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Structural highlights

Disease

SLN14_HUMAN Autosomal dominant thrombocytopenia with platelet secretion defect. The disease is caused by variants affecting the gene represented in this entry.

Function

SLN14_HUMAN Shows no ribosome-associated and endoribonuclease activities.^[1] Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.[UniProtKB:G1SRW8]^{[2] [3] [4]}

References

1. ↑ Pisareva VP, Muslimov IA, Tcherepanov A, Pisarev AV. Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes. Biochemistry. 2015 Jun 2;54(21):3286-301. PMID:25996083 doi:10.1021/acs.biochem.5b00302
2. ↑ Pisareva VP, Muslimov IA, Tcherepanov A, Pisarev AV. Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes. Biochemistry. 2015 Jun 2;54(21):3286-301. PMID:25996083 doi:10.1021/acs.biochem.5b00302
3. ↑ Marconi C, Di Buduo CA, Barozzi S, Palombo F, Pardini S, Zaninetti C, Pippucci T, Noris P, Balduini A, Seri M, Pecci A. SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. Thromb Haemost. 2016 May 2;115(5):1076-9. PMID:26769223 doi:10.1160/TH15-11-0884
4. ↑ Pisareva VP, Muslimov IA, Tcherepanov A, Pisarev AV. Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes. Biochemistry. 2015 Jun 2;54(21):3286-301. PMID:25996083 doi:10.1021/acs.biochem.5b00302