CHST14: Carbohydrate Sulfotransferase 14
Key enzyme in dermatan sulfate biosynthesis; associated with Ehlers-Danlos syndrome musculocontractural type 1
Gene Information Card
| Symbol | CHST14 |
|---|---|
| Full Name | Carbohydrate Sulfotransferase 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 113189 ncbi.nlm.nih.gov/gene/113189 |
| Ensembl ID | ENSG00000169105 |
| UniProt ID | Q8NCH0 |
| OMIM ID | 608429 |
| HGNC ID | 24464 |
| Aliases | D4ST1, Dermatan 4-sulfotransferase 1 |
Description
The CHST14 gene encodes dermatan 4-sulfotransferase 1 (D4ST1), an enzyme that catalyzes the transfer of sulfate to the C4 position of N-acetylgalactosamine residues in dermatan sulfate. This modification is essential for the proper assembly and function of dermatan sulfate proteoglycans, which are critical components of the extracellular matrix. Loss-of-function mutations in CHST14 cause Ehlers-Danlos syndrome musculocontractural type 1 (EDSMC1), a severe connective tissue disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome musculocontractural type 1 (EDSMC1) | Loss-of-function mutations in CHST14 impair dermatan sulfate biosynthesis, leading to defective extracellular matrix and connective tissue fragility. | OMIM #601776; multiple case reports and functional studies confirm causality. |
| Ehlers-Danlos syndrome progeroid type (formerly) | Some patients with CHST14 mutations were initially described as having progeroid EDS; now classified under EDSMC1. | Historical classification; OMIM #130070 (superseded). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 10.2 | Low |
| Fibroblasts | 8.5 | Low |
| Heart | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblast (primary) | 8.5 | Primary dermal fibroblasts; used in functional studies |
| HEK293 | 6.2 | Commonly used for recombinant expression |
| HeLa | 4.1 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | Rare (found in EDSMC1 patients) | Loss of function; reduced enzyme activity |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Loss of function; impaired sulfotransferase activity |
| c.656G>A (p.Arg219His) | Missense | Rare | Loss of function; destabilizes protein |
| c.766_767del (p.Val256fs) | Frameshift | Rare | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic CHST14 mutations are loss-of-function, leading to reduced or absent dermatan 4-sulfotransferase activity.
Gain of Function (GOF)
No gain-of-function mutations have been described for CHST14.
Dominant Negative (DN)
No dominant-negative effects reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosaminoglycan biosynthesis - dermatan sulfate (KEGG: hsa00532)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
Dermatan 4-sulfotransferase 1 (D4ST1) is a 376-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 C4 position of N-acetylgalactosamine residues in dermatan sulfate. This sulfation is critical for the formation of dermatan sulfate chains on proteoglycans such as decorin and biglycan, which regulate collagen fibrillogenesis and extracellular matrix integrity. Loss of D4ST1 activity results in undersulfated dermatan sulfate and leads to the severe connective tissue phenotype of EDSMC1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST14 Knockout HEK293 Cell Line | EDJ-KQ2054 | Human | 113189 | Details Get a Quote |
| CHST14 Knockout A-549 Cell Line | EDJ-KQ23485 | Human | 113189 | Details Get a Quote |
| CHST14 Knockout HCT 116 Cell Line | EDJ-KQ23487 | Human | 113189 | Details Get a Quote |
| CHST14 Knockout HeLa Cell Line | EDJ-KQ23488 | Human | 113189 | Details Get a Quote |
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