CHST5: Carbohydrate Sulfotransferase 5
Gene encoding an enzyme involved in heparan sulfate biosynthesis and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | CHST5 |
|---|---|
| Full Name | Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 23563 ncbi.nlm.nih.gov/gene/23563 |
| Ensembl ID | ENSG00000135744 |
| UniProt ID | Q9GZS9 |
| OMIM ID | 604817 |
| HGNC ID | 1971 |
| Aliases | GST-5, I-GlcNAc-6-ST, I-GST-5, N-acetylglucosamine 6-O-sulfotransferase 5 |
Description
CHST5 encodes a member of the carbohydrate sulfotransferase family. The enzyme catalyzes the transfer of sulfate to N-acetylglucosamine residues in keratan sulfate and heparan sulfate, playing a role in the biosynthesis of sulfated glycosaminoglycans. These modifications are critical for cell signaling, adhesion, and extracellular matrix interactions. CHST5 is expressed in various tissues, with highest levels in the gastrointestinal tract and thyroid.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered sulfation of heparan sulfate proteoglycans may affect growth factor signaling and tumor progression. | COSMIC; PMID: 23563181 |
| Thyroid carcinoma | Differential expression of CHST5 in thyroid tumors suggests a role in tumor biology. | NCBI Gene; PMID: 20601953 |
| Developmental disorders | Rare variants in CHST5 have been associated with syndromic features, though evidence is limited. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Stomach | 8.9 | Medium |
| Small intestine | 7.6 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon) | 15.3 | Colorectal adenocarcinoma cell line |
| HT-29 (colon) | 11.8 | Colorectal adenocarcinoma cell line |
| MCF7 (breast) | 0.5 | Low expression |
| HeLa (cervix) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% (gnomAD) | Unknown functional effect; reported in ClinVar as variant of uncertain significance |
| c.1246G>A (p.Gly416Arg) | Missense | 0.005% (gnomAD) | Predicted damaging by SIFT; associated with developmental delay in one case |
| c.1489_1490del (p.Leu497ValfsTer3) | Frameshift | Rare | Loss of function; reported in COSMIC in colorectal cancer sample |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu497ValfsTer3) are predicted to cause loss of enzyme activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CHST5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CHST5.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • Golgi apparatus (GO:0005794) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015014) | • peptide cross-linking (GO:0018149) |
| • glycosaminoglycan metabolic process (GO:0030203) |
Pathways
• Heparan sulfate/heparin biosynthesis (Reactome: R-HSA-2022928)
• Keratan sulfate biosynthesis (Reactome: R-HSA-2022857)
• Sulfation of glycosaminoglycans (KEGG: map00532)
Protein Summary
CHST5 is a Golgi-resident sulfotransferase that transfers sulfate to position 6 of N-acetylglucosamine in keratan sulfate and heparan sulfate. The protein contains a single transmembrane domain and a conserved sulfotransferase domain. It is essential for the proper sulfation pattern of glycosaminoglycans, influencing cell surface interactions and signaling. Structural studies are limited, but homology models suggest a typical PAPS-binding fold.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST5 Knockout HEK293 Cell Line | EDJ-KQ8072 | Human | 23563 | Details Get a Quote |
| CHST5 Knockout HeLa Cell Line | EDJ-KQ55771 | Human | 23563 | Details Get a Quote |
| CHST5 Knockout A-549 Cell Line | EDJ-KQ64266 | Human | 23563 | Details Get a Quote |
| CHST5 Knockout HCT 116 Cell Line | EDJ-KQ72713 | Human | 23563 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
