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FLASH GENE

Symbol

NLRP6

contributors: mct/pgu - updated : 18-08-2012

HGNC name	NLR family, pyrin domain containing 6
HGNC id	22944

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	component of a cluster of PYPAF genes
STRUCTURE	6.82 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_138329 8 - 2763 98.8 892 - 2002 12387869

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune thymus         Reproductive male system testis       Respiratory respiratory tract trachea

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic neutrophil Homo sapiens Lymphoid/Immune T cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal PYN (Pyrin-PAAD-Dapin) domain
	a centrally located nucleotide-binding domain (NBS-NATCH subfamily)
	a stretch of C-terminally-located leucine rich repeats (five leucine rich repeats region)

HOMOLOGY

Homologene

FAMILY

nucleotide binding site (NB)/LRR family of proteins, caterpiller family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus
	intracellular,nuclear envelope

basic FUNCTION	may mediate activation of CASP1 via PYCARD and promote activation of NF-KB
	functioning in immune cells to coordinate the transduction of pro-inflammatory signals to the activation of NF-kappaB and pro-caspase-1
	implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection
	play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
	implicated in inflammasome signaling to activate caspase-1, which is essential for the production of mature ILB and IL18
	activity of NLRP6 in hematopoietic cells is critical for protection against inflammation-related colon tumorigenesis
	suppresses inflammation and carcinogenesis by regulating tissue repair
	involved in maintenance of the integrity of the epithelial barrier
	intracellular receptors, such as NLRP1, NLRP3, NLRP6 and NLRC4, which mediate the assembly of inflammasome complexes leading to the activation of procaspase-1
	is a negative regulator of inflammatory signaling, having a role in impeding clearance of both Gram-positive and –negative bacterial pathogens
	plays a critical role in regulating host and immune responses in cells of the myeloid lineage
	specifically suppresses TLR-induced NFKB1 and MAP-kinase activation during L. monocytogenes infection
	critical role for NLRP6 in dampening host responses against several bacterial pathogens

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

immunity/defense , inflammation

PATHWAY

metabolism

signaling

signal transduction

inflammasome pathway, including NLRP6, PYCARD, CASP1, and IL18

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein

recruited by PYCARD to distinct cytoplasmic loci and inducing NF-kappa B activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	NLRP6 expression and PYCARD methylation may represent unique molecular markers of carcinogenesis
Therapy target
	System Type Disorder Pubmed cancer digestive colon continuous stimulation of NLRP6 may represent a promising therapeutical strategy in Colorectal carcinoma immunology inflammatory   continuous stimulation of NLRP6 may represent a promising therapeutical strategy in inflammatory bowel diseases immunology infectious   therapeutic inhibition of NLRP6 activation may prove beneficial for treating infectious diseases

ANIMAL & CELL MODELS

	Nlrp6 inflammasome-deficient mice were characterized by spontaneous intestinal hyperplasia, inflammatory cell recruitment
	Nlrp6-deficient mice were highly resistant to infection with the bacterial pathogens Listeria monocytogenes, Salmonella typhimurium and Escherichia coli, and infected Nlrp6-deficient mice had increased numbers of monocytes and neutrophils in circulation