SLFN14
Schlafen family member 14 is a protein that in humans is encoded by the SLFN14 gene. [5]
SLFN14 | |||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||
Aliases | SLFN14, BDPLT20, schlafen family member 14 | ||||||||||||||||||||||||
External IDs | OMIM: 614958 MGI: 2684866 HomoloGene: 19082 GeneCards: SLFN14 | ||||||||||||||||||||||||
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Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 17: 35.55 – 35.56 Mb | Chr 11: 83.28 – 83.29 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
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Function
The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016].
References
- GRCh38: Ensembl release 89: ENSG00000236320 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000082101 - 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.
- "Entrez Gene: Schlafen family member 14". Retrieved 2020-04-11.
Further reading
- Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV (September 2015). "SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects". J. Clin. Invest. 125 (9): 3600–5. doi:10.1172/JCI80347. PMC 4588283. PMID 26280575.
- Marconi C, Di Buduo CA, Barozzi S, Palombo F, Pardini S, Zaninetti C, Pippucci T, Noris P, Balduini A, Seri M, Pecci A (May 2016). "SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia". Thromb. Haemost. 115 (5): 1076–9. doi:10.1160/TH15-11-0884. PMID 26769223.
- Seong RK, Seo SW, Kim JA, Fletcher SJ, Morgan NV, Kumar M, Choi YK, Shin OS (November 2017). "Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication". Immunobiology. 222 (11): 979–988. doi:10.1016/j.imbio.2017.07.002. PMC 5990420. PMID 28734654.
- Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV (July 2018). "Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation". RNA. 24 (7): 939–949. doi:10.1261/rna.066415.118. PMC 6004054. PMID 29678925.
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