CHST7: Carbohydrate Sulfotransferase 7
A key enzyme in heparan sulfate biosynthesis and chondroitin sulfate modification
Gene Information Card
| Symbol | CHST7 |
|---|---|
| Full Name | Carbohydrate Sulfotransferase 7 |
| Gene Type | Protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 56548 ncbi.nlm.nih.gov/gene/56548 |
| Ensembl ID | ENSG00000147119 |
| UniProt ID | Q9NS84 |
| OMIM ID | 300375 |
| HGNC ID | 1981 |
| Aliases | GST-5, C6ST-2, GlcNAc6ST-5 |
Description
CHST7 encodes a member of the carbohydrate sulfotransferase family. The enzyme catalyzes the transfer of sulfate to position 6 of N-acetylglucosamine and N-acetylgalactosamine residues in heparan sulfate and chondroitin sulfate, respectively. It plays a role in the biosynthesis of sulfated glycosaminoglycans, which are critical for cell signaling, development, and extracellular matrix interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain | 3.8 | Low |
| Colon | 4.1 | Low |
| Heart | 2.5 | Not detected |
| Kidney | 6.0 | Low |
| Liver | 1.9 | Not detected |
| Lung | 4.5 | Low |
| Muscle | 1.2 | Not detected |
| Ovary | 7.3 | Low |
| Pancreas | 3.0 | Low |
| Prostate | 5.8 | Low |
| Skin | 6.5 | Low |
| Spleen | 2.0 | Not detected |
| Testis | 8.1 | Low |
| Thyroid | 4.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.2 | Embryonic kidney cells |
| HeLa | 4.8 | Cervical cancer cells |
| K562 | 3.5 | Leukemia cells |
| MCF7 | 5.0 | Breast cancer cells |
| SH-SY5Y | 7.1 | Neuroblastoma cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.100C>T | Nonsense | 0.005% | p.Arg34*; premature stop, likely loss of function |
| c.200G>A | Missense | 0.02% | p.Arg67His; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg34*) likely result in truncated non-functional protein.
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)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • N-acetylglucosamine metabolic process (GO:0006044) |
| • sulfur compound metabolic process (GO:0006790) | • heparan sulfate proteoglycan biosynthetic process (GO:0015014) |
| • heparan sulfate sulfotransferase activity (GO:0015015) | • glycosaminoglycan metabolic process (GO:0030203) |
| • chondroitin sulfate biosynthetic process (GO:0030206) | • chondroitin sulfate proteoglycan biosynthetic process (GO:0050654) |
Pathways
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin (KEGG: hsa00534)
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate (KEGG: hsa00532)
• Sulfur metabolism (KEGG: hsa00920)
Protein Summary
The CHST7 protein (UniProt Q9NS84) is a type II transmembrane Golgi-resident sulfotransferase of 386 amino acids. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large luminal catalytic domain. The enzyme transfers sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the 6-hydroxyl group of N-acetylglucosamine and N-acetylgalactosamine in heparan sulfate and chondroitin sulfate. This modification is essential for the binding of growth factors, cytokines, and extracellular matrix components.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST7 Knockout HEK293 Cell Line | EDJ-KQ12918 | Human | 56548 | Details Get a Quote |
| CHST7 Knockout A-549 Cell Line | EDJ-KQ42121 | Human | 56548 | Details Get a Quote |
| CHST7 Knockout HCT 116 Cell Line | EDJ-KQ42122 | Human | 56548 | Details Get a Quote |
| CHST7 Knockout HeLa Cell Line | EDJ-KQ40869 | Human | 56548 | Details Get a Quote |
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