SLC35F3: Solute Carrier Family 35 Member F3
A thiamine transporter with roles in cellular metabolism and potential links to neurological disorders
Gene Information Card
| Symbol | SLC35F3 |
|---|---|
| Full Name | Solute Carrier Family 35 Member F3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 148641 ncbi.nlm.nih.gov/gene/148641 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q8IY21 |
| OMIM ID | 616575 |
| HGNC ID | 29337 |
| Aliases | FLJ22662, MGC138499 |
Description
SLC35F3 encodes a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. The protein functions as a thiamine (vitamin B1) transporter, facilitating the uptake of thiamine into cells. Thiamine is essential for carbohydrate metabolism and neural function. SLC35F3 is expressed in various tissues, with notable levels in the brain, and variants have been associated with thiamine metabolism dysfunction and neurological phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thiamine-responsive megaloblastic anemia syndrome (TRMA) | SLC35F3 mutations impair thiamine transport, leading to cellular thiamine deficiency and metabolic dysfunction. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare variants in SLC35F3 may contribute to altered thiamine homeostasis in neural development. | ClinVar, literature |
| Schizophrenia | Association studies suggest SLC35F3 polymorphisms influence thiamine-dependent pathways in the brain. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 5.1 | Low |
| Kidney | 7.2 | Medium |
| Testis | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| HEK293 (embryonic kidney) | 6.5 | Common cell line |
| HepG2 (hepatocellular carcinoma) | 4.8 | Liver model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.001% | Reduced thiamine transport activity |
| c.457G>A (p.Glu153Lys) | Missense | 0.002% | Altered protein stability |
| c.789delC | Frameshift | <0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent protein, impairing thiamine uptake.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may interfere with dimerization or transport, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • thiamine transmembrane transporter activity (GO:0015238) | • thiamine transport (GO:0015888) |
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• Thiamine metabolism (Reactome: R-HSA-196849)
• Vitamin B1 (thiamine) transport (KEGG: hsa00730)
Protein Summary
SLC35F3 is a 10-transmembrane domain protein localized to the plasma membrane. It mediates the cellular uptake of thiamine (vitamin B1) in a pH-dependent manner. The protein is essential for maintaining intracellular thiamine levels, which are critical for energy metabolism, neurotransmitter synthesis, and myelin formation. Structural studies indicate a homodimeric architecture, and mutations in conserved residues disrupt transport function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35F3 Knockout HEK293 Cell Line | EDJ-KQ2105 | Human | 148641 | Details Get a Quote |
| SLC35F3 Knockout A-549 Cell Line | EDJ-KQ22225 | Human | 148641 | Details Get a Quote |
| SLC35F3 Knockout HCT 116 Cell Line | EDJ-KQ22226 | Human | 148641 | Details Get a Quote |
| SLC35F3 Knockout HeLa Cell Line | EDJ-KQ22227 | Human | 148641 | Details Get a Quote |
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