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) [1] Band 17q12 Start 35,543,985 bp [1] End 35,560,819 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11|11 C Start 83,165,936 bp [2] End 83,177,552 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 342618 237890 Ensembl ENSG00000236320 ENSMUSG00000082101 UniProt P0C7P3 V9GXG1 RefSeq (mRNA) NM_001129820 NM_001166028 RefSeq (protein) NP_001123292 NP_001159500 Location (UCSC) Chr 17: 35.54 – 35.56 Mb Chr 11: 83.17 – 83.18 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000236320 – Ensembl, May 2017
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.
5. "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.

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