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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 Type 1 and Oculoectodermal Syndrome. Among its related pathways are Preimplantation Embryo. 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

Additional gene information for NLRP5 Gene

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

Genomics for NLRP5 Gene

GeneHancer (GH) Regulatory Elements for NLRP5 Gene

Promoters and enhancers for NLRP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J055999 Promoter 0.5 EPDnew 650.4 +13.0 12953 0.1 NLRP5 GC19P056014
GH19J056293 Enhancer 0.8 FANTOM5 ENCODE 4.6 +308.5 308516 2.7 NFIC ZNF316 NFIB ZFP36 ZBTB40 MAFK NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 LOC105372470 ENSG00000267298 GC19P056275 EDDM13
GH19J056089 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2.3 +104.8 104808 3.4 PKNOX1 NFIB KLF17 SIN3A FEZF1 IRF4 BRCA1 RFX5 RCOR1 FOS NLRP5 NLRP11 ZSCAN5A NLRP8 ENSG00000223060 LINC01864 ZNF787 GC19P056014
GH19J056287 Enhancer 0.3 FANTOM5 3.4 +300.8 300779 0.2 NR2C1 ZSCAN5A NLRP5 NLRP8 NLRP11 ZNF583 LOC105372470 GC19P056275 EDDM13 ENSG00000267298
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NLRP5 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for NLRP5 Gene

Genomic Locations for NLRP5 Gene
chr19:55,986,783-56,061,813
(GRCh38/hg38)
Size:
75,031 bases
Orientation:
Plus strand
chr19:56,511,092-56,573,179
(GRCh37/hg19)
Size:
62,088 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 :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
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.

Phenotypes From GWAS Catalog for NLRP5 Gene

Gene Ontology (GO) - Molecular Function for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP5

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 3
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 COLOCALIZES_WITH cytoplasm IBA,IEA --
GO:0005739 mitochondrion ISS --
genes like me logo Genes that share ontologies with NLRP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NLRP5 Gene

Pathways & Interactions for NLRP5 Gene

SuperPathways for NLRP5 Gene

SuperPathway Contained pathways
1 Preimplantation Embryo
genes like me logo Genes that share pathways with NLRP5: view

Pathways by source for NLRP5 Gene

1 BioSystems pathway for NLRP5 Gene

Gene Ontology (GO) - Biological Process for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001817 regulation of cytokine production IBA --
GO:0006954 inflammatory response IBA --
GO:0010468 regulation of gene expression IBA --
GO:0023052 signaling IBA --
GO:0032088 negative regulation of NF-kappaB transcription factor activity IBA --
genes like me logo Genes that share ontologies with NLRP5: view

No data available for SIGNOR curated interactions for NLRP5 Gene

Drugs & Compounds for NLRP5 Gene

No Compound Related Data Available

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP5

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 CGAP 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 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

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP5 Gene

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 33
  • 97.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP5 34 33
  • 75.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NLRP5 34 33
  • 69.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp5 16 34 33
  • 66.03 (n)
rat
(Rattus norvegicus)
Mammalia Nlrp5 33
  • 65.6 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP5: view image

Paralogs for NLRP5 Gene

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

  • NALP5_HUMAN
  • M0R0W4_HUMAN
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 Variation AA Info Type
rs200446614 uncertain-significance, Oculoectodermal syndrome 56,032,687(+) C/T coding_sequence_variant, stop_gained
rs202181446 uncertain-significance, Oculoectodermal syndrome 56,040,975(+) T/C coding_sequence_variant, missense_variant
rs199475757 not-provided, not provided 55,999,321(+) T/A upstream_transcript_variant
rs199475758 not-provided, not provided 55,999,329(+) C/T upstream_transcript_variant
rs199475759 not-provided, not provided 55,999,476(+) C/T upstream_transcript_variant

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

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

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)

Additional Variant Information for NLRP5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NLRP5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NLRP5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
oculoectodermal syndrome
  • oes
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
gestational trophoblastic neoplasm
  • gestational trophoblastic neoplasia
- elite association - COSMIC cancer census association via MalaCards
Search NLRP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NLRP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature reviews. Molecular cell biology 2003) 2 3 4 58
  2. A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development. (PMID: 11925379) Tong ZB … Nelson LM (Human reproduction (Oxford, England) 2002) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 44 58
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58

Products for NLRP5 Gene

Sources for NLRP5 Gene

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