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

Gene ID: 171389, updated on 14-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NLRP6 negatively regulates host defense against polymicrobial sepsis.
    Title: NLRP6 negatively regulates host defense against polymicrobial sepsis.
  2. Decreased expression of the NLRP6 inflammasome is associated with increased intestinal permeability and inflammation in obesity with type 2 diabetes.
    Title: Decreased expression of the NLRP6 inflammasome is associated with increased intestinal permeability and inflammation in obesity with type 2 diabetes.
  3. NLRP6 deficiency suppresses colorectal cancer liver metastasis growth by modulating M-MDSC-induced immunosuppressive microenvironment.
    Title: NLRP6 deficiency suppresses colorectal cancer liver metastasis growth by modulating M-MDSC-induced immunosuppressive microenvironment.
  4. NLRP6 potentiates PI3K/AKT signalling by promoting autophagic degradation of p85alpha to drive tumorigenesis.
    Title: NLRP6 potentiates PI3K/AKT signalling by promoting autophagic degradation of p85α to drive tumorigenesis.
  5. A novel pyroptosis risk model composed of NLRP6 effectively predicts the prognosis of hepatocellular carcinoma patients.
    Title: A novel pyroptosis risk model composed of NLRP6 effectively predicts the prognosis of hepatocellular carcinoma patients.
  6. NLRP3 and NLRP6 expression in pterygium and normal conjunctiva and their relationship with pterygium formation and recurrence.
    Title: NLRP3 and NLRP6 expression in pterygium and normal conjunctiva and their relationship with pterygium formation and recurrence.
  7. Physiological and pathophysiological functions of NLRP6: pro- and anti-inflammatory roles.
    Title: Physiological and pathophysiological functions of NLRP6: pro- and anti-inflammatory roles.
  8. Defects in NLRP6, autophagy and goblet cell homeostasis are associated with reduced duodenal CRH receptor 2 expression in patients with functional dyspepsia.
    Title: Defects in NLRP6, autophagy and goblet cell homeostasis are associated with reduced duodenal CRH receptor 2 expression in patients with functional dyspepsia.
  9. A detrimental role of NLRP6 in host iron metabolism during Salmonella infection.
    Title: A detrimental role of NLRP6 in host iron metabolism during Salmonella infection.
  10. Candida albicans SC5314 inhibits NLRP3/NLRP6 inflammasome expression and dampens human intestinal barrier activity in Caco-2 cell monolayer model.
    Title: Candida albicans SC5314 inhibits NLRP3/NLRP6 inflammasome expression and dampens human intestinal barrier activity in Caco-2 cell monolayer model.
Submit: New GeneRIF Correction See all GeneRIFs (33)

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59044.2 GenPept UniProtKB/Swiss-Prot:P59044

Gene LinkOut

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Chemical Information
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