NLRP7

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) [1] Band 19q13.42 Start 54,923,509 bp [1] End 54,966,312 bp [1]
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 [2] 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. 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. 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.