Property Summary

NCBI Gene PubMed Count 39
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.
21418611 Cellular sphingomyelin levels are positively related to cellular cholesterol levels and sphingomyelin synthase overexpression-mediated cellular sphingomyelin content changes are related to cellular Apo A-I content and secretion
21203393 sphingomyelin synthase has a role in controlling the antimicrobial activity of neutrophils against Cryptococcus neoformans
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19779494 Altogether, our data show that SMS1 is a novel caspase target that is functionally involved in the regulation of FasL-induced apoptosis.
19506037 Results establish the sphingomyelin synthase (SMS1)-related enzyme SMSr as a key regulator of ceramide homeostasis that seems to operate as a sensor rather than a converter of ceramides in the endoplasmic reticulum.
18820264 Impaired TCR signaling through dysfunction of lipid rafts in SMS1-knockdown T cells
18694848 Both SMS1 and SMS2 contain two histidines and one aspartic acid which are conserved within the lipid phosphate phosphatase superfamily. Site-directed mutagenesis of these amino acids abolished SMS activity without altering cellular distribution.
18370930 SMS1 regulates subcellular pools of diacylglycerol-binding proteins in the Golgi apparatus.
17982138 SMS1 and SMS2 are key factors in the control of sphingomyelin and diacylglycerol metabolism within the cell, and thus they influence apoptosis.
17616479 Results indicate that both synthase (SMS)1 and 2 contribute to sphingomyelin (SM) de novo synthesis and control SM levels in the cells and on the cell membrane including plasma membrane.
17467659 Overexpression of SMS1 is associated with suppressed ceramide response and apoptotic resistance after photodamage.
17449912 Data show that sphingomyelin synthases SMS1 and SMS2 are co-expressed in a variety of cell types and function as the key Golgi- and plasma membrane-associated SM synthases in human cervical carcinoma HeLa cells, respectively.
16508036 Adenovirus-mediated SMS1 overexpression increased lipoprotein atherogenic potential.
16385451 Observational study of gene-disease association. (HuGE Navigator)
15315829 MOB gene activity is believed to be controlled at least at the transcriptional and the posttranscriptional levels, strictly regulating the amount of the encoded protein product.
14976195 SMS1 is responsible for SM synthase activity in mammalian cells and plays a critical role in cell growth of lymphoid cells.
11841947 The 1.6 kb Hmob33 clone obtained from the medulla oblongata cDNA library and mapped to the human chromosome 10 was examined to find the coding region(MOB)

AA Sequence

MLSASTMKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRLLDMI      1 - 70
ETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPMPELERSQYPMEWGK     71 - 140
TFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLIQWLL    141 - 210
LKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSH    211 - 280
NMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLF    281 - 350
WWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT     351 - 419
//

Text Mined References (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.
22952603 2012 Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
22106271 2011 Sphingomyelin and sphingomyelin synthase (SMS) in the malignant transformation of glioma cells and in 2-hydroxyoleic acid therapy.
21980337 2011 Sphingomyelin synthases regulate protein trafficking and secretion.
21856749 2011 Sphingomyelin synthase 1-generated sphingomyelin plays an important role in transferrin trafficking and cell proliferation.
21549185 2011 Human sphingomyelin synthase 1 gene (SMS1): organization, multiple mRNA splice variants and expression in adult tissues.
21418611 2011 Sphingomyelin synthase overexpression increases cholesterol accumulation and decreases cholesterol secretion in liver cells.
21203393 2010 Role of sphingomyelin synthase in controlling the antimicrobial activity of neutrophils against Cryptococcus neoformans.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19779494 2010 Caspase-mediated inhibition of sphingomyelin synthesis is involved in FasL-triggered cell death.
19506037 2009 Sphingomyelin synthase-related protein SMSr controls ceramide homeostasis in the ER.
19001565 2008 An inositolphosphorylceramide synthase is involved in regulation of plant programmed cell death associated with defense in Arabidopsis.
18820264 2008 Impaired TCR signaling through dysfunction of lipid rafts in sphingomyelin synthase 1 (SMS1)-knockdown T cells.
18694848 2008 The domain responsible for sphingomyelin synthase (SMS) activity.
18370930 2008 Sphingomyelin synthases regulate production of diacylglycerol at the Golgi.
17982138 2008 SMS overexpression and knockdown: impact on cellular sphingomyelin and diacylglycerol metabolism, and cell apoptosis.
17616479 2007 Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization.
17467659 2007 Sphingomyelin synthase 1 suppresses ceramide production and apoptosis post-photodamage.
17449912 2007 Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16508036 2006 Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15315829 2004 Human gene MOB: structure specification and aspects of transcriptional activity.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14976195 2004 Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14685263 2004 Identification of a family of animal sphingomyelin synthases.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11841947 2002 In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein.
10544266 1999 Sphingomyelin synthase in rat liver nuclear membrane and chromatin.