This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other mem... See more...

Aliases for NLRP11 Gene

Aliases for NLRP11 Gene

  • NLR Family Pyrin Domain Containing 11 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 11 2 3
  • Nucleotide-Binding Oligomerization Domain Protein 17 3 4
  • NACHT, LRR And PYD Domains-Containing Protein 11 3 4
  • NACHT, Leucine Rich Repeat And PYD Containing 11 2 3
  • PAAD-And NACHT Domain-Containing Protein 10 3 4
  • PYRIN-Containing APAF1-Like Protein 6 3 4
  • NALP11 3 4
  • PYPAF6 3 4
  • NOD17 3 4
  • PAN10 3 4
  • PAAD- And NACHT-Containing Protein 10B 3
  • CLR19.6 3
  • PYPAF7 3

External Ids for NLRP11 Gene

Previous HGNC Symbols for NLRP11 Gene

  • NALP11

Previous GeneCards Identifiers for NLRP11 Gene

  • GC19M060989
  • GC19M056298
  • GC19M052608

Summaries for NLRP11 Gene

Entrez Gene Summary for NLRP11 Gene

  • This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and a C-terminal leucine-rich repeats (LRR) region. This gene has been shown to regulate caspases in the proinflammatory signal transduction pathway and, based on studies of other members of the NLRP gene family with similar domain structure, is predicted to form part of the multiprotein inflammasome complex. Alternative splicing produces multiple transcript variants encoding distince isoforms. [provided by RefSeq, May 2017]

GeneCards Summary for NLRP11 Gene

NLRP11 (NLR Family Pyrin Domain Containing 11) is a Protein Coding gene. Diseases associated with NLRP11 include Nemaline Myopathy 5. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot Summary for NLRP11 Gene

Gene Wiki entry for NLRP11 Gene

Additional gene information for NLRP11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NLRP11 Gene

Genomics for NLRP11 Gene

GeneHancer (GH) Regulatory Elements for NLRP11 Gene

Promoters and enhancers for NLRP11 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
GH19J055836 Promoter 0.7 EPDnew 500.7 +0.3 279 0.1 ZNF316 MAX NFE2 E2F6 MAFF L3MBTL2 ATF3 PKNOX1 JUND TRIP13 NLRP11 NLRP4 ZSCAN5A
GH19J055837 Promoter/Enhancer 0.7 EPDnew dbSUPER 500.7 0.0 -20 0.1 L3MBTL2 ATF3 MGA NLRP11 NLRP4 piR-43107-145
GH19J055831 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.7 +4.8 4795 0.1 NLRP11 NLRP4 piR-39858-326
GH19J055466 Enhancer 1.4 FANTOM5 Ensembl ENCODE 5.8 +369.9 369900 3.4 CTCF NCOR1 PHB2 ZBTB10 ZBTB11 TARDBP REST KLF4 HES1 KLF7 ENSG00000279063 SBK3 NLRP11 NLRP8 NLRP9 C19orf85 lnc-C19orf85-1
GH19J056293 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 2.8 -458.5 -458499 2.7 ZBTB40 ZNF316 NFIC MAFF MAFK NFIB ZFP36 NLRP5 ZSCAN5A NLRP11 NLRP8 ZNF583 NLRP13 RF00017-3086 LOC105372470 lnc-ZNF582-5 lnc-EDDM13-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NLRP11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NLRP11

Top Transcription factor binding sites by QIAGEN in the NLRP11 gene promoter:
  • AML1a
  • AREB6
  • CBF(2)
  • CBF-A
  • CBF-B
  • E47
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for NLRP11 Gene

Genomic Locations for NLRP11 Gene
chr19:55,785,397-55,836,800
(GRCh38/hg38)
Size:
51,404 bases
Orientation:
Minus strand
chr19:56,296,763-56,348,166
(GRCh37/hg19)
Size:
51,404 bases
Orientation:
Minus strand

Genomic View for NLRP11 Gene

Genes around NLRP11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NLRP11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NLRP11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NLRP11 Gene

Proteins for NLRP11 Gene

  • Protein details for NLRP11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59045-NAL11_HUMAN
    Recommended name:
    NACHT, LRR and PYD domains-containing protein 11
    Protein Accession:
    P59045
    Secondary Accessions:
    • C9JSF5
    • Q2TV85
    • Q2TV86
    • Q53ZZ0
    • Q8NBF5

    Protein attributes for NLRP11 Gene

    Size:
    1033 amino acids
    Molecular mass:
    117779 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03490.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NLRP11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NLRP11 Gene

Post-translational modifications for NLRP11 Gene

  • Ubiquitination at Lys917
  • Modification sites at PhosphoSitePlus

Other Protein References for NLRP11 Gene

No data available for DME Specific Peptides for NLRP11 Gene

Domains & Families for NLRP11 Gene

Gene Families for NLRP11 Gene

Protein Domains for NLRP11 Gene

Blocks:
  • Leucine-rich repeat signature
  • Pyrin domain
  • Ribosomal protein S14
  • Leucine-rich repeat, ribonuclease inhibitor subtype
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NLRP11 Gene

GenScript: Design optimal peptide antigens:
  • PYRIN-containing APAF1-like protein 6 (NAL11_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P59045

UniProtKB/Swiss-Prot:

NAL11_HUMAN :
  • Belongs to the NLRP family.
Family:
  • Belongs to the NLRP family.
genes like me logo Genes that share domains with NLRP11: view

Function for NLRP11 Gene

Molecular function for NLRP11 Gene

UniProtKB/Swiss-Prot Function:
Involved in inflammation.

