CSGALNACT1: Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1
Key enzyme in glycosaminoglycan biosynthesis, involved in cartilage development and cancer
Gene Information Card
| Symbol | CSGALNACT1 |
|---|---|
| Full Name | Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 55790 ncbi.nlm.nih.gov/gene/55790 |
| Ensembl ID | ENSG00000147408 |
| UniProt ID | Q8TDX6 |
| OMIM ID | 610138 |
| HGNC ID | 24290 |
| Aliases | CSGalNAcT-1, ChGn-1, CSGALNACT1 |
Description
CSGALNACT1 encodes a type II transmembrane protein that functions as a chondroitin sulfate N-acetylgalactosaminyltransferase. This enzyme catalyzes the transfer of N-acetylgalactosamine (GalNAc) to glucuronic acid (GlcA) residues during chondroitin sulfate chain elongation, a critical step in glycosaminoglycan biosynthesis. Chondroitin sulfate proteoglycans are essential components of the extracellular matrix, particularly in cartilage, and play roles in cell signaling, adhesion, and migration. Mutations in CSGALNACT1 are associated with skeletal dysplasia and altered tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia (e.g., spondyloepimetaphyseal dysplasia) | Loss-of-function mutations impair chondroitin sulfate synthesis, disrupting cartilage extracellular matrix integrity | OMIM #610138, ClinVar |
| Osteoarthritis | Reduced CSGALNACT1 expression leads to abnormal proteoglycan composition in articular cartilage | NCBI Gene, literature |
| Colorectal cancer | Overexpression promotes tumor cell proliferation and metastasis via altered glycosaminoglycan signaling | COSMIC, literature |
| Breast cancer | Upregulation correlates with poor prognosis and enhanced invasive capacity | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | High |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 3.4 | Low |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SW480 (colon cancer) | 15.3 | High expression |
| MCF7 (breast cancer) | 10.7 | Medium