NLRP7

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NLR family, pyrin domain containing 7
Identifiers
Symbol(s) NLRP7; CLR19.4; HYDM; MGC126470; MGC126471; NALP7; NOD12; PAN7; PYPAF3
External IDs OMIM: 609661 HomoloGene: 51401
Orthologs
Human Mouse
Entrez 199713 n/a
Ensembl ENSG00000167634 n/a
Uniprot Q8WX94 n/a
Refseq NM_139176 (mRNA)
NP_631915 (protein)		 n/a (mRNA)
n/a (protein)
Location Chr 19: 60.13 - 60.15 Mb n/a
Pubmed search [1] 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]

[edit] References

  1. ^ a b Entrez Gene: NLRP7 NLR family, pyrin domain containing 7.

[edit] 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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