Property Summary

NCBI Gene PubMed Count 39
Grant Count 44
R01 Count 24
Funding $3,791,564
PubMed Score 38.20
PubTator Score 187.01

Knowledge Summary

Patent

No data available

Gene RIF (27)

PMID Text
26065260 The structural organization of 5'-UTR variants of SGMS1 transcripts, directed by alternative promoters, is substantially different; this can provide regulation of the gene functioning on post-transcriptional level.
25912551 A study of the expression of the full-length SMS1 protein and the sum of the alternative transcripts encoding this protein in human tissues.
24960545 We found upregulation of specific sphingolipid enzymes, namely sphingomyelin synthase 1 (SMS1), sphingomyelinase 3 (SMPD3), and glucosylceramide synthase (GCS) in the endometrium of endometriotic women.
24062078 The amount of SMS1 transcripts varies considerably between different human tissues.
23977395 SGMS activity impacts on amyloid precursor protein processing to produce amyloid-beta (Abeta) and it could be a contributing factor in Abeta pathology associated with Alzheimer's disease.
23160178 Findings indicate that Sms1 is a downstream target of Bcr-abl, involved in sustaining cell proliferation of Bcr-abl-positive cells.
22106271 Data indicate that the increased sphingomyelin mass was due to a rapid and highly specific activation of sphingomyelin synthases SMS1 and SMS2.
21980337 SMS1 and SMS2 are capable of regulating TGN-mediated protein trafficking and secretion
21856749 SMS1-mediated SM synthesis directs Tf-TfR to undergo clathrin-dependent endocytosis and recycling, promoting the proliferation of lymphoma cells.
21549185 Our results indicate that the regulation of SMS1 expression is complex and occurs at the transcriptional, post-transcriptional and translational levels.
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AA Sequence

MLSASTMKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRLLDMI      1 - 70
ETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPMPELERSQYPMEWGK     71 - 140
TFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLIQWLL    141 - 210
LKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSH    211 - 280
NMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLF    281 - 350
WWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT     351 - 419
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Publication (42)

PMID Year Title
26274505 2015 Circular RNA of the human sphingomyelin synthase 1 gene: Multiple splice variants, evolutionary conservatism and expression in different tissues.
26065260 [Alternative promoters localised in SGMS1 gene introns take part in regulation of its expression in human tissues].
25912551 2015 Comparative analysis of sphingomyelin synthase 1 gene expression at the transcriptional and translational levels in human tissues.
25605874 2015 All members in the sphingomyelin synthase gene family have ceramide phosphoethanolamine synthase activity.
24960545 2014 Dysregulated sphingolipid metabolism in endometriosis.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24062078 2013 The use of alternative polyadenylation in the tissue-specific regulation of human SMS1 gene expression.
23977395 2013 Elevation in sphingomyelin synthase activity is associated with increases in amyloid-beta peptide generation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23160178 2013 Sphingomyelin synthase 1 activity is regulated by the BCR-ABL oncogene.
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