Protein-coding gene in the species Homo sapiens
| NLRP5 |
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| Identifiers |
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| Aliases | NLRP5, CLR19.8, MATER, NALP5, PAN11, PYPAF8, NLR family, pyrin domain containing 5, NLR family pyrin domain containing 5 |
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| External IDs | OMIM: 609658; MGI: 1345193; HomoloGene: 65105; GeneCards: NLRP5; OMA:NLRP5 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 19 (human)[1] |
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| | Band | 19q13.43 | Start | 55,999,726 bp[1] |
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| End | 56,061,810 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7 A3|7 10.22 cM | Start | 23,085,314 bp[2] |
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| End | 23,141,347 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - secondary oocyte
- endometrium
- gastric mucosa
- anterior pituitary
- ovary
- monocyte
- testicle
- islet of Langerhans
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| | Top expressed in | - secondary oocyte
- egg cell
- ovary
- morula
- fossa
- seminiferous tubule
- spermatid
- blastocyst
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - nucleotide binding
- ATP binding
| | Cellular component | - cytoplasm
- nucleolus
- mitochondrion
- nucleus
| | Biological process | | | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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NM_001039143
NM_011860
NM_001305857 |
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| RefSeq (protein) | | |
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NP_001034232
NP_001292786
NP_035990 |
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| Location (UCSC) | Chr 19: 56 – 56.06 Mb | Chr 7: 23.09 – 23.14 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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NLRP5, short for NOD-like receptor family pyrin domain containing 5, is an intracellular protein that plays a role in early embryogenesis.[5][6] NLRP5 is also known as NACHT, LRR and PYD domains-containing protein 5 (NALP5), Mater protein homolog (MATER), PYPAF8, PAN11, and CLR19.8, and is one of 14 pyrin domain containing members of the NOD-like receptor family of cytoplasmic receptors known to mammals.
In humans, the NLRP5 protein is encoded by the NLRP5 gene.[7][8][9]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000171487 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015721 – 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.
- ^ Wu X (February 2009). "Maternal depletion of NLRP5 blocks early embryogenesis in rhesus macaque monkeys (Macaca mulatta)". Hum. Reprod. 24 (2): 415–24. doi:10.1093/humrep/den403. PMID 19054779.
- ^ Pisani LF, Ramelli P, Lazzari B, Braglia S, Ceciliani F, Mariani P (February 2010). "Characterization of maternal antigen that embryos require (MATER/NLRP5) gene and protein in pig somatic tissues and germ cells". J. Reprod. Dev. 56 (1): 41–8. doi:10.1262/jrd.09-098a. PMID 19815987.
- ^ "Entrez Gene: NLR family".
- ^ Tong ZB, Bondy CA, Zhou J, Nelson LM (April 2002). "A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development". Hum. Reprod. 17 (4): 903–11. doi:10.1093/humrep/17.4.903. PMID 11925379.
- ^ Tschopp J, Martinon F, Burns K (February 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.
Further reading
- Maraldi T, Riccio M, Sena P, et al. (2009). "MATER protein as substrate of PKCepsilon in human cumulus cells". Mol. Hum. Reprod. 15 (8): 499–506. doi:10.1093/molehr/gap048. PMID 19542546.
- Enjuanes A, Benavente Y, Bosch F, et al. (2008). "Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia". Cancer Res. 68 (24): 10178–86. doi:10.1158/0008-5472.CAN-08-2221. PMID 19074885.
- Alimohammadi M, Björklund P, Hallgren A, et al. (2008). "Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen". N. Engl. J. Med. 358 (10): 1018–28. doi:10.1056/NEJMoa0706487. PMID 18322283. S2CID 6542627.
- Sena P, Riccio M, Marzona L, et al. (2009). "Human MATER localization in specific cell domains of oocytes and follicular cells". Reprod. Biomed. Online. 18 (2): 226–34. doi:10.1016/s1472-6483(10)60260-x. PMID 19192343.
