HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SGMS1
sphingomyelin synthase 1
Chromosome 10 Β· 10q11.23
NCBI Gene: 259230Ensembl: ENSG00000198964.14HGNC: HGNC:29799UniProt: E6ZCI6
66PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ceramide biosynthetic processceramide phosphoethanolamine synthase activitysphingomyelin synthase activityceramide cholinephosphotransferase activitysmoking initiationAbnormality of the skeletal systempyogenic granulomahypertrophic cardiomyopathy
✦AI Summary

SGMS1 encodes sphingomyelin synthase 1 (SMS1), the major Golgi-localized enzyme catalyzing sphingomyelin (SM) biosynthesis through reversible phosphocholine transfer from phosphatidylcholine to ceramide 1. The reaction direction depends on intracellular ceramide and diacylglycerol levels 1. SMS1 forms complexes with glucosylceramide synthase, controlling ceramide metabolic fate 1. By regulating both pro-apoptotic ceramide and anti-apoptotic diacylglycerol levels, SMS1 modulates cell survival signals and membrane raft-mediated signaling 2. SGMS1 expression is tissue-specific and regulated through alternative promoters and 5'-UTR variants, with notably elevated expression in brain tissues 3. SGMS1 generates circular RNAs predominantly in brain, containing multiple microRNA-binding sites suggesting post-transcriptional regulatory functions 4. Clinically, SGMS1 shows altered expression in lung cancer (decreased) and esophageal cancer (variable), indicating cancer-type-specific dysregulation 2. Recently, SMS1 emerged as critical for RNA virus replication; SGMS1 knockout inhibited SFTSV, SARS-CoV-2, and LCMV replication in cells 5. A novel SMS1 inhibitor protected mice against lethal SFTSV infection and reduced SARS-CoV-2 pathogenesis, suggesting SMS1 as a broad-spectrum antiviral target 5.

Sources cited
1
SGMS1 encodes SMS1, involved in sphingomyelin and diacylglycerol synthesis; located on chromosome 10, contains >20 exons with multiple transcript isoforms and circular RNA products
PMID: 30191692
2
SMS1 regulates balance between pro-apoptotic ceramide and anti-apoptotic diacylglycerol; SGMS1 expression is decreased in lung cancer and variable in esophageal cancer
PMID: 25831888
3
SGMS1 expression is tissue-specific and regulated by alternative promoters; transcripts differing in 5'-UTR show differential levels across tissues
PMID: 26065260
4
SGMS1 generates circular RNAs predominantly in brain tissue; these circRNAs contain multiple microRNA-binding sites with potential regulatory functions
PMID: 27449796
5
SGMS1-knockout reduces SM(d18:1/16:1) levels and inhibits replication of SFTSV, SARS-CoV-2, and LCMV; SMS1 inhibitor protects against lethal SFTSV and reduces SARS-CoV-2 pathogenesis
PMID: 39566509
Disease Associationsβ“˜20
smoking initiationOpen Targets
0.38Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
pyogenic granulomaOpen Targets
0.31Weak
hypertrophic cardiomyopathyOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.26Weak
peripheral vascular diseaseOpen Targets
0.20Weak
injuryOpen Targets
0.19Weak
liver diseaseOpen Targets
0.17Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
systemic lupus erythematosusOpen Targets
0.07Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
melanomaOpen Targets
0.07Suggestive
non-alcoholic steatohepatitisOpen Targets
0.07Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
Pathogenic Variants2
NM_147156.4(SGMS1):c.677G>A (p.Arg226Gln)Pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 226
NM_147156.4(SGMS1):c.857C>T (p.Thr286Met)Pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 286
View on ClinVar β†—
Related Genes
ACER2Protein interaction97%ASAH1Protein interaction97%GALCProtein interaction97%GBA1Protein interaction97%SMPD1Protein interaction97%SMPD2Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
94%
Lung
75%
Brain
73%
Liver
63%
Ovary
53%
Gene Interaction Network
Click a node to explore
SGMS1ACER2ASAH1GALCGBA1SMPD1SMPD2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86VZ5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.17–0.44]
RankingsWhere SGMS1 stands among ~20K protein-coding genes
  • #7,122of 20,598
    Most Researched66
  • #4,391of 5,498
    Most Pathogenic Variants2
  • #2,399of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedSGMS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PECULIARITIES OF THE STRUCTURE AND EXPRESSION OF HUMAN SPHINGOMYELIN SYNTHASE 1 GENE (SGMS1).
PMID: 30191692
Tsitologiia Β· 2016
1.00
2
Host specific sphingomyelin is critical for replication of diverse RNA viruses.
PMID: 39566509
Cell Chem Biol Β· 2024
0.90
3
[Expression of sphingomyelin synthase 1 (SGMS1) gene varies in human lung and oesophagus cancer].
PMID: 25831888
Mol Biol (Mosk) Β· 2014
0.80
4
[Alternative promoters localised in SGMS1 gene introns take part in regulation of its expression in human tissues].
PMID: 26065260
Mol Biol (Mosk) Β· 2015
0.70
5
Circular RNAs-one of the enigmas of the brain.
PMID: 27449796
Neurogenetics Β· 2017
0.60