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Aliases for NLRP7 Gene

Aliases for NLRP7 Gene

  • NLR Family Pyrin Domain Containing 7 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 7 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 12 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 7 2 3
  • PYPAF3 3 4
  • NALP7 3 4
  • NOD12 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 7 3
  • NACHT, LRR And PYD Containing Protein 7 3
  • PYRIN-Containing Apaf1-Like Protein 3 3
  • PYRIN-Containing APAF1-Like Protein 3 4
  • CLR19.4 3
  • HYDM 3
  • PAN7 3

External Ids for NLRP7 Gene

Previous HGNC Symbols for NLRP7 Gene

  • NALP7

Previous GeneCards Identifiers for NLRP7 Gene

  • GC19M060127
  • GC19M055434
  • GC19M051757

Summaries for NLRP7 Gene

Entrez Gene Summary for NLRP7 Gene

  • This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for NLRP7 Gene

NLRP7 (NLR Family Pyrin Domain Containing 7) is a Protein Coding gene. Diseases associated with NLRP7 include Hydatidiform Mole, Recurrent, 1 and Gestational Trophoblastic Neoplasm. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Toll-Like receptor Signaling Pathways. An important paralog of this gene is NLRP2.

UniProtKB/Swiss-Prot for NLRP7 Gene

  • Inhibits CASP1/caspase-1-dependent IL1B secretion.

Gene Wiki entry for NLRP7 Gene

Additional gene information for NLRP7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NLRP7 Gene

Genomics for NLRP7 Gene

Regulatory Elements for NLRP7 Gene

Enhancers for NLRP7 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
GH19H055027 1.4 Ensembl ENCODE dbSUPER 11.6 -58.0 -58009 1.1 ATF1 PTBP1 ARNT ZBTB40 GATA2 EGR1 ATF7 ETV6 CREM SMARCA5 RDH13 ENSG00000267265 EPS8L1 ENSG00000243494 NLRP7 NLRP2 GP6
GH19H054873 1.2 FANTOM5 Ensembl ENCODE 11.2 +93.8 93782 5.2 GATA3 ZNF157 POLR2A SPI1 FCAR LILRA2 KIR2DS4 LILRA1 NLRP2 NLRP7 ENSG00000243494 KIR2DL3 EPS8L1 RDH13
GH19H055041 1.4 Ensembl ENCODE dbSUPER 8.9 -72.0 -71993 1.3 HDAC1 PKNOX1 ATF1 TBL1XR1 NFRKB TCF12 GATA2 EGR1 ETV6 ATF7 RDH13 NLRP7 NLRP2 GP6 ENSG00000267149
GH19H055005 1 ENCODE 11.8 -36.5 -36515 2.1 PKNOX1 ATF1 ARNT ETS1 ZNF766 ELK1 ZNF416 ATF7 RUNX3 SP3 RDH13 ENSG00000267265 NLRP2 PRPF31 ENSG00000243494 NLRP7 GP6 EPS8L1
GH19H054881 0.7 ENCODE 11 +88.5 88496 0.2 BCOR HDGF CTCF RB1 REST RAD21 CC2D1A KLF16 SMC3 NFE2 GP6 TNNT1 NLRP2 NLRP7 ENSG00000243494 RDH13 EPS8L1 KIR3DX1 ENSG00000268734 FCAR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NLRP7 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NLRP7 Gene

Genomic Locations for NLRP7 Gene
chr19:54,923,509-54,969,965
(GRCh38/hg38)
Size:
46,457 bases
Orientation:
Minus strand
chr19:55,434,877-55,477,680
(GRCh37/hg19)

Genomic View for NLRP7 Gene

Genes around NLRP7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP7 Gene

Proteins for NLRP7 Gene

  • Protein details for NLRP7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WX94-NALP7_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 7
    Protein Accession:
    Q8WX94
    Secondary Accessions:
    • E9PE16
    • Q32MH8
    • Q7RTR1

    Protein attributes for NLRP7 Gene

    Size:
    980 amino acids
    Molecular mass:
    111807 Da
    Quaternary structure:
    • Directly interacts with CASP1 and IL1B.

    Three dimensional structures from OCA and Proteopedia for NLRP7 Gene

    Alternative splice isoforms for NLRP7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP7 Gene

Post-translational modifications for NLRP7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NLRP7 Gene

Domains & Families for NLRP7 Gene

Gene Families for NLRP7 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NLRP7 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WX94

UniProtKB/Swiss-Prot:

NALP7_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP7: view

Function for NLRP7 Gene

Molecular function for NLRP7 Gene

UniProtKB/Swiss-Prot Function:
Inhibits CASP1/caspase-1-dependent IL1B secretion.
UniProtKB/Swiss-Prot Induction:
By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells.

