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NLRP7
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 2KM6
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
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.42 Start 54,923,509 bp End 54,966,312 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad testicle granulocyte blood left testis right testis duodenum appendix lymph node spleen n/a More reference expression data BioGPS 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 Species Human Mouse Entrez 199713 n/a Ensembl ENSG00000276804 ENSG00000167634 ENSG00000278173 ENSG00000277179 ENSG00000274174 ENSG00000277776 ENSG00000277786 ENSG00000275483 ENSG00000277071 ENSG00000274571 n/a UniProt Q8WX94 n/a RefSeq (mRNA) NM_001127255 NM_139176 NM_206828 NM_001405531 n/a RefSeq (protein) NP_001120727 NP_631915 NP_996611 n/a Location (UCSC) Chr 19: 54.92 – 54.97 Mb n/a PubMed search 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.

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.

References

1. ^ 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.
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.
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.
5. ^ "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".

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. 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. 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.

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