NLRP14 | NOD-like receptor family | IUPHAR/BPS Guide to PHARMACOLOGY

NLRP14

Target id: 1781

Nomenclature: NLRP14

Family: NOD-like receptor family

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     NLRP14 has curated GtoImmuPdb data

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 1093 11p15.4 NLRP14 NLR family pyrin domain containing 14
Mouse - 993 7 56.10 cM Nlrp14 NLR family, pyrin domain containing 14
Previous and Unofficial Names
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
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
UniProtKB
Wikipedia
Tissue Distribution
NLRP14 is found exclusively in the testes: specifically expressed in spermatogonia, spermatocytes and spermatids
Species:  Human
Technique:  Northern blot, immunohistochemistry.
References:  1
Physiological Functions
Spermatogenesis
Species:  Human
Tissue:  Spermatogonia, spermatocytes and spermatids.
References:  1
Physiological Functions Comments
Involved in spermatogenesis
Clinically-Relevant Mutations and Pathophysiology
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. 1

References

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1. 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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How to cite this page

Clare Bryant, Tom Monie.
NOD-like receptor family: NLRP14. Last modified on 22/03/2017. Accessed on 14/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=1781.