Phenotypes From GWAS Catalog for NLRP7 Gene

Gene Ontology (GO) - Molecular Function for NLRP7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with NLRP7: view
genes like me logo Genes that share phenotypes with NLRP7: view

Human Phenotype Ontology for NLRP7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for NLRP7 Gene

miRTarBase miRNAs that target NLRP7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NLRP7 Gene

Localization for NLRP7 Gene

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 NLRP7 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NLRP7 Gene

Pathways & Interactions for NLRP7 Gene

genes like me logo Genes that share pathways with NLRP7: view

Pathways by source for NLRP7 Gene

1 BioSystems pathway for NLRP7 Gene
1 KEGG pathway for NLRP7 Gene
1 R&D Systems pathway for NLRP7 Gene

Interacting Proteins for NLRP7 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000467123%0d%0a9606.ENSP00000338157%0d%0a9606.ENSP00000360843%0d%0a
Selected Interacting proteins: ENSP00000467123 Q8WX94-NALP7_HUMAN for NLRP7 Gene via STRING IID

Gene Ontology (GO) - Biological Process for NLRP7 Gene

None

No data available for SIGNOR curated interactions for NLRP7 Gene

Drugs & Compounds for NLRP7 Gene

No Compound Related Data Available

Transcripts for NLRP7 Gene

Unigene Clusters for NLRP7 Gene

NLR family, pyrin domain containing 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1:
SP2: -
SP3: -
SP4: - -
SP5:
SP6: -

Relevant External Links for NLRP7 Gene

GeneLoc Exon Structure for
NLRP7
ECgene alternative splicing isoforms for
NLRP7

Expression for NLRP7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NLRP7 Gene

mRNA differential expression in normal tissues according to GTEx for NLRP7 Gene

This gene is overexpressed in Testis (x28.4), Whole Blood (x5.8), and Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for NLRP7 Gene

This gene is overexpressed in Lymph node (18.3), Cerebrospinal fluid (16.3), Plasma (14.0), and Platelet (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NLRP7 Gene



NURSA nuclear receptor signaling pathways regulating expression of NLRP7 Gene:

NLRP7

SOURCE GeneReport for Unigene cluster for NLRP7 Gene:

Hs.351118

mRNA Expression by UniProt/SwissProt for NLRP7 Gene:

Q8WX94-NALP7_HUMAN
Tissue specificity: Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle.

Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • reproductive
  • urinary
genes like me logo Genes that share expression patterns with NLRP7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for NLRP7 Gene

Orthologs for NLRP7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP7 33 34
  • 98.87 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 60 (a)
ManyToMany
-- 34
  • 57 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 52 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nlrp2 34
  • 40 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 28 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 29 (a)
OneToMany
Species where no ortholog for NLRP7 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)
  • rat (Rattus norvegicus)
  • 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 NLRP7 Gene

ENSEMBL:
Gene Tree for NLRP7 (if available)
TreeFam:
Gene Tree for NLRP7 (if available)

Paralogs for NLRP7 Gene

Pseudogenes.org Pseudogenes for NLRP7 Gene

genes like me logo Genes that share paralogs with NLRP7: view

Variants for NLRP7 Gene

Sequence variations from dbSNP and Humsavar for NLRP7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs104895502 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090], Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
rs104895503 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
rs104895506 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
rs104895525 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]
rs104895548 Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]

Structural Variations from Database of Genomic Variants (DGV) for NLRP7 Gene

Variant ID Type Subtype PubMed ID
nsv9766 CNV loss 18304495
nsv833880 CNV loss 17160897
nsv580339 CNV loss 21841781
nsv520644 CNV loss 19592680
nsv428372 CNV gain+loss 18775914
nsv1150276 OTHER inversion 26484159
nsv1127699 CNV deletion 24896259
nsv1123279 CNV deletion 24896259
nsv1079034 OTHER inversion 25765185
nsv1062047 CNV gain 25217958
nsv1056824 CNV gain 25217958
esv3893250 CNV loss 25118596
esv3583572 CNV loss 25503493
esv3583570 CNV loss 25503493
esv2758771 CNV gain+loss 17122850
esv2718872 CNV deletion 23290073
esv2667609 CNV deletion 23128226
dgv3679n100 CNV loss 25217958
dgv1819n106 OTHER inversion 24896259

Variation tolerance for NLRP7 Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NLRP7 Gene

Human Gene Mutation Database (HGMD)
NLRP7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP7 Gene

Disorders for NLRP7 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NLRP7 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hydatidiform mole, recurrent, 1
  • hydatidiform mole, recurrent, 2
gestational trophoblastic neoplasm
  • gestational trophoblastic neoplasia
partial hydatidiform mole
  • incomplete hydatidiform mole
recurrent hydatidiform mole
  • gestational trophoblastic disease
triploidy
  • chromosome triploidy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NLRP7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NALP7_HUMAN
  • Hydatidiform mole, recurrent, 1 (HYDM1) [MIM:231090]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269 PubMed:16462743, ECO:0000269 PubMed:19246479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NLRP7

Genetic Association Database (GAD)
NLRP7
Human Genome Epidemiology (HuGE) Navigator
NLRP7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NLRP7
genes like me logo Genes that share disorders with NLRP7: view

No data available for Genatlas for NLRP7 Gene

Publications for NLRP7 Gene

  1. PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion. (PMID: 15817483) Kinoshita T … Suda T (The Journal of biological chemistry 2005) 3 4 22 60
  2. NALPs: a novel protein family involved in inflammation. (PMID: 12563287) Tschopp J … Burns K (Nature reviews. Molecular cell biology 2003) 2 3 4 60
  3. PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PMID: 12019269) Wang L … Bertin J (The Journal of biological chemistry 2002) 2 3 4 60
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 45 60
  5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60

Products for NLRP7 Gene

Sources for NLRP7 Gene

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