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    NLRP6 NLR family pyrin domain containing 6 [ Homo sapiens (human) ]

    Gene ID: 171389, updated on 4-Jan-2025

    Summary

    Official Symbol
    NLRP6provided by HGNC
    Official Full Name
    NLR family pyrin domain containing 6provided by HGNC
    Primary source
    HGNC:HGNC:22944
    See related
    Ensembl:ENSG00000174885 MIM:609650; AllianceGenome:HGNC:22944
    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
    AVR; NAVR; PAN3; NALP6; PYPAF5; CLR11.4; NAVR/AVR
    Summary
    The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
    Expression
    Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 17.7) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NLRP6 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (278407..285388)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (319578..326561)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (278407..285388)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, non-ATPase 13 Neighboring gene signal recognition particle 19kDa pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:257568-258068 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2990 Neighboring gene cytochrome c oxidase subunit 8B, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:279707-280257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:283867-284636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:287773-288302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:288303-288832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2993 Neighboring gene protein-glucosylgalactosylhydroxylysine glucosidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4259 Neighboring gene interferon induced transmembrane protein 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (12 hits/1352 screens)

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables double-stranded RNA binding PubMed 
    enables lipopolysaccharide binding PubMed 
    enables lipoteichoic acid binding PubMed 
    enables molecular condensate scaffold activity PubMed 
    enables pattern recognition receptor activity PubMed 
    enables peptide binding  
    enables signaling adaptor activity PubMed 
    enables vasopressin receptor activity  
    enables vasopressin receptor activity  
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway  
    involved_in NLRP6 inflammasome complex assembly PubMed 
    involved_in acute inflammatory response  
    involved_in acute inflammatory response to antigenic stimulus  
    involved_in antiviral innate immune response PubMed 
    involved_in defense response to Gram-positive bacterium PubMed 
    involved_in defense response to virus PubMed 
    involved_in host-mediated regulation of intestinal microbiota composition  
    involved_in necroptotic process  
    involved_in negative regulation of ERK1 and ERK2 cascade  
    involved_in negative regulation of canonical NF-kappaB signal transduction  
    involved_in negative regulation of inflammatory response to antigenic stimulus  
    involved_in negative regulation of toll-like receptor signaling pathway  
    involved_in negative regulation of type II interferon production  
    involved_in neutrophil-mediated killing of gram-positive bacterium  
    involved_in positive regulation of inflammatory response PubMed 
    involved_in positive regulation of interleukin-18-mediated signaling pathway PubMed 
    involved_in protein homooligomerization PubMed 
    involved_in pyroptotic inflammatory response  
    involved_in regulation of autophagy  
    involved_in regulation of inflammatory response  
    involved_in regulation of inflammatory response  
    involved_in regulation of mucus secretion  
    involved_in wound healing  
    Component Evidence Code Pubs
    part_of NLRP6 inflammasome complex PubMed 
    part_of canonical inflammasome complex  
    is_active_in cytoplasm  
    is_active_in cytosol PubMed 
    is_active_in membraneless organelle PubMed 
    located_in nuclear membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    NACHT, LRR and PYD domains-containing protein 6
    Names
    NACHT, leucine rich repeat and PYD containing 6
    PYRIN-containing APAF1-like protein 5
    angiotensin II/vasopressin receptor
    nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_050573.1 RefSeqGene

      Range
      5043..12024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276700.2 → NP_001263629.1  NACHT, LRR and PYD domains-containing protein 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame exon at the 5' end of an exon compared to variant 1. The resulting isoform (2) lacks a single internal aa compared to isoform 1.
      Source sequence(s)
      AC136475, AF479748, AK292668, CD636365
      Consensus CDS
      CCDS60680.1
      UniProtKB/Swiss-Prot
      P59044
      Related
      ENSP00000433617.1, ENST00000534750.6
      Conserved Domains (6) summary
      cd08321
      Location:31 → 99
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      sd00033
      Location:729 → 756
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:197 → 350
      NACHT; NACHT domain
      pfam17776
      Location:501 → 636
      NLRC4_HD2; NLRC4 helical domain HD2
      pfam17779
      Location:442 → 497
      NOD2_WH; NOD2 winged helix domain
      cl42388
      Location:545 → 871
      PPP1R42; protein phosphatase 1 regulatory subunit 42
    2. NM_138329.2 → NP_612202.2  NACHT, LRR and PYD domains-containing protein 6 isoform 1

      See identical proteins and their annotated locations for NP_612202.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC136475, AF479748, CD636365
      Consensus CDS
      CCDS7693.1
      UniProtKB/Swiss-Prot
      A8K9F3, E9PJZ8, P59044
      Related
      ENSP00000309767.4, ENST00000312165.5
      Conserved Domains (4) summary
      cd00116
      Location:545 → 872
      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 ...
      cd08321
      Location:31 → 99
      Pyrin_ASC-like; Pyrin Death Domain found in ASC
      sd00033
      Location:730 → 757
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05729
      Location:197 → 350
      NACHT; NACHT domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      278407..285388
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_930848.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      319578..326561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367889.1 → XP_054223864.1  NACHT, LRR and PYD domains-containing protein 6 isoform X2

    2. XM_054367888.1 → XP_054223863.1  NACHT, LRR and PYD domains-containing protein 6 isoform X1

    RNA

    1. XR_008488352.1 RNA Sequence

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