLRP5 Gene



Protein tissue co-expression partners for NLRP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of NLRP5 Gene:

NLRP5

SOURCE GeneReport for Unigene cluster for NLRP5 Gene:

Hs.356872

mRNA Expression by UniProt/SwissProt for NLRP5 Gene:

P59047-NALP5_HUMAN
Tissue specificity: Oocyte-specific.
genes like me logo Genes that share expression patterns with NLRP5: view

Primer Products

Orthologs for NLRP5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP5 34 35
  • 97.88 (n)
dog
(Canis familiaris)
Mammalia NLRP5 34 35
  • 75.89 (n)
cow
(Bos Taurus)
Mammalia NLRP5 34 35
  • 69.19 (n)
mouse
(Mus musculus)
Mammalia Nlrp5 34 16 35
  • 66.03 (n)
rat
(Rattus norvegicus)
Mammalia Nlrp5 34
  • 65.6 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 27 (a)
OneToMany
Species where no ortholog for NLRP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NLRP5 Gene

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

Paralogs for NLRP5 Gene

(11) SIMAP similar genes for NLRP5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NLRP5: view

Variants for NLRP5 Gene

Sequence variations from dbSNP and Humsavar for NLRP5 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs200446614 Uncertain significance 56,032,687(+) TGCGG(C/T)AGCTG reference, stop-gained
rs202181446 Uncertain significance 56,040,975(+) AGCCC(C/T)CGTCA reference, missense
rs199475757 untested 55,999,321(+) GTGAT(A/T)CTTCT upstream-variant-2KB
rs199475758 untested 55,999,329(+) TCTGC(C/T)TCAGC upstream-variant-2KB
rs199475759 untested 55,999,476(+) AGTAG(C/T)GTCGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NLRP5 Gene

Variant ID Type Subtype PubMed ID
nsv475006 CNV novel sequence insertion 20440878
nsv580353 CNV loss 21841781
nsv580354 CNV gain 21841781
nsv833883 CNV loss 17160897
nsv2557 CNV deletion 18451855
nsv1109221 CNV deletion 24896259
nsv1057820 CNV gain 25217958
esv3644854 CNV loss 21293372
esv3644851 CNV gain 21293372
esv3583586 CNV loss 25503493
esv3583585 CNV loss 25503493
esv2661813 CNV deletion 23128226
esv2646225 CNV deletion 19546169
dgv6582n54 CNV gain 21841781
dgv3681n100 CNV gain 25217958
dgv3680n100 CNV gain 25217958
dgv206n21 CNV loss 19592680

Variation tolerance for NLRP5 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.39; 90.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NLRP5 Gene

Human Gene Mutation Database (HGMD)
NLRP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP5 Gene

Disorders for NLRP5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NLRP5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia
  • autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search NLRP5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NLRP5

Genetic Association Database (GAD)
NLRP5
Human Genome Epidemiology (HuGE) Navigator
NLRP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP5
genes like me logo Genes that share disorders with NLRP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP5 Gene

Publications for NLRP5 Gene

  1. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J. … Burns K. (Nat. Rev. Mol. Cell Biol. 2003) 2 3 4 64
  2. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. (PMID: 11925379) Tong Z.-B. … Nelson L.M. (Hum. Reprod. 2002) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings J.R. … Jewell D.P. (Tissue Antigens 2010) 3 46 64
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64

Products for NLRP5 Gene

Sources for NLRP5 Gene

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