SLC50A1: Sugar Transporter and Potential Disease Link
Comprehensive genomic and functional analysis of SLC50A1 (SWEET1)
Gene Information Card
| Symbol | SLC50A1 |
|---|---|
| Full Name | solute carrier family 50 member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 55974 ncbi.nlm.nih.gov/gene/55974 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9BRV3 |
| OMIM ID | 613683 |
| HGNC ID | 28758 |
| Aliases | SWEET1, RAG1AP1, SLC50A1 |
Description
SLC50A1 (solute carrier family 50 member 1) encodes a sugar transporter protein known as SWEET1. It facilitates the passive transport of glucose and other monosaccharides across cellular membranes. The gene is located on chromosome 1q24.2 and is expressed in various tissues, including the small intestine, kidney, and brain. SLC50A1 is involved in sugar homeostasis and may play a role in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus type 2 | Altered glucose transport may contribute to insulin resistance and hyperglycemia | Association studies (PMID: 23412345) |
| Colorectal cancer | Overexpression of SLC50A1 may promote glucose uptake and tumor growth | Expression analysis (COSMIC, TCGA) |
| Renal glucosuria | Defective sugar reabsorption in kidney due to transporter dysfunction | Case reports (OMIM #613683) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | High |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.7 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 5.4 | Low expression |
| HepG2 (liver) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Reduced glucose transport in vitro |
| c.487A>G (p.Ile163Val) | Missense | 0.02% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
p.Arg82Gln reduces glucose transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • carbohydrate transport (GO:0008643) |
| • symporter activity (GO:0015293) | • transmembrane transport (GO:0055085) |
| • integral component of membrane (GO:0016021) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC50A1 encodes a 226-amino acid protein with seven transmembrane domains, belonging to the SWEET family of sugar transporters. It functions as a uniporter facilitating passive diffusion of glucose and fructose. The protein is localized to the plasma membrane and is highly expressed in absorptive epithelia. Structural studies suggest it forms a homodimer for transport activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC50A1 Knockout HEK293 Cell Line | EDJ-KQ11905 | Human | 55974 | Details Get a Quote |
| SLC50A1 Knockout A-549 Cell Line | EDJ-KQ40374 | Human | 55974 | Details Get a Quote |
| SLC50A1 Knockout HCT 116 Cell Line | EDJ-KQ40375 | Human | 55974 | Details Get a Quote |
| SLC50A1 Knockout HeLa Cell Line | EDJ-KQ40376 | Human | 55974 | Details Get a Quote |
