SGMS1 (sphingomyelin synthase 1)

2007-10-01  

Identity

HGNC
LOCATION
10q11.23
LOCUSID
ALIAS
MOB,MOB1,SMS1,TMEM23,hmob33
FUSION GENES

Other Information

Locus ID:

NCBI: 259230
MIM: 611573
HGNC: 29799
Ensembl: ENSG00000198964

Variants:

dbSNP: 259230
ClinVar: 259230
TCGA: ENSG00000198964
COSMIC: SGMS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198964ENST00000361543C0MHM2
ENSG00000198964ENST00000361781Q86VZ5
ENSG00000198964ENST00000429490E6ZCI6
ENSG00000198964ENST00000602565U3KQ11
ENSG00000198964ENST00000602619R4GNI5
ENSG00000198964ENST00000619438C0MHM2
ENSG00000198964ENST00000626236C0MHM2

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
Metabolic pathwaysKEGGhsa01100
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174499122007Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells.79
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
176164792007Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization.44
221062712011Sphingomyelin and sphingomyelin synthase (SMS) in the malignant transformation of glioma cells and in 2-hydroxyoleic acid therapy.39
183709302008Sphingomyelin synthases regulate production of diacylglycerol at the Golgi.32
179821382008SMS overexpression and knockdown: impact on cellular sphingomyelin and diacylglycerol metabolism, and cell apoptosis.29
219803372011Sphingomyelin synthases regulate protein trafficking and secretion.28
186948482008The domain responsible for sphingomyelin synthase (SMS) activity.19
197794942010Caspase-mediated inhibition of sphingomyelin synthesis is involved in FasL-triggered cell death.17

Citation

Dessen P

SGMS1 (sphingomyelin synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-10-01

Online version: http://atlasgeneticsoncology.org/gene/49753/sgms1-(sphingomyelin-synthase-1)