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Nlr Family, Pyrin-domain Containing 8 OKDB#: 2961
 Symbols: NLRP8 Species: human
 Synonyms: PAN4, NALP8, NOD16, CLR19.2,NACHT DOMAIN-, LEUCINE-RICH REPEAT-, AND PYD-CONTAINING PROTEIN 8, NALP8|PYRIN DOMAIN- AND NACHT DOMAIN-CONTAINING PROTEIN 4, PAN4|NOD16  Locus: 19q13.42 in Homo sapiens


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General Comment NCBI Summary: NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP8, 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 [PubMed 12563287]).[supplied by OMIM]
General function Cell death/survival
Comment
Cellular localization Nuclear, Mitochondrial
Comment
Ovarian function
Comment Expression analysis of the NLRP gene family suggests a role in human preimplantation development. Zhang P et al. BACKGROUND: The NLRP (Nucleotide-binding oligomerization domain, Leucine rich Repeat and Pyrin domain containing) family, also referred to as NALP family, is well known for its roles in apoptosis and inflammation. Several NLRPs have been indicated as being involved in reproduction as well. METHODOLOGY: We studied, using the unique human gametes and embryo materials, the expression of the NLRP family in human gametes and preimplantation embryos at different developmental stages, and compared the expression levels between normal and abnormal embryos using real-time PCR. PRINCIPAL FINDINGS: Among 14 members of the NLRP family, twelve were detected in human oocytes and preimplantation embryos, whereas seven were detected in spermatozoa. Eight NLRPs (NLRP4, 5, 8, 9, 11, 12, 13, and 14) showed a similar expression pattern: their expression levels were high in oocytes and then decreased progressively in embryos, resulting in a very low level in day 5 embryos. However, NLRP2 and NLRP7 showed a different expression pattern: their expression decreased from oocytes to the lowest level by day 3, but increased again by day 5. The expression levels of NLRP5, 9, and 12 were lower in day 1 abnormal embryos but higher in day3 and day5 arrested embryos, when compared with normal embryos at the same stages. NLRP7 was down-regulated in day 1 and day 5 abnormal embryos but over-expressed in day3 arrested embryos. CONCLUSIONS: According to our results, different NLRPs possibly work in a stage-dependent manner during human preimplantation development.
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Expression in Adult Tissues, Oocytes, and Preimplantation Embryos Ponsuksili S, et al . A 3,204 bp full-length cDNA of bovine NALP9 was cloned and its genomic organisation was analyzed. The 2,988 bp open reading frame covers 9 exons and encodes a deduced protein of 996 amino acids containing Pyrin, Nacht and leucine-rich repeat domains like the human NALP gene family members. Mapping with the WGRH5000 panel and fluorescence in situ hybridisation assigned NALP9 in close vicinity to BM2078 (LOD score 25.71; distance 0.0 cR5,000) on bovine chromosome 18, BTA18q25-q26, within a previously identified QTL region for reproductive traits flanked by the bovine marker BM2078 and TGLA227. BAC contig analysis revealed that NALP9, NALP8 and NALP5 map in this QTL region. Temporospatial expression of these members of the NALP gene family was monitored. Among the adult tissues examined, transcripts of NALP8 and NALP9 were detected exclusively in testis and ovary, whereas transcripts of the NALP5 gene are limited to the ovary. The transcripts of NALP9, NALP8 and NALP5 were detected in oocytes before and after in vitro maturation and with a gradual decline from 2-cell to 8-cell stage, suggesting no reactivation at the time of bovine maternal to embryonic transition. Assignment to a QTL region for reproductive traits and preferential expression of NALP9, NALP8, and NALP5 in oocyte, germinal lineage, and gonad cells may suggest their functional relevance to reproduction and possible contribution to phenotypic variation.
Follicle stages Antral, Preovulatory
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: Dec. 14, 2005, 7:20 a.m. by: hsueh   email:
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last update: July 31, 2008, 4:43 p.m. by: hsueh    email:



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