SLFN14

SLFN14
Identifiers
Aliases	SLFN14, BDPLT20, schlafen family member 14
External IDs	OMIM: 614958; MGI: 2684866; HomoloGene: 19082; GeneCards: SLFN14; OMA:SLFN14 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	35,560,819 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	83,177,552 bp
RNA expression pattern
	Top expressed in
	monocyte; ; bone marrow cells; ; blood; ; granulocyte; ; lymph node; ; spleen; ; right lung; ; right uterine tube; ; appendix; ; placenta;
	Top expressed in
	bone marrow; ; spleen; ; embryo; ; ovary; ; genital tubercle; ; thoracic segment of trunk; ; heart; ; stomach; ; neural tube; ; liver;
	More reference expression data
	n/a
Gene ontology
Molecular function	ribosome binding; ATP binding; endoribonuclease activity; nuclease activity; hydrolase activity; endonuclease activity; nucleotide binding;
Cellular component	cytoplasm; nucleus;
Biological process	rRNA catabolic process; cellular response to magnesium ion; cellular response to manganese ion; mRNA catabolic process; RNA phosphodiester bond hydrolysis, endonucleolytic; platelet maturation;
	Sources:Amigo / QuickGO
Orthologs
	342618
	237890
	ENSG00000236320
	ENSMUSG00000082101
	P0C7P3
	V9GXG1
	NM_001129820
	NM_001166028
	NP_001123292
	NP_001159500
	Wikidata
View/Edit Human	View/Edit Mouse

Schlafen family member 14 is a protein that in humans is encoded by the SLFN14 gene. ^[5]

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000236320 – Ensembl, May 2017
^ ^a ^b ^c 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.

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000236320 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000082101 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Schlafen family member 14". Retrieved 2020-04-11.

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Function

References

Further reading