CHST8: Carbohydrate Sulfotransferase 8

Gene encoding a Golgi enzyme involved in proteoglycan sulfation and neuroendocrine function

Gene Information Card

Symbol CHST8
Full Name Carbohydrate Sulfotransferase 8
Gene Type protein-coding
Chromosomal Location 19q13.11
NCBI Gene ID 64377 ncbi.nlm.nih.gov/gene/64377
Ensembl ID ENSG00000104879
UniProt ID Q9H2A9
OMIM ID 610191
HGNC ID 19325
Aliases GALNAC4ST1, GalNAc4-ST1, MGC138207

Description

CHST8 encodes a Golgi membrane-bound sulfotransferase that catalyzes the transfer of sulfate to the C4 hydroxyl of N-acetylgalactosamine (GalNAc) residues on chondroitin sulfate and dermatan sulfate. This enzyme is critical for the biosynthesis of sulfated proteoglycans, influencing cell signaling, extracellular matrix organization, and neuroendocrine function. CHST8 is highly expressed in the pituitary gland and brain.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Pituitary adenoma Altered CHST8 expression affects sulfation of glycoproteins, potentially influencing hormone secretion and tumor growth PMID: 23468642
Colorectal cancer CHST8 downregulation correlates with poor prognosis; loss of sulfation may promote tumor invasion PMID: 25695632
Breast cancer CHST8 methylation and reduced expression associated with aggressive subtypes PMID: 27562873

Expression Profile

Tissue Expression
Tissue nTPM level
Pituitary gland 48.2 High
Cerebral cortex 12.5 Medium
Cerebellum 8.9 Medium
Adrenal gland 6.1 Low
Liver 1.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
HeLa 5.4 Cervical cancer cell line
SH-SY5Y 12.1 Neuroblastoma cell line
MCF7 2.8 Breast cancer cell line
HepG2 1.1 Hepatocellular carcinoma cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1015C>T (p.Arg339Trp) Missense <0.01% Unknown functional effect; rare population variant
c.1246G>A (p.Gly416Ser) Missense <0.01% Predicted damaging by in silico tools
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No gain-of-function mutations described.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

Chondroitin sulfate / dermatan sulfate biosynthesis (Reactome: R-HSA-1793185)
Glycosaminoglycan metabolism (KEGG: hsa00532)

Protein Summary

CHST8 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 GalNAc residues. The enzyme is essential for the formation of chondroitin sulfate and dermatan sulfate chains, which are key components of proteoglycans involved in cell adhesion, migration, and signaling. CHST8 expression is particularly high in the pituitary, suggesting a role in neuroendocrine regulation.

Related Products

Product name Cat.No. Species Gene ID
CHST8 Knockout HEK293 Cell Line EDJ-KQ12919 Human 64377 Details Get a Quote
CHST8 Knockout HeLa Cell Line EDJ-KQ42124 Human 64377 Details Get a Quote
CHST8 Knockout A-549 Cell Line EDJ-KQ65561 Human 64377 Details Get a Quote
CHST8 Knockout HCT 116 Cell Line EDJ-KQ73991 Human 64377 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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