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http://purl.uniprot.org/citations/30191692http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/30191692http://www.w3.org/2000/01/rdf-schema#comment"The article is a review of the results of the study of the structural and functional organization of the human sphingomyelin synthase 1 gene (SGMS1) in Human Molecular Genetics Department of Institute of Molecular Genetics RAS. SGMS1 gene encodes an essential enzyme which is involved in the synthesis of sphingomyelin and diacylglycerol from phosphatidylcholine and ceramide, wich determines its participation in the regulation of intracellular vesicular transport, cholesterol metabolism, cell proliferation, apoptosis and other significant processes. Our research has shown that the SGMS1 gene is located on the chromosome 10, has a size of 320 kb and contains more than 20 exons. A detailed study of the SGMS1 gene’s structure allowed us to identify the variety of its transcripts. mRNA isoforms with different fragments of 5R untranslated region (5R UTR) and encoding the full length protein, as well as transcripts resulting from alternative combinations of exons and containing the coding region of the gene and 3R UTR have been discovered. We have found new transcripts among the products of SGMS1 gene — circular RNAs, which mostly contained sequences of multi-exon 5R UTR of the gene. They are conservative and predominantly expressed in the brain. Circular RNAs of SGMS1 gene had a large number of binding sites for a microRNA that may determine the functional significance of these molecules. The review describes the latest information about the structural and functional organization of the human gene SGMS1 as well as the features of its expression."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/author"Dergunova L.V."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/author"Limborska S.A."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/author"Rozhkova A.V."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/author"Sudarkina O.Y."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/author"Filippenkov I.B."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/name"Tsitologiia"xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/pages"267-271"xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/title"PECULIARITIES OF THE STRUCTURE AND EXPRESSION OF HUMAN SPHINGOMYELIN SYNTHASE 1 GENE (SGMS1)."xsd:string
http://purl.uniprot.org/citations/30191692http://purl.uniprot.org/core/volume"58"xsd:string
http://purl.uniprot.org/citations/30191692http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/30191692
http://purl.uniprot.org/citations/30191692http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/30191692
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