2. Gene
  3. NLRP6 - NLR family pyrin domain containing 6 Gene

NLRP6 - NLR family pyrin domain containing 6 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as AVR; NAVR; PAN3; NALP6; PYPAF5; CLR11.4; NAVR/AVR

Gene ID: 171389 | Gene type: protein coding

About NLRP6

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:278,407-285,388 (from NCBI)

This gene has 3 transcripts (splice variants), 67 orthologues and 20 paralogues. Biased expression in duodenum (RPKM 17.8), small intestine (RPKM 17.7) and 3 other tissues.

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]

NLRP6 Products(2)

mRNA Protein Name
NM_001276700.2 NP_001263629.1 NACHT, LRR and PYD domains-containing protein 6 isoform 2
NM_138329.2 NP_612202.2 NACHT, LRR and PYD domains-containing protein 6 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables double-stranded RNA binding IDA
IDA: Inferred from direct assay
34678144 GOA
enables lipopolysaccharide binding IDA
IDA: Inferred from direct assay
31932628 GOA
enables lipoteichoic acid binding IDA
IDA: Inferred from direct assay
30392956 GOA
enables molecular condensate scaffold activity IDA
IDA: Inferred from direct assay
34678144 GOA
enables pattern recognition receptor activity IDA
IDA: Inferred from direct assay
31932628 GOA
enables signaling adaptor activity IDA
IDA: Inferred from direct assay
34678144 GOA
Biological Process GO Annotation Evidence Reference Source
involved in NLRP6 inflammasome complex assembly IDA
IDA: Inferred from direct assay
30674671 GOA
involved in antiviral innate immune response IDA
IDA: Inferred from direct assay
34161762 GOA
involved in defense response to Gram-positive bacterium IDA
IDA: Inferred from direct assay
33377178 GOA
involved in defense response to virus IDA
IDA: Inferred from direct assay
34161762 GOA
involved in positive regulation of inflammatory response IDA
IDA: Inferred from direct assay
33377178 GOA
involved in positive regulation of interleukin-18-mediated signaling pathway IDA
IDA: Inferred from direct assay
33377178 GOA
involved in protein homooligomerization IDA
IDA: Inferred from direct assay
30674671 GOA
Cellular Component GO Annotation Evidence Reference Source
part of NLRP6 inflammasome complex IDA
IDA: Inferred from direct assay
30674671 GOA
is active in cytosol IDA
IDA: Inferred from direct assay
31932628 GOA
is active in non-membrane-bounded organelle IDA
IDA: Inferred from direct assay
34678144 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NLRP6 Protein Structure

PYRIN

PYRIN: PAAD/DAPIN/Pyrin domain (19 - 99)

NACHT

NACHT: NACHT domain (197 - 365)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 892 a.a.
Protein Preferred Names Protein Names

NACHT, LRR and PYD domains-containing protein 6

NACHT, leucine rich repeat and PYD containing 6

Related Diseases

Diseases Alias
Chemical Colitis
Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity
Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes
Salmonellosis

Salmonella Infections

Salmonella Infection
Colonic Benign Neoplasm

Colon Neoplasm

Colonic Mass

Colonic Tumor

Neoplasm Of Colon

Neoplasm Of The Colon

Colonic Neoplasms

Colon Cancer

Colon Carcinoma Nos

Colonic Cancer

Metastatic Colon Cancer Nos
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09362 NLRP6 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta NLRP6 VGNC VGNC:75234
Mus musculus NLRP6 MGD MGI:2141990
Rattus norvegicus NLRP6 RGD RGD:708549
Bos taurus NLRP6 VGNC VGNC:32119
Canis familiaris NLRP6 VGNC VGNC:43850
Felis catus NLRP6 VGNC VGNC:81969
Others NLRP6 NCBI