SLC35B4: Solute Carrier Family 35 Member B4
UDP-Xylose and UDP-N-Acetylglucosamine Transporter
Gene Information Card
| Symbol | SLC35B4 |
|---|---|
| Full Name | Solute Carrier Family 35 Member B4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q33 |
| NCBI Gene ID | 84912 ncbi.nlm.nih.gov/gene/84912 |
| Ensembl ID | ENSG00000105928 |
| UniProt ID | Q969S0 |
| OMIM ID | 613245 |
| HGNC ID | 20605 |
| Aliases | DKFZp686B16125, FLJ20793, MGC117188, SLC35B4 |
Description
SLC35B4 encodes a member of the solute carrier family 35 (SLC35) of nucleotide sugar transporters. The protein localizes to the Golgi apparatus and endoplasmic reticulum and mediates the transport of UDP-xylose and UDP-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of these organelles, where they are utilized as substrates for glycosylation reactions. SLC35B4 is essential for proteoglycan and glycoprotein biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Defective UDP-xylose/UDP-GlcNAc transport leads to impaired glycosylation; loss-of-function mutations cause a CDG-like phenotype. | PMID: 23541340 |
| Cancer (general) | Altered expression of SLC35B4 may affect tumor glycosylation and metastasis; overexpression observed in certain cancers. | COSMIC, TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Kidney | 6.5 | Medium |
| Pancreas | 5.1 | Low |
| Brain | 3.8 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.8 | Hepatocellular carcinoma cell line |
| HEK 293 | 6.1 | Embryonic kidney cells |
| HeLa | 4.5 | Cervical adenocarcinoma cells |
| A549 | 3.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.632C>T (p.Thr211Met) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in SLC35B4 impair UDP-xylose/UDP-GlcNAc transport, leading to defective glycosylation and congenital disorders of glycosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • UDP-xylose transmembrane transporter activity (GO:0005459) | • UDP-N-acetylglucosamine transmembrane transporter activity (GO:0015165) |
| • Golgi apparatus (GO:0005794) | • endoplasmic reticulum (GO:0005783) |
| • UDP-xylose transport (GO:0015781) | • UDP-N-acetylglucosamine transport (GO:0015782) |
Pathways
• Nucleotide sugar transport (R-HSA-425407)
• Glycosaminoglycan biosynthesis (R-HSA-1630316)
• N-glycan biosynthesis (R-HSA-446203)
Protein Summary
The SLC35B4 protein is a multi-pass transmembrane protein with 10 predicted transmembrane domains. It functions as an antiporter, exchanging UDP-xylose or UDP-GlcNAc with UMP. The protein is essential for the supply of nucleotide sugars to the Golgi and ER for glycosylation. Defects in this transporter lead to abnormal glycosylation patterns associated with disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35B4 Knockout HEK293 Cell Line | EDJ-KQ10250 | Human | 84912 | Details Get a Quote |
| SLC35B4 Knockout A-549 Cell Line | EDJ-KQ37462 | Human | 84912 | Details Get a Quote |
| SLC35B4 Knockout HCT 116 Cell Line | EDJ-KQ37463 | Human | 84912 | Details Get a Quote |
| SLC35B4 Knockout HeLa Cell Line | EDJ-KQ37464 | Human | 84912 | Details Get a Quote |
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