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FLASH GENE

Symbol

NLRP7

contributors: mct/pgu - updated : 13-12-2023

HGNC name	NLR family, pyrin domain containing 7
HGNC id	22947

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HYDM hydatidiform moles, familial
Location	19q13.42      Physical location : 55.434.877 - 55.458.873
Synonym name	PYRIN-containing Apaf1-like protein 3
	NACHT, leucine rich repeat and PYD containing 7
	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7
Synonym symbol(s)	PYPAF3, NOD12, MGC126470, MGC126471, NALP7, PAN7, BICHM, CLR19.4, FLJ94610

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	component of a cluster of PYPAF genes
STRUCTURE	42.75 kb     11 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_139176 11 - 3337 NP_631915 - 1009 - 2023 37148315 NM_206828 10 - 3250 NP_996611 - 980 - 2023 37148315 NM_001127255 11 - 3421 NP_001120727 - 1037 - 2023 37148315 NM_001405531 13 - 3826 NP_001392460 - 1037 - 2023 37148315

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 Endocrine adrenal gland         Reproductive female system placenta     highly Homo sapiens   female system uterus       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Epithelial barrier lining endometrium     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic progenitor cell Homo sapiens Reproductive oocyte Homo sapiens

cell lineage	in the decidual stromal cells of human first-trimester endometrium
	is predominantly expressed in the trophoblasts during the hypoxic period of placental development and its expression is upregulated by hypoxia
cell lines
fluid/secretion	lymph

at STAGE

physiological period

embryo

Text	NLRP7 transcription declines during development from oocytes to day 3 but increases again by day 5

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal PYD (Pyrin-PAAD-Dapin) domain, that adopts a six-alpha-helix bundle death domain fold
	a nucleotide binding site (NBS-NATCH subfamily)
	a leucine rich repeat region (LRR)

HOMOLOGY

Homologene

FAMILY	PYRIN-containing apoptotic protease-activating factor-1-like proteins family
	CATERPILLER protein family
	NOD-like receptor family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	co-localizes with the Golgi apparatus and the microtubule-organizing center (MTOC), which indicates that mutations in this gene may impair cytokine trafficking and secretion
	NLRP7 and KHDC3L localize to the oocyte cytoskeleton and are polar and absent from the cell-to-cell contact region in early preimplantation embryos

basic FUNCTION	maternal effect gene, responsible for recurrent spontaneous abortions, stillbirths and intrauterine growth retardation
	feedback regulator of interleukin-1beta secretion
	regulating expression of imprinted genes on several chromosomes
	inhibits caspase-1-dependent interleukin-1beta secretion
	PYRIN-containing APAF-1-like protein, feedback regulator of caspase-1-dependent interleukin-1 beta secretion
	could cause recurrent fetal loss by leading to defective oocytes or/and by creating a hostile maternal environment for embryonic development in the Fallopian tubes and the uterine cavity
	play important roles in both mammalian innate immune system and reproductive system
	regulates multiple important biological processes, especially during embryonic development
	KHDC3L, NLRP7 having roles in the integrity of the oocytes, post-zygotic divisions, and cell-lineage differentiation
	NLRP7 contributes likely to in vitro decidualization of endometrial stromal cells
	NLRP7 is likely a primate-specific multitasking gene to maintain endometrial hemostasis and reproductive success
	evidence of its role in inflammasome regulation and its implication in human reproductive diseases.
	NLRP7 increases trophoblast proliferation and decreases their differentiation, both in normal and tumor conditions
	can function in an inflammasome-dependent or independent pathway

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

immunity/defense , inflammation

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP binding

protein	recruited by ASC to distinct cytoplasmic loci and inducing NF-kappa B activation (controversial)
	negative regulator of IL1B
	bind Fas-associated factor 1 (FAF1), a protein previously recognized to activate apoptosis and inhibit NF-KB activation through PYD domain
	inhibits CASP1-dependent IL1B production
	KHDC3L displays a juxta perinuclear signal and colocalizes with NLRP7 in lymphoblastoid cell lines from normal subjects
	ZBTB16 is an interacting protein of NLRP7
	is constitutively ubiquitinated and recruited to the endolysosome for degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HYDM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in testicular seminomas tumoral       gain of function in colorectal cancer (CRC) and associated with poor survival tumoral     --over   in Gestational choriocarcinoma (CC) trophoblast cells and may contribute to their acquisition of immune tolerance via the regulation of key immune tolerance-associated factors constitutional     --other   NLRP7 machinery is deregulated in Fetal growth restriction (FGR) pregnancies

Susceptibility

to familial hydatidiform mole and spontaneous abortions to idiopathic recurrent miscarriage

Variant & Polymorphism other	variants are present, not only in patients with diploid biparental moles as previously shown, but also in patients with diploid androgenetic moles, triploid moles and tetraploid spontaneous abortions
	(rs26949)is significantly associated with idiopathic recurrent miscarriage

Candidate gene
Marker	NLRP7 could serve as a biomarker in CRC
Therapy target
	System Type Disorder Pubmed cancer digestive colon NLRP7 could serve as a novel therapeutic target for the treatment of CRC reproduction pregnancy   way for therapies of pathological pregnancies

ANIMAL & CELL MODELS