SLC35D1: Solute Carrier Family 35 Member D1
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter involved in glycosaminoglycan biosynthesis
Gene Information Card
| Symbol | SLC35D1 |
|---|---|
| Full Name | Solute Carrier Family 35 Member D1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 23169 ncbi.nlm.nih.gov/gene/23169 |
| Ensembl ID | ENSG00000116774 |
| UniProt ID | Q9NTN3 |
| OMIM ID | 610804 |
| HGNC ID | 11021 |
| Aliases | UGTrel1, UGTREL1, UGTrel8, SLC35D1 |
Description
SLC35D1 encodes a member of the solute carrier family 35 (SLC35) of nucleotide-sugar transporters. The protein localizes to the Golgi membrane and transports UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytosol into the Golgi lumen. This transport is essential for the biosynthesis of glycosaminoglycans (GAGs) such as chondroitin sulfate and heparan sulfate. Mutations in SLC35D1 are associated with Schneckenbecken dysplasia, a severe skeletal disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schneckenbecken dysplasia | Loss-of-function mutations impair UDP-GlcA/UDP-GalNAc transport, disrupting GAG synthesis and endochondral ossification | OMIM #269250; multiple missense and nonsense variants reported in ClinVar |
| Skeletal dysplasia (unspecified) | Defective proteoglycan production due to reduced nucleotide-sugar transport | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| A549 | 9.5 | Lung adenocarcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cell line |
| K562 | 4.2 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.679C>T (p.Arg227*) | Nonsense | Rare | Premature stop; loss of transporter function |
| c.1040G>A (p.Arg347His) | Missense | Rare | Impaired substrate binding; Schneckenbecken dysplasia |
| c.1162C>T (p.Arg388Trp) | Missense | Rare | Reduced Golgi localization; disease-associated |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish UDP-sugar transport activity, leading to Schneckenbecken dysplasia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005459 ~ UDP-galactose transmembrane transporter activity | • GO:0015165 ~ UDP-N-acetylgalactosamine transmembrane transporter activity |
| • GO:0015166 ~ UDP-glucuronic acid transmembrane transporter activity | • GO:0015780 ~ UDP-glucuronic acid transport |
| • GO:0015781 ~ UDP-N-acetylgalactosamine transport | • GO:0032580 ~ Golgi cisterna membrane |
| • GO:0005794 ~ Golgi apparatus | • GO:0006024 ~ glycosaminoglycan biosynthetic process |
Pathways
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate (Reactome: R-HSA-1793185)
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin (Reactome: R-HSA-1638091)
• Transport of nucleotide sugars (Reactome: R-HSA-727802)
Protein Summary
SLC35D1 is a 339-amino acid multi-pass transmembrane protein localized to the Golgi membrane. It functions as an antiporter that imports UDP-glucuronic acid and UDP-N-acetylgalactosamine into the Golgi lumen in exchange for UMP. This activity is critical for the elongation of glycosaminoglycan chains. The protein contains 10 predicted transmembrane helices and a nucleotide-sugar binding domain. Loss of function leads to severe skeletal dysplasia due to defective proteoglycan synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35D1 Knockout HEK293 Cell Line | EDJ-KQ7872 | Human | 23169 | Details Get a Quote |
| SLC35D1 Knockout A-549 Cell Line | EDJ-KQ33451 | Human | 23169 | Details Get a Quote |
| SLC35D1 Knockout HCT 116 Cell Line | EDJ-KQ33452 | Human | 23169 | Details Get a Quote |
| SLC35D1 Knockout HeLa Cell Line | EDJ-KQ33453 | Human | 23169 | Details Get a Quote |
| SLC35D1 Knockout Huh-7 Cell Line | EDC08352 | Human | 23169 | Details Get a Quote |
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