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FLASH GENE

Symbol

NLRP12

contributors: mct - updated : 29-05-2018

HGNC name	NLR family, pyrin domain containing 12
HGNC id	22938

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

constitutive of

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 spleen         Reproductive male system prostate

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic eosinophil Blood/Hematopoietic granulocyte Blood/Hematopoietic monocyte

cell lineage
cell lines	lymphoma
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal PYN (Pyrin-PAAD-Dapin) domain
	a nucleotide binding site (NBS-NACHT subfamily)
	eight leucine rich repeats (LRR)
	Walker A/B motifs required to undergo self-oligomerization, Toll-like receptor- or CD40L-activated association with NF-kappaB-inducing kinase (NIK) and interleukin-1 receptor-associated kinase 1 (IRAK-1), degradation of NIK, and inhibition of IRAK-1 phosphorylation (Ye 2008)

HOMOLOGY

Homologene

FAMILY

nucleotide binding site (NB)/LRR family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	enhancing nonclassical and classical major
	histocompatibility complex class I expression at the level of the promoter, RNA, and protein expression
	playing a crucial role in inflammatory signaling pathways
	participating in inflammatory signaling by regulating the activation of NF-kappa B and cytokine processing
	may mediate activation of CASP1 via PYCARD and promote activation of NF-kappa-B via IKK
	antagonizing inflammatory responses initiated by Toll-like receptor agonists via interference with IRAK-1 activation
	implicated in the activation of caspase-1 by the Toll-like receptors (TLRs) during the cells response to microbial infection (Tschopp 2003)
	NLR protein that negatively regulates NF-kappaB signaling, specifically binds ATP and exhibits ATP hydrolysis activity (Ye 2010)
	play important roles in both mammalian innate immune system and reproductive system (Tian 2009)
	NLRP12, through its binding to HCK, may have an effect on the pathogenesis of acute myeloid leukemia (AML)

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	recruited by PYCARD to distinct cytoplasmic loci and inducing NF-kappa B activation, with its dapin domain
	C-terminal 40 amino acids of HCK selectively bound to NLRP12 PYD + NBD

cell & other

REGULATION

Other

regulated by ATP binding (ATP binding regulates the anti-inflammatory activity) (Ye 2008)

ASSOCIATED DISORDERS

corresponding disease(s)

FACS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   mRNA levels of NLRC4, NLRP12, and IL1B were significantly upregulated in Kawasaki disease (KD) patients compared to the controls, but a decreased upregulation of NLRP12 was related to coronary arterial lesion formation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS