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Aliases for NLRP5 Gene

Aliases for NLRP5 Gene

  • NLR Family, Pyrin Domain Containing 5 2 3 5
  • 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
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 5 3
  • Leucine Rich Repeat And Pyrin Domain Containing 5 2
  • Nucleotide-Binding Oligomerization Domain 2
  • 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 polyendocrine syndrome type 1. An important paralog of this gene is NLRP7.

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

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

Proteomics data for NLRP5 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with NLRP5: view

Animal Models for NLRP5 Gene

MGI Knock Outs for NLRP5:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NLRP5 Gene COMPARTMENTS Subcellular localization image for NLRP5 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 4
extracellular 1

Gene Ontology (GO) - Cellular Components for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA,ISS --
GO:0045179 apical cortex IEA --
genes like me logo Genes that share ontologies with NLRP5: view

Pathways & Interactions for NLRP5 Gene

SuperPathways for NLRP5 Gene

No Data Available

Interacting Proteins for NLRP5 Gene

Gene Ontology (GO) - Biological Process for NLRP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0031647 regulation of protein stability IEA --
GO:0043487 regulation of RNA 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

Drugs & Compounds for NLRP5 Gene

No Compound Related Data Available

Transcripts for NLRP5 Gene

mRNA/cDNA for NLRP5 Gene

(2) 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:

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 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



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

Protein tissue co-expression partners for NLRP5 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia NLRP5 35
  • 69.19 (n)
  • 56.53 (a)
NLRP5 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NLRP5 35
  • 75.89 (n)
  • 65.48 (a)
NLRP5 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nlrp5 35
  • 66.03 (n)
  • 53.47 (a)
Nlrp5 16
Nlrp5 36
  • 51 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NLRP5 35
  • 97.88 (n)
  • 96.95 (a)
NLRP5 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nlrp5 35
  • 65.6 (n)
  • 54.67 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
OneToMany
Species with no ortholog for NLRP5:
  • 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
rs471979 - 56,027,610(+) ATCAT(C/G)AACAA reference, missense
rs34395092 - 56,027,984(+) CTTCC(A/C)CCTCA reference, missense
rs17713875 - 56,032,616(+) GATGC(A/G/T)GGATA reference, missense
rs16986899 - 56,038,144(+) AGTAA(C/T)GCCTC reference, missense
rs3103057 - 56,053,798(+) TTCTG(A/G)CGAGA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv912507 CNV Gain 21882294
nsv912510 CNV Gain 21882294
nsv833883 CNV Loss 17160897
esv2646225 CNV Deletion 19546169
esv2661813 CNV Deletion 23128226
nsv912511 CNV Gain 21882294
nsv2557 CNV Loss 18451855
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

HapMap Linkage Disequilibrium report
NLRP5
Human Gene Mutation Database (HGMD)
NLRP5

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autoimmune polyendocrine syndrome
  • autoimmune polyendocrinopathy
autoimmune polyendocrine syndrome type 1
  • autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
gestational trophoblastic neoplasm
  • hydatidiform mole, recurrent, 1
trophoblastic neoplasm
  • trophoblastic neoplasm nos
- 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 67
  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
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. (PMID: 22166940) Rovelet-Lecrux A. … Campion D. (Eur. J. Hum. Genet. 2012) 3
  5. 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

Products for NLRP5 Gene

Sources for NLRP5 Gene

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