CHST1: Carbohydrate Sulfotransferase 1
Gene encoding a sulfotransferase involved in keratan sulfate biosynthesis and potential roles in cancer and development.
Gene Information Card
| Symbol | CHST1 |
|---|---|
| Full Name | Carbohydrate sulfotransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 8534 ncbi.nlm.nih.gov/gene/8534 |
| Ensembl ID | ENSG00000175264 |
| UniProt ID | Q9GZX9 |
| OMIM ID | 603797 |
| HGNC ID | 1970 |
| Aliases | KSGal6ST, GST-1, KS6ST |
Description
CHST1 encodes a Golgi membrane sulfotransferase that catalyzes the transfer of sulfate to the C-6 position of galactose residues in keratan sulfate. This enzyme is essential for the biosynthesis of keratan sulfate, a glycosaminoglycan found in cornea, cartilage, and brain. CHST1 expression is implicated in cell adhesion, migration, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Macular Corneal Dystrophy | Deficiency in keratan sulfate sulfation due to CHST1 mutations leads to corneal opacification. | OMIM #603797; ClinVar |
| Colorectal Cancer | Overexpression of CHST1 promotes tumor cell migration and invasion via altered sulfation. | COSMIC; PubMed studies |
| Breast Cancer | CHST1 upregulation correlates with poor prognosis and metastatic potential. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | 12.5 | High |
| Brain | 8.3 | Medium |
| Cartilage | 6.7 | Medium |
| Colon | 4.2 | Low |
| Breast | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | High expression in recombinant systems |
| HCT116 | 7.5 | Colorectal cancer cell line |
| MCF7 | 5.2 | Breast cancer cell line |
| SH-SY5Y | 4.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | Rare | Loss of sulfotransferase activity; associated with macular corneal dystrophy |
| c.287G>A (p.Gly96Asp) | Missense | Rare | Reduced enzyme function; corneal phenotype |
| c.544A>G (p.Asn182Asp) | Missense | Unknown | Potential gain-of-function in cancer cell lines |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg34Trp and p.Gly96Asp reduce or abolish sulfotransferase activity, leading to keratan sulfate undersulfation and corneal dystrophy.
Gain of Function (GOF)
p.Asn182Asp may enhance sulfation activity, potentially promoting tumor cell migration in colorectal cancer.
Dominant Negative (DN)
No dominant-negative mutations reported for CHST1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Keratan sulfate biosynthesis (Reactome: R-HSA-2022857)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
CHST1 is a type II transmembrane protein localized to the Golgi apparatus. It contains a sulfotransferase domain that transfers sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to galactose residues in keratan sulfate. The protein is critical for corneal transparency and cartilage integrity. Altered expression is linked to cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST14 Knockout HEK293 Cell Line | EDJ-KQ2054 | Human | 113189 | Details Get a Quote |
| CHST1 Knockout HEK293 Cell Line | EDJ-KQ6274 | Human | 8534 | Details Get a Quote |
| CHST10 Knockout HEK293 Cell Line | EDJ-KQ6605 | Human | 9486 | Details Get a Quote |
| CHST11 Knockout HEK293 Cell Line | EDJ-KQ10766 | Human | 50515 | Details Get a Quote |
| CHST15 Knockout HEK293 Cell Line | EDJ-KQ11070 | Human | 51363 | Details Get a Quote |
| CHST12 Knockout HEK293 Cell Line | EDJ-KQ12920 | Human | 55501 | Details Get a Quote |
| CHST13 Knockout HEK293 Cell Line | EDJ-KQ12921 | Human | 166012 | Details Get a Quote |
| CHST15 Knockout HCT 116 Cell Line | EDJ-KQ38990 | Human | 51363 | Details Get a Quote |
| CHST15 Knockout HeLa Cell Line | EDJ-KQ38991 | Human | 51363 | Details Get a Quote |
| CHST12 Knockout A-549 Cell Line | EDJ-KQ42125 | Human | 55501 | Details Get a Quote |
| CHST12 Knockout HCT 116 Cell Line | EDJ-KQ42126 | Human | 55501 | Details Get a Quote |
| CHST12 Knockout HeLa Cell Line | EDJ-KQ42127 | Human | 55501 | Details Get a Quote |
| CHST13 Knockout HeLa Cell Line | EDJ-KQ42128 | Human | 166012 | 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 |
Displaying Records 1 To 15 Of 28 Records
