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    NLRP11 NLR family pyrin domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 204801, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NLRP11provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:22945
    See related
    Ensembl:ENSG00000179873 MIM:609664; AllianceGenome:HGNC:22945
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOD17; PAN10; NALP11; PYPAF6; PYPAF7; CLR19.6
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See NLRP11 in Genome Data Viewer
    Location:
    19q13.42-q13.43
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55785399..55836575, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58884750..58935921, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (56296765..56347941, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ret finger protein like 4A like 1 Neighboring gene ret finger protein like 4A pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 15410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:56334044-56334598 Neighboring gene NLR family pyrin domain containing 4 Neighboring gene NLR family pyrin domain containing 13 Neighboring gene NLR family pyrin domain containing 8 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:56480507-56481706

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Adenosine-Induced NLRP11 in B Lymphoblasts Suppresses Human CD4(+) T Helper Cell Responses. Ozel I, et al. J Immunol Res, 2020. PMID 32832566, Free PMC Article
    2. The NLR family pyrin domain-containing 11 protein contributes to the regulation of inflammatory signaling. Ellwanger K, et al. J Biol Chem, 2018 Feb 23. PMID 29301940, Free PMC Article
    3. NLRP11 disrupts MAVS signalosome to inhibit type I interferon signaling and virus-induced apoptosis. Qin Y, et al. EMBO Rep, 2017 Dec. PMID 29097393, Free PMC Article
    4. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Dowds TA, et al. Biochem Biophys Res Commun, 2003 Mar 14. PMID 12615073
    5. Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. Grenier JM, et al. FEBS Lett, 2002 Oct 23. PMID 12387869

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NLRP11 is a pattern recognition receptor for bacterial lipopolysaccharide in the cytosol of human macrophages.
      Title: NLRP11 is a pattern recognition receptor for bacterial lipopolysaccharide in the cytosol of human macrophages.
    2. Adenosine-Induced NLRP11 in B Lymphoblasts Suppresses Human CD4(+) T Helper Cell Responses.
      Title: Adenosine-Induced NLRP11 in B Lymphoblasts Suppresses Human CD4(+) T Helper Cell Responses.
    3. Data suggest that NLRP11 plays novel role in myeloid cells and B-lymphocytes (where NLRP11 expression is high); expression of NLRP11 in both tumor and non-tumor cell lines down-regulates NFkappaB and interferon type I signaling responses.
      Title: The NLR family pyrin domain-containing 11 protein contributes to the regulation of inflammatory signaling.
    4. Using MAVS as a platform, NLRP11 degrades TRAF6 to attenuate the production of type I IFNs as well as virus-induced apoptosis. Our findings reveal the regulatory role of NLRP11 in antiviral immunity by disrupting MAVS signalosome.
      Title: NLRP11 disrupts MAVS signalosome to inhibit type I interferon signaling and virus-induced apoptosis.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: The genetics of NOD-like receptors in Crohn's disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study of early menopause and the combined impact of identified variants.
    EBI GWAS Catalog
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26273

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables 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
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NACHT, LRR and PYD domains-containing protein 11
    Names
    NACHT, leucine rich repeat and PYD containing 11
    PAAD- and NACHT-containing protein 10B
    PAAD-and NACHT domain-containing protein 10
    PYRIN-containing APAF1-like protein 6
    nucleotide-binding oligomerization domain protein 17
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054722.1 RefSeqGene

      Range
      9764..56364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001297743.3 → NP_001284672.1  NACHT, LRR and PYD domains-containing protein 11 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC008749, AC012310
      Consensus CDS
      CCDS74458.1
      UniProtKB/Swiss-Prot
      P59045
      Related
      ENSP00000468196.1, ENST00000592953.5
      Conserved Domains (4) summary
      cd00116
      Location:580 → 855
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:536 → 564
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:792 → 819
      LRR_AMN1; leucine-rich repeat [structural motif]
      cl21455
      Location:50 → 216
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001385451.2 → NP_001372380.1  NACHT, LRR and PYD domains-containing protein 11 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310
      Consensus CDS
      CCDS92693.1
      Related
      ENSP00000468082.1, ENST00000589824.6
      Conserved Domains (5) summary
      cd08320
      Location:11 → 91
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00034
      Location:666 → 693
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam17776
      Location:450 → 559
      NLRC4_HD2; NLRC4 helical domain HD2
      cl39015
      Location:625 → 900
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cl40481
      Location:149 → 315
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

    3. NM_001385453.2 → NP_001372382.1  NACHT, LRR and PYD domains-containing protein 11 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310
      Conserved Domains (5) summary
      cd08320
      Location:11 → 91
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:635 → 663
      LRR_RI; leucine-rich repeat [structural motif]
      pfam17776
      Location:450 → 559
      NLRC4_HD2; NLRC4 helical domain HD2
      cl39015
      Location:625 → 897
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cl40481
      Location:149 → 315
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

    4. NM_001394894.2 → NP_001381823.1  NACHT, LRR and PYD domains-containing protein 11 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310
      Consensus CDS
      CCDS12935.1
      UniProtKB/Swiss-Prot
      C9JSF5, P59045, Q2TV85, Q2TV86, Q53ZZ0, Q8NBF5
      Related
      ENSP00000466285.1, ENST00000589093.6
      Conserved Domains (6) summary
      cd08320
      Location:11 → 91
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:635 → 663
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:891 → 918
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam17776
      Location:450 → 559
      NLRC4_HD2; NLRC4 helical domain HD2
      cl39015
      Location:679 → 954
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cl40481
      Location:149 → 315
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

    5. NM_145007.5 → NP_659444.2  NACHT, LRR and PYD domains-containing protein 11 isoform 1

      See identical proteins and their annotated locations for NP_659444.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC008749, AC012310
      Consensus CDS
      CCDS12935.1
      UniProtKB/Swiss-Prot
      C9JSF5, P59045, Q2TV85, Q2TV86, Q53ZZ0, Q8NBF5
      Conserved Domains (6) summary
      cd08320
      Location:11 → 91
      Pyrin_NALPs; Pyrin death domain found in NALP proteins
      sd00033
      Location:635 → 663
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:891 → 918
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam17776
      Location:450 → 559
      NLRC4_HD2; NLRC4 helical domain HD2
      cl39015
      Location:679 → 954
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cl40481
      Location:149 → 315
      YlqF_related_GTPase; Circularly permuted YlqF-related GTPases

    RNA

    1. NR_169620.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310
      Related
      ENST00000590409.5

    2. NR_169621.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310

    3. NR_169622.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008749, AC012310

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55785399..55836575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58884750..58935921 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59045.2 GenPept UniProtKB/Swiss-Prot:P59045

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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