NLRP2
This article may be too technical for most readers to understand.(November 2018) |
NLRP2 | |||
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Identifiers | |||
Gene ontology | |||
Molecular function | |||
Cellular component | |||
Biological process | |||
Sources:Amigo / QuickGO |
Ensembl |
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UniProt |
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RefSeq (mRNA) | |||||||||
RefSeq (protein) |
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Location (UCSC) | Chr 19: 54.95 – 55 Mb | Chr 7: 5.3 – 5.35 Mb | |||||||
PubMed search | [3] | [4] |
View/Edit Human | View/Edit Mouse |
NACHT, LRR and PYD domains-containing protein 2 is a protein that in humans is encoded by the NLRP2 gene.[5][6][7]
NALP proteins, such as NALP2, are characterized by an N-terminal pyrin domain (PYD) and are involved in the activation of caspase-1 (CASP1; MIM 147678) by Toll-like receptors(see TLR4). They may also be involved in protein complexes that activate proinflammatory caspases (Tschopp et al., 2003).[supplied by OMIM][7][8]
Function
The NLRP2 gene is one of the family members of nucleotide-binding and leucine-rich repeat receptor (NLR). Information from many literature sources indicates that an N-terminal pyrin effector domain (PYD) is one of the components of the NLRP2 gene. Other components include a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR).[9] The products of NLRP2 gene are known to interact with IkB kinase (IKK) complex components. It can also regulate the activities of both caspase-1 and nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB). The pyrin domain is essential and adequate to suppress the activities of NF-kB (Minkiewicz, de Rivero Vaccari and Keane 1113). An allelic variant (rs147585490) is known to block the NF-kB transcriptional activities. NLRP2 gene is one of the NLR family; it is believed to contribute to the regulation of immune responses (Minkiewicz, de Rivero Vaccari and Keane 1121). Although it is not well understood, the NLRP2 gene is responsible for maintaining fertility in females and contributes to the normal birth. The NPRP2 gene encodes for a human protein known as "NACHT, LRR and PYD domains-containing protein 2".[10] NALP2, which is one of the NALP proteins, has an N-terminal pyrin characterization also encoded as MIM 608107 and PYD domain.[11] The NALP2 protein has a role in the activation process of caspase-1, which is encoded as CASP1; MIM 147678. The activation process occurs through the Toll-like receptors. The NALP2 may also take part in protein complexes, which initiates the activation of proinflammatory caspases.[12] NLR family regulates the functioning of the immune system, which technically compromises the normal functions of the body including reproduction.
Discovery
The NLR gene family where the NLRP2 gene belongs was first extracted from zebrafish, which is a common specimen for the study of immune systems. The NLRP2 gene is believed to have originated from the NLR gene family through
Mutation and infertility
The deficiency of NLRP2 gene results in the inhibition of the activation of oocytes.[17] The NLRP2 gene is exclusively expressed in oocytes. Therefore, it regulates the quality of the oocytes, which explains its relation to infertility in females.[18]
References
- ^ a b c ENSG00000275796, ENSG00000277060, ENSG00000275843, ENSG00000275399, ENSG00000022556, ENSG00000275082, ENSG00000278682, ENSG00000274638, ENSG00000273992 GRCh38: Ensembl release 89: ENSG00000278789, ENSG00000275796, ENSG00000277060, ENSG00000275843, ENSG00000275399, ENSG00000022556, ENSG00000275082, ENSG00000278682, ENSG00000274638, ENSG00000273992 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035177 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- S2CID 31417018.
- PMID 11270363.
- ^ a b "Entrez Gene: NLRP2 NLR family, pyrin domain containing 2".
- ^ "NLRP2 NLR family pyrin domain containing 2 [ Homo sapiens (human) ]". NCBI.
- S2CID 24606692.
- S2CID 52163882.
- PMID 28630100.
- PMID 28117838.
- S2CID 52163882.
- PMID 30183071.
- S2CID 24606692.
- PMID 28422141.
- S2CID 24606692.
- S2CID 52163882.
Further reading
- Teng SC, Wu KJ, Tseng SF, et al. (September 2006). "Importin KPNA2, NBS1, DNA repair and tumorigenesis". Journal of Molecular Histology. 37 (5–7): 293–9. S2CID 7281949.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.
- Martinon F, Hofmann K, Tschopp J (February 2001). "The pyrin domain: a possible member of the death domain-fold family implicated in apoptosis and inflammation". Current Biology. 11 (4): R118-20. S2CID 18564343.
- Wang L, Manji GA, Grenier JM, et al. (August 2002). "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing". The Journal of Biological Chemistry. 277 (33): 29874–80. PMID 12019269.
- Grenier JM, Wang L, Manji GA, et al. (October 2002). "Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1". FEBS Letters. 530 (1–3): 73–8. S2CID 25023390.
- Agostini L, Martinon F, Burns K, et al. (March 2004). "NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder". Immunity. 20 (3): 319–25. PMID 15030775.
- Bruey JM, Bruey-Sedano N, Newman R, et al. (December 2004). "PAN1/NALP2/PYPAF2, an inducible inflammatory mediator that regulates NF-kappaB and caspase-1 activation in macrophages". The Journal of Biological Chemistry. 279 (50): 51897–907. PMID 15456791.
- Kinoshita T, Wang Y, Hasegawa M, et al. (June 2005). "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion". The Journal of Biological Chemistry. 280 (23): 21720–5. PMID 15817483.
- Rink L, Slupianek A, Stoklosa T, et al. (July 2007). "Enhanced phosphorylation of Nbs1, a member of DNA repair/checkpoint complex Mre11-RAD50-Nbs1, can be targeted to increase the efficacy of imatinib mesylate against BCR/ABL-positive leukemia cells". Blood. 110 (2): 651–60. PMID 17431132.