SLC35F1: Solute Carrier Family 35 Member F1
A nucleotide-sugar transporter with emerging roles in cellular homeostasis and disease
Gene Information Card
| Symbol | SLC35F1 |
|---|---|
| Full Name | Solute carrier family 35 member F1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 222553 ncbi.nlm.nih.gov/gene/222553 |
| Ensembl ID | ENSG00000196376 |
| UniProt ID | Q8N5K1 |
| OMIM ID | 618804 |
| HGNC ID | 29318 |
| Aliases | FLJ20701, MGC138499 |
Description
SLC35F1 encodes a member of the solute carrier family 35 (SLC35) of nucleotide-sugar transporters. These proteins are localized to the Golgi apparatus and endoplasmic reticulum membranes, where they transport nucleotide sugars into the lumen for glycosylation reactions. SLC35F1 is predicted to function as a UDP-sugar transporter, playing a role in glycoconjugate biosynthesis. Its expression is enriched in the brain and testis, and alterations have been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Impaired glycosylation due to SLC35F1 loss-of-function variants | OMIM #618804; ClinVar |
| Intellectual disability | Disrupted nucleotide-sugar transport affecting neuronal glycoprotein synthesis | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.3 | Medium |
| Testis | 10.1 | Medium |
| Adrenal gland | 6.5 | Low |
| Thyroid | 5.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| HEK293 (embryonic kidney) | 6.4 | Common expression |
| HeLa (cervical carcinoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Likely damaging; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg113Trp) impair transporter activity, leading to defective glycosylation and neurological phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for SLC35F1.
View complete mutation data：
Gene Ontology (GO)
| • UDP-galactose transmembrane transporter activity (GO:0005459) | • nucleotide-sugar transmembrane transport (GO:0015780) |
| • Golgi apparatus (GO:0005794) | • Golgi membrane (GO:0000139) |
Pathways
• Nucleotide-sugar transport (Reactome: R-HSA-425407)
• Glycosylation of proteins (Reactome: R-HSA-446203)
Protein Summary
SLC35F1 is a 335-amino acid multi-pass membrane protein localized to the Golgi apparatus. It belongs to the triose-phosphate transporter (TPT) family within the SLC35 superfamily. The protein contains 10 predicted transmembrane helices and functions as a nucleotide-sugar antiporter, exchanging UDP-sugars for UMP. Its expression is highest in brain and testis, suggesting specialized roles in neuronal and reproductive glycosylation. Structural modeling indicates a conserved substrate-binding pocket critical for transport activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35F1 Knockout HEK293 Cell Line | EDJ-KQ9021 | Human | 222553 | Details Get a Quote |
| SLC35F1 Knockout HeLa Cell Line | EDJ-KQ59191 | Human | 222553 | Details Get a Quote |
| SLC35F1 Knockout A-549 Cell Line | EDJ-KQ67660 | Human | 222553 | Details Get a Quote |
| SLC35F1 Knockout HCT 116 Cell Line | EDJ-KQ76047 | Human | 222553 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
