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

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: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (278407..285388)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (319578..326561)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (278407..285388)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Physiological and pathophysiological functions of NLRP6: pro- and anti-inflammatory roles.
Title: Physiological and pathophysiological functions of NLRP6: pro- and anti-inflammatory roles.
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.
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.
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.
NLRP6-caspase 4 inflammasome activation in response to cariogenic bacterial lipoteichoic acid in human dental pulp inflammation.
Title: NLRP6-caspase 4 inflammasome activation in response to cariogenic bacterial lipoteichoic acid in human dental pulp inflammation.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 pyroptosis	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 response to bacterium	IBA Inferred from Biological aspect of Ancestor 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 non-membrane-bounded 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

NG_050573.1 RefSeqGene

Range

5043..12024

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

278407..285388

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GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_930848.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

319578..326561

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367889.1 → XP_054223864.1 NACHT, LRR and PYD domains-containing protein 6 isoform X2
XM_054367888.1 → XP_054223863.1 NACHT, LRR and PYD domains-containing protein 6 isoform X1