NLRP7

NLRP7
Identifiers
Aliases	NLRP7, CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3, NLR family, pyrin domain containing 7, NLR family pyrin domain containing 7
External IDs	OMIM: 609661; HomoloGene: 51401; GeneCards: NLRP7; OMA:NLRP7 - orthologs
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	2KM6
Gene location (Human)
Chr.	Chromosome 19 (human)
End	54,966,312 bp
RNA expression pattern
	Top expressed in
	gonad; ; testicle; ; granulocyte; ; blood; ; left testis; ; right testis; ; duodenum; ; appendix; ; lymph node; ; spleen;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	ATP binding; nucleotide binding; aspartic-type endopeptidase inhibitor activity; interleukin-1 binding; caspase binding;
Cellular component	cellular component;
Biological process	negative regulation of endopeptidase activity; negative regulation of protein processing; cellular response to lipopolysaccharide; cellular response to interleukin-1; negative regulation of cytokine production involved in inflammatory response; negative regulation of aspartic-type peptidase activity;
	Sources:Amigo / QuickGO
Orthologs
	199713
	n/a
ENSG00000276804; ENSG00000167634; ENSG00000278173; ENSG00000277179; ENSG00000274174;
	ENSG00000277776; ENSG00000277786; ENSG00000275483; ENSG00000277071; ENSG00000274571
	n/a
	Q8WX94
	n/a
	NM_001127255; NM_139176; NM_206828; NM_001405531
	n/a
	NP_001120727; NP_631915; NP_996611
	n/a
	Wikidata
View/Edit Human

NACHT, LRR and PYD domains-containing protein 7 is a protein that in humans is encoded by the NLRP7 gene.^[3]^[4]^[5]

Function

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP7, have an N-terminal pyrin (MEFV) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1) via their involvement in multiprotein complexes called inflammasomes.^[5]

References

1 2 3 ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 GRCh38: Ensembl release 89: ENSG00000276804, ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287. S2CID 31417018.
↑ Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J (Aug 2002). "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing". J Biol Chem. 277 (33): 29874–80. doi:10.1074/jbc.M203915200. PMID 12019269.
1 2 "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".

Inohara N, Nuñez G (2003). "NODs: intracellular proteins involved in inflammation and apoptosis". Nat. Rev. Immunol. 3 (5): 371–82. doi:10.1038/nri1086. PMID 12766759. S2CID 8088987.
Moglabey YB, Kircheisen R, Seoud M, et al. (1999). "Genetic mapping of a maternal locus responsible for familial hydatidiform moles". Hum. Mol. Genet. 8 (4): 667–71. doi:10.1093/hmg/8.4.667. PMID 10072436.
Grenier JM, Wang L, Manji GA, et al. (2002). "Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1". FEBS Lett. 530 (1–3): 73–8. Bibcode:2002FEBSL.530...73G. doi:10.1016/S0014-5793(02)03416-6. PMID 12387869. S2CID 25023390.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
Okada K, Hirota E, Mizutani Y, et al. (2005). "Oncogenic role of NALP7 in testicular seminomas". Cancer Sci. 95 (12): 949–54. doi:10.1111/j.1349-7006.2004.tb03182.x. PMC 11158205. PMID 15596043. S2CID 13403889.
Kinoshita T, Wang Y, Hasegawa M, et al. (2005). "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion". J. Biol. Chem. 280 (23): 21720–5. doi:10.1074/jbc.M410057200. hdl:2297/2649. PMID 15817483.
Murdoch S, Djuric U, Mazhar B, et al. (2006). "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans". Nat. Genet. 38 (3): 300–2. doi:10.1038/ng1740. PMID 16462743. S2CID 28580007.
Bestor TH, Bourc'his D (2006). "Genetics and epigenetics of hydatidiform moles". Nat. Genet. 38 (3): 274–6. doi:10.1038/ng0306-274. PMID 16501554. S2CID 22981053.
Djuric U, El-Maarri O, Lamb B, et al. (2007). "Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation". Hum. Genet. 120 (3): 390–5. doi:10.1007/s00439-006-0192-3. PMID 16874523. S2CID 10117000.
Qian J, Deveault C, Bagga R, et al. (2007). "Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations". Hum. Mutat. 28 (7): 741. doi:10.1002/humu.9498. PMID 17579354. S2CID 43136262.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 GRCh38: Ensembl release 89: ENSG00000276804, ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12563287-3] Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287. S2CID 31417018.

[pmid12019269-4] Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J (Aug 2002). "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing". J Biol Chem. 277 (33): 29874–80. doi:10.1074/jbc.M203915200. PMID 12019269.

[entrez-5] 1 2 "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".

[1]

[2]

[3]

[4]

[5]

v t e NOD-like receptor family
CARD domain containing	NOD1/NLRC1 NOD2/NLRC2 NLRC3 NLRC4 NLRC5
Pyrin domain containing	NLRP1 NLRP2 NLRP3 NLRP4 NLRP5 NLRP6 NLRP7 NLRP8 NLRP9 NLRP10 NLRP11 NLRP12 NLRP13 NLRP14
Apoptosis inhibitory protein	NAIP
Family member X1	NLRX1
Category

This page was redesigned at the edge.

NLRP7

Function

References

Further reading