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.

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 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
Displaying Records 1 To 4 Of 4 Records
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