SLC35A3
Solute Carrier Family 35 Member A3
Gene Information Card
| Symbol | SLC35A3 |
|---|---|
| Full Name | Solute Carrier Family 35 Member A3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 7355 ncbi.nlm.nih.gov/gene/7355 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q9Y2D2 |
| OMIM ID | 605632 |
| HGNC ID | 11024 |
| Aliases | AMR, MFS17, SLC35A3, UDP-GlcNAc transporter |
Description
SLC35A3 encodes a member of the solute carrier family 35 (SLC35) that functions as a UDP-N-acetylglucosamine (UDP-GlcNAc) transporter localized to the Golgi apparatus. It mediates the import of UDP-GlcNAc into the Golgi lumen for N-glycan and O-GlcNAc modification. Mutations in SLC35A3 cause a congenital disorder of glycosylation (SLC35A3-CDG, also known as type IIn) characterized by skeletal dysplasia, intellectual disability, and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| SLC35A3-CDG (Congenital disorder of glycosylation type IIn) | Impaired UDP-GlcNAc transport into Golgi leads to defective N-glycosylation and skeletal abnormalities | OMIM #615553; multiple case reports (Edvardson et al., 2013) |
| Skeletal dysplasia with intellectual disability | Loss of UDP-GlcNAc transporter function disrupts proteoglycan and glycoprotein synthesis | ClinVar; functional studies in patient fibroblasts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Lung | 7.6 | Low |
| Placenta | 9.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 11.4 | Moderate expression |
| K562 | 6.8 | Low expression |
| HepG2 | 9.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680G>A (p.Arg227Gln) | Missense | Unknown | Impaired UDP-GlcNAc transport; associated with SLC35A3-CDG |
| c.1A>G (p.Met1?) | Start loss | Unknown | Loss of protein expression; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish UDP-GlcNAc transport activity, leading to glycosylation defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005459) | • UDP-N-acetylglucosamine transport (GO:0015780) |
| • Golgi apparatus (GO:0005794) | • protein glycosylation (GO:0006486) |
Pathways
• N-glycan biosynthesis (Reactome: R-HSA-446203)
• Transport of UDP-sugars into Golgi lumen (Reactome: R-HSA-727802)
Protein Summary
SLC35A3 is a 324-amino acid multi-pass transmembrane protein with 10 predicted helices, belonging to the MFS (major facilitator superfamily) transporter family. It localizes to the Golgi membrane and specifically transports UDP-N-acetylglucosamine from the cytosol into the Golgi lumen. This transport is essential for N-glycan and O-GlcNAc modification of proteins. Loss-of-function mutations cause a congenital disorder of glycosylation with skeletal and neurological involvement.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35A3 Knockout HEK293 Cell Line | EDJ-KQ51106 | Human | 23443 | Details Get a Quote |
| SLC35A3 Knockout HeLa Cell Line | EDJ-KQ55742 | Human | 23443 | Details Get a Quote |
| SLC35A3 Knockout A-549 Cell Line | EDJ-KQ64240 | Human | 23443 | Details Get a Quote |
| SLC35A3 Knockout HCT 116 Cell Line | EDJ-KQ72685 | Human | 23443 | Details Get a Quote |
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