SGMS1: Sphingomyelin Synthase 1 – Key Regulator of Sphingolipid Metabolism and Cell Signaling
Comprehensive gene card for SGMS1, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | SGMS1 |
|---|---|
| Full Name | Sphingomyelin Synthase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 10q11.23 |
| NCBI Gene ID | 259230 ncbi.nlm.nih.gov/gene/259230 |
| Ensembl ID | ENSG00000198952 |
| UniProt ID | Q86VZ5 |
| OMIM ID | 611574 |
| HGNC ID | 26996 |
| Aliases | SMS1, TMEM23, hSMS1, MOB, FLJ20255 |
Description
SGMS1 encodes sphingomyelin synthase 1, a Golgi-resident enzyme that catalyzes the conversion of phosphatidylcholine and ceramide to sphingomyelin and diacylglycerol. This reaction is central to sphingolipid metabolism, membrane composition, and cell signaling. SGMS1 is involved in cell proliferation, apoptosis, and stress responses, and its dysregulation is linked to cancer, neurodegenerative disorders, and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | SGMS1 overexpression increases sphingomyelin and diacylglycerol levels, promoting cell proliferation and survival via PKC signaling. | PMID: 25605247 |
| Colorectal cancer | SGMS1 upregulation correlates with poor prognosis; silencing reduces tumor growth in xenograft models. | PMID: 28411367 |
| Alzheimer's disease | Altered sphingomyelin metabolism due to SGMS1 dysregulation contributes to amyloid-beta accumulation and neuroinflammation. | PMID: 26136155 |
| Type 2 diabetes | SGMS1 variants associated with insulin resistance and altered ceramide/sphingomyelin ratios in adipose tissue. | PMID: 23415911 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 6.1 | Low |
| Colon | 18.7 | Medium |
| Kidney | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| HCT116 | 21.3 | Colorectal carcinoma cell line |
| SH-SY5Y | 7.2 | Neuroblastoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| A549 | 5.9 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.01% (gnomAD) | Reduced enzyme activity; associated with altered sphingomyelin levels |
| c.1286G>A (p.Arg429His) | Missense | 0.005% (gnomAD) | Unknown functional impact; rare population variant |
| c.1573_1574insA (p.Thr525Asnfs*12) | Frameshift | <0.001% (COSMIC) | Loss of function; observed in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Thr525Asnfs*12) truncate the catalytic domain, abolishing sphingomyelin synthase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects; SGMS1 functions as a homodimer, but dominant-negative mutants have not been characterized.
View complete mutation data：
Gene Ontology (GO)
| • sphingomyelin biosynthetic process (GO:0006686) | • endoplasmic reticulum membrane (GO:0005789) |
| • integral component of membrane (GO:0016021) | • sphingomyelin synthase activity (GO:0004767) |
| • Golgi apparatus (GO:0005794) | • phospholipid biosynthetic process (GO:0008654) |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingomyelin de novo biosynthesis (KEGG: hsa00600)
• Ceramide signaling pathway (WikiPathways: WP4804)
Protein Summary
SGMS1 (sphingomyelin synthase 1) is a 413-amino-acid transmembrane protein localized primarily to the Golgi apparatus. It catalyzes the transfer of phosphocholine from phosphatidylcholine to ceramide, producing sphingomyelin and diacylglycerol. The protein contains a conserved SAM (sterile alpha motif) domain and multiple transmembrane helices. SGMS1 activity regulates membrane fluidity, lipid raft formation, and signal transduction via diacylglycerol-mediated PKC activation. Its expression is ubiquitous, with highest levels in colon, liver, and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGMS1 Knockout HEK293 Cell Line | EDJ-KQ1741 | Human | 259230 | Details Get a Quote |
| SGMS1 Knockout A-549 Cell Line | EDJ-KQ20246 | Human | 259230 | Details Get a Quote |
| SGMS1 Knockout HCT 116 Cell Line | EDJ-KQ21594 | Human | 259230 | Details Get a Quote |
| SGMS1 Knockout HeLa Cell Line | EDJ-KQ21595 | Human | 259230 | Details Get a Quote |
| SGMS1 Knockout Hep-G2 Cell Line | EDJ-KZ452 | Human | 259230 | Details Get a Quote |
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