UST: Uronyl-2-Sulfotransferase Gene
Key Enzyme in Heparan Sulfate Biosynthesis and Chondroitin Sulfate Modification
Gene Information Card
| Symbol | UST |
|---|---|
| Full Name | Uronyl-2-Sulfotransferase |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q25.1 |
| NCBI Gene ID | 10090 ncbi.nlm.nih.gov/gene/10090 |
| Ensembl ID | ENSG00000111962 |
| UniProt ID | Q9Y2C2 |
| OMIM ID | 608891 |
| HGNC ID | 12523 |
| Aliases | CHST14, D4ST1, D4ST-1, D4S6ST, D4S6ST1, D4S6ST-1, D4S6ST-1A, D4S6ST-1B, D4S6ST-1C, D4S6ST-1D, D4S6ST-1E, D4S6ST-1F, D4S6ST-1G, D4S6ST-1H, D4S6ST-1I, D4S6ST-1J, D4S6ST-1K, D4S6ST-1L, D4S6ST-1M, D4S6ST-1N, D4S6ST-1O, D4S6ST-1P, D4S6ST-1Q, D4S6ST-1R, D4S6ST-1S, D4S6ST-1T, D4S6ST-1U, D4S6ST-1V, D4S6ST-1W, D4S6ST-1X, D4S6ST-1Y, D4S6ST-1Z |
Description
The UST gene encodes uronyl-2-sulfotransferase, an enzyme that catalyzes the transfer of sulfate to the 2-position of uronic acid residues in heparan sulfate and chondroitin sulfate. This modification is critical for the biological activity of these glycosaminoglycans, influencing cell signaling, growth factor binding, and extracellular matrix interactions. UST is expressed in various tissues and is implicated in developmental processes and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos Syndrome, Musculocontractural Type 1 (EDSMC1) | Loss-of-function mutations in UST impair dermatan sulfate biosynthesis, leading to connective tissue fragility and multisystem abnormalities. | ClinVar, OMIM |
| Multiple Myeloma | Altered UST expression may affect heparan sulfate sulfation patterns, influencing tumor cell adhesion and growth factor signaling. | COSMIC, NCBI |
| Colorectal Cancer | Somatic mutations and altered expression of UST have been reported, potentially affecting tumor microenvironment interactions. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Brain | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.2 | Embryonic kidney cells |
| A549 | 7.8 | Lung carcinoma cells |
| MCF7 | 5.4 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1019G>A (p.Arg340His) | Missense | Rare | Loss of sulfotransferase activity; associated with EDSMC1 |
| c.1246C>T (p.Arg416Trp) | Missense | Rare | Impaired enzyme function; reported in EDSMC1 |
| c.1337delC (p.Pro446LeufsTer5) | Frameshift | Rare | Truncated protein; loss of function in EDSMC1 |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in UST reduce or abolish sulfotransferase activity, leading to defective dermatan sulfate synthesis and Ehlers-Danlos syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for UST.
Dominant Negative (DN)
No dominant-negative mutations have been described for UST.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate (KEGG: hsa00532)
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin (KEGG: hsa00534)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
Uronyl-2-sulfotransferase (UniProt Q9Y2C2) is a 406-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the 2-position of uronic acid residues in heparan sulfate and chondroitin sulfate. This enzyme is essential for the formation of dermatan sulfate and for proper sulfation patterns that regulate growth factor signaling and extracellular matrix integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UST Knockout HEK293 Cell Line | EDJ-KQ6894 | Human | 10090 | Details Get a Quote |
| MUSTN1 Knockout HEK293 Cell Line | EDJ-KQ14337 | Human | 389125 | Details Get a Quote |
| MUSTN1 Knockout HCT 116 Cell Line | EDJ-KQ43211 | Human | 389125 | Details Get a Quote |
| MUSTN1 Knockout HeLa Cell Line | EDJ-KQ44448 | Human | 389125 | Details Get a Quote |
| UST Knockout HCT 116 Cell Line | EDJ-KQ31501 | Human | 10090 | Details Get a Quote |
| UST Knockout HeLa Cell Line | EDJ-KQ31502 | Human | 10090 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HEK293 Cell Line | EDJ-KQ52474 | Human | 100526772 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HeLa Cell Line | EDJ-KQ60937 | Human | 100526772 | Details Get a Quote |
| UST Knockout A-549 Cell Line | EDJ-KQ63799 | Human | 10090 | Details Get a Quote |
| MUSTN1 Knockout A-549 Cell Line | EDJ-KQ68531 | Human | 389125 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout A-549 Cell Line | EDJ-KQ69412 | Human | 100526772 | Details Get a Quote |
| STIMATE-MUSTN1 Knockout HCT 116 Cell Line | EDJ-KQ77763 | Human | 100526772 | Details Get a Quote |
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