NLRP7
NLR family, pyrin domain containing 7 | |||||||||
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Identifiers | |||||||||
Symbols | NLRP7 ; CLR19.4; HYDM; MGC126470; MGC126471; NALP7; NOD12; PAN7; PYPAF3 | ||||||||
External IDs | Template:OMIM5 HomoloGene: 51401 | ||||||||
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Orthologs | |||||||||
Template:GNF Ortholog box | |||||||||
Species | Human | Mouse | |||||||
Entrez | n/a | n/a | |||||||
Ensembl | n/a | n/a | |||||||
UniProt | n/a | n/a | |||||||
RefSeq (mRNA) | n/a | n/a | |||||||
RefSeq (protein) | n/a | n/a | |||||||
Location (UCSC) | n/a | n/a | |||||||
PubMed search | n/a | n/a |
NLR family, pyrin domain containing 7, also known as NLRP7, is a human gene.[1]
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; MIM 608107) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. The long NALP, NALP1 (MIM 606636), also has a C-terminal extension containing a function to find domain (FIIND) and a caspase recruitment domain (CARD). NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1; MIM 147678) via their involvement in multiprotein complexes called inflammasomes (Tschopp et al., 2003).[supplied by OMIM][1]
References
Further reading
- Tschopp J, Martinon F, Burns K (2003). "NALPs: a novel protein family involved in inflammation". Nat. Rev. Mol. Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287.
- 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. PMID 10072436.
- Wang L, Manji GA, Grenier JM; et al. (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.
- 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. 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. 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. 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. 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.
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