Phenotypes From GWAS Catalog for NLRP11 Gene

Gene Ontology (GO) - Molecular Function for NLRP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IEA --
GO:0005524 ATP binding IEA --
GO:0016715 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen IEA --
genes like me logo Genes that share ontologies with NLRP11: view

Phenotypes for NLRP11 Gene

genes like me logo Genes that share phenotypes with NLRP11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP11

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NLRP11 Gene

Localization for NLRP11 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 NLRP11 gene
Compartment Confidence
plasma membrane 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NLRP11 Gene

Pathways & Interactions for NLRP11 Gene

PathCards logo

SuperPathways for NLRP11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NLRP11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NLRP11: view

No data available for Pathways by source and SIGNOR curated interactions for NLRP11 Gene

Drugs & Compounds for NLRP11 Gene

No Compound Related Data Available

Transcripts for NLRP11 Gene

mRNA/cDNA for NLRP11 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NLRP11

Alternative Splicing Database (ASD) splice patterns (SP) for NLRP11 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: -

Relevant External Links for NLRP11 Gene

GeneLoc Exon Structure for
NLRP11

Expression for NLRP11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NLRP11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NLRP11 Gene

This gene is overexpressed in Testis (x22.2), Liver (x8.9), and Ovary (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NLRP11

SOURCE GeneReport for Unigene cluster for NLRP11 Gene:

Hs.375039
genes like me logo Genes that share expression patterns with NLRP11: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NLRP11 Gene

Orthologs for NLRP11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NLRP11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NLRP11 31 30
  • 99.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 26 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
OneToMany
Species where no ortholog for NLRP11 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • 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 NLRP11 Gene

ENSEMBL:
Gene Tree for NLRP11 (if available)
TreeFam:
Gene Tree for NLRP11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NLRP11: view image

Paralogs for NLRP11 Gene

(6) SIMAP similar genes for NLRP11 Gene using alignment to 4 proteins:

  • NAL11_HUMAN
  • K7EMN8_HUMAN
  • K7EQV0_HUMAN
  • K7ESF9_HUMAN
genes like me logo Genes that share paralogs with NLRP11: view

Variants for NLRP11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NLRP11 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs199475739 Not Provided: not provided 55,836,456(-) C/T FIVE_PRIME_UTR_VARIANT
rs199475740 Not Provided: not provided 55,836,542(-) G/A FIVE_PRIME_UTR_VARIANT
rs199475741 Not Provided: not provided 55,836,725(-) T/G FIVE_PRIME_UTR_VARIANT
rs199475857 Not Provided: not provided 55,832,965(-) T/C INTRON_VARIANT
rs199475858 Not Provided: not provided 55,832,101(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NLRP11 Gene

Structural Variations from Database of Genomic Variants (DGV) for NLRP11 Gene

Variant ID Type Subtype PubMed ID
dgv6582n54 CNV gain 21841781
esv2586154 CNV deletion 19546169
esv2660360 CNV deletion 23128226
esv2718989 CNV deletion 23290073
esv2758773 CNV gain 17122850
esv3575075 CNV gain 25503493
esv3644847 CNV loss 21293372
esv3644848 CNV loss 21293372
esv3644849 CNV gain 21293372
esv3893253 CNV loss 25118596
nsv1057383 CNV gain 25217958
nsv1058122 CNV gain 25217958
nsv1060269 CNV gain 25217958
nsv1060544 CNV gain 25217958
nsv1064105 CNV gain 25217958
nsv1066324 CNV gain+loss 25217958
nsv1115552 CNV duplication 24896259
nsv1150950 CNV duplication 26484159
nsv2556 CNV insertion 18451855
nsv509753 CNV insertion 20534489
nsv510927 OTHER complex 20534489
nsv525923 CNV loss 19592680
nsv526248 CNV loss 19592680
nsv580346 CNV gain 21841781
nsv833882 CNV loss 17160897

Variation tolerance for NLRP11 Gene

Residual Variation Intolerance Score: 39.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NLRP11 Gene

Human Gene Mutation Database (HGMD)
NLRP11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NLRP11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NLRP11 Gene

Disorders for NLRP11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NLRP11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
nemaline myopathy 5
  • nem5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NLRP11

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 NLRP11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NLRP11 Gene

Publications for NLRP11 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 54
  2. 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 54
  3. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. (PMID: 22267201) Stolk L … Lunetta KL (Nature genetics 2012) 3 41 54
  4. The genetics of NOD-like receptors in Crohn's disease. (PMID: 20403135) Cummings JR … Jewell DP (Tissue antigens 2010) 3 41 54
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 41 54

Products for NLRP11 Gene

Sources for NLRP11 Gene