NLRP7

NLR family, pyrin domain containing 7
Identifiers
Symbols	NLRP7; CLR19.4; FLJ94610; HYDM; MGC126470; MGC126471; NALP7; NOD12; PAN7; PYPAF3
External IDs	OMIM: 609661 HomoloGene: 51401 GeneCards: NLRP7 Gene
Gene Ontology Molecular function • nucleotide binding • ATP binding Biological process • defense response Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	199713	n/a
Ensembl	ENSG00000167634	n/a
UniProt	Q8WX94	n/a
RefSeq (mRNA)	NM_001127255.1	n/a
RefSeq (protein)	NP_001120727.1	n/a
Location (UCSC)	Chr 19: 55.43 – 55.48 Mb	n/a
PubMed search	[1]	n/a

NACHT, LRR and PYD domains-containing protein 7 is a protein that in humans is encoded by the NLRP7 gene.^[1][2][3]

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.^[3]

References

1. ^ 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. 
2. ^ 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. 
3. ^ ^{a b} "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=199713. 

Further reading

• 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. 
• 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. doi:10.1016/S0014-5793(02)03416-6. PMID 12387869. 
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19.". Nature 428 (6982): 529–35. 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. PMID 15596043. 
• 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. 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. 
• 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. 
• 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. 
• 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.