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)
End	54,966,312 bp
RNA expression pattern
	Top expressed in
	gonad; ; testicle; ; granulocyte; ; blood; ; left testis; ; right testis; ; duodenum; ; appendix; ; lymph node; ; spleen;
	n/a
	More reference expression data
	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
	199713
	n/a
ENSG00000276804; ENSG00000167634; ENSG00000278173; ENSG00000277179; ENSG00000274174;
	ENSG00000277776; ENSG00000277786; ENSG00000275483; ENSG00000277071; ENSG00000274571
	n/a
	Q8WX94
	n/a
	NM_001127255; NM_139176; NM_206828; NM_001405531
	n/a
	NP_001120727; NP_631915; NP_996611
	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.³⁴⁵

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

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
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"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.

[refGRCh38Ensembl-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.

[pmid12563287-3] 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.

[pmid12019269-4] 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.

[entrez-5] "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".

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