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NLRP14

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Immunopharmacology Ligand target has curated data in GtoImmuPdb

Target id: 1781

Nomenclature: NLRP14

Family: NOD-like receptor family

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1093 11p15.4 NLRP14 NLR family pyrin domain containing 14
Mouse - 993 7 E3 Nlrp14 NLR family, pyrin domain containing 14
Previous and Unofficial Names Click here for help
CLR11.2 | GC-LRR | NALP14 | NOD5 | PAN8 | NACHT, leucine rich repeat and PYD containing 14 | NLR family, pyrin domain containing 14 | NLR family
Database Links Click here for help
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Pharos
UniProtKB
Wikipedia
Immunopharmacology Comments
NLRP proteins are critical components of inflammasome complexes and are thereby involved in inflammasome-mediated activation of proinflammatory caspases. NLRP14 has the typical PYD-NACHT-LRR domain structure common to the NLRP protein family [1]. But despite this structural homology the biological function of NLRP14 is not as well defined as other similar proteins.
Tissue Distribution Click here for help
NLRP14 is found exclusively in the testes: specifically expressed in spermatogonia, spermatocytes and spermatids
Species:  Human
Technique:  Northern blot, immunohistochemistry.
References:  2
Physiological Functions Click here for help
Spermatogenesis
Species:  Human
Tissue:  Spermatogonia, spermatocytes and spermatids.
References:  2
Physiological Functions Comments
Involved in spermatogenesis
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Spermatogenic failure
Description: A common cause of male subfertility (see PubMed ID 10522977). Resulting from various etiologies.
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Type Species Amino acid change Nucleotide change Description Reference
Missense- premature STOP codon Human K108X Results in expression of a truncated protein which lacks the functional NACHT and LRR domains. 2

References

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1. Tschopp J, Martinon F, Burns K. (2003) NALPs: a novel protein family involved in inflammation. Nat. Rev. Mol. Cell Biol., 4 (2): 95-104. [PMID:12563287]

2. Westerveld GH, Korver CM, van Pelt AM, Leschot NJ, van der Veen F, Repping S, Lombardi MP. (2006) Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Hum. Reprod., 21 (12): 3178-84. [PMID:16931801]

Contributors

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