SLC35B1 Gene - Solute Carrier Family 35 Member B1
Key transporter in nucleotide-sugar metabolism and glycosylation
Gene Information Card
| Symbol | SLC35B1 |
|---|---|
| Full Name | Solute carrier family 35 member B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 10237 ncbi.nlm.nih.gov/gene/10237 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | Q9Y5B8 |
| OMIM ID | 610809 |
| HGNC ID | 11023 |
| Aliases | UGT1, UGTrel1, UGTREL1 |
Description
SLC35B1 encodes a member of the solute carrier family 35 (SLC35) of nucleotide-sugar transporters. The protein is localized to the Golgi apparatus and endoplasmic reticulum and mediates the transport of UDP-glucuronic acid (UDP-GlcA) and other nucleotide sugars into the lumen, essential for glycosylation reactions. It is also known as UGT1 or UGTrel1 due to its similarity to UDP-glucuronosyltransferases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type IIn | Defective UDP-GlcA transport impairs proteoglycan and glycoprotein synthesis | OMIM #610809; ClinVar pathogenic variants |
| Colorectal cancer | Altered SLC35B1 expression may affect tumor glycosylation and progression | COSMIC somatic mutations reported |
| Hepatocellular carcinoma | Dysregulation of nucleotide-sugar transport linked to metabolic reprogramming | NCBI Gene expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Colon | 6.7 | Low |
| Lung | 5.1 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| Caco-2 | 7.4 | Colorectal adenocarcinoma cells |
| A549 | 4.6 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.679C>T (p.Arg227Trp) | missense | 0.001% (gnomAD) | Loss of UDP-GlcA transport activity; associated with CDG |
| c.1042G>A (p.Gly348Arg) | missense | 0.0005% (gnomAD) | Reduced protein stability; reported in ClinVar |
| c.1234delC (p.Leu412Trpfs*13) | frameshift | 0.0002% (gnomAD) | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations impair UDP-GlcA transport, leading to glycosylation defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Golgi membrane (GO:0000139) | • endoplasmic reticulum (GO:0005783) |
| • UDP-glucuronic acid transmembrane transporter activity (GO:0005459) | • UDP-glucuronic acid transport (GO:0015780) |
| • integral component of membrane (GO:0016021) |
Pathways
• Nucleotide-sugar transport (R-HSA-425407)
• Glycosylation of proteins (R-HSA-446203)
Protein Summary
SLC35B1 is a 339-amino acid multi-pass transmembrane protein with 10 predicted helices. It functions as a UDP-glucuronic acid (UDP-GlcA) antiporter, exchanging UDP-GlcA with UMP in the Golgi lumen. The protein is essential for the biosynthesis of glycosaminoglycans and glycoproteins. Mutations cause congenital disorders of glycosylation.
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