Format

Send to:

Choose Destination

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

Gene ID: 171389, updated on 17-Jun-2019

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
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

Genomic context

See NLRP6 in Genome Data Viewer
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (278365..285942)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (278570..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 cytochrome c oxidase subunit 8B, pseudogene Neighboring gene protein-glucosylgalactosylhydroxylysine glucosidase Neighboring gene interferon induced transmembrane protein 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
vasopressin receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of inflammatory response to antigenic stimulus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of toll-like receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of autophagy IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mucus secretion IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
inflammasome complex IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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
    5206..12024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276700.2NP_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, ENST00000534750.5
    Conserved Domains (4) summary
    cd00116
    Location:545871
    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:3199
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    sd00033
    Location:729756
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197350
    NACHT; NACHT domain
  2. NM_138329.2NP_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
    P59044
    Related
    ENSP00000309767.4, ENST00000312165.5
    Conserved Domains (4) summary
    cd00116
    Location:545872
    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:3199
    Pyrin_ASC-like; Pyrin Death Domain found in ASC
    sd00033
    Location:730757
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05729
    Location:197350
    NACHT; NACHT domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    278365..285942
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017253.2XP_016872742.1  NACHT, LRR and PYD domains-containing protein 6 isoform X1

RNA

  1. XR_002957127.1 RNA Sequence

  2. XR_930848.1 RNA Sequence

Support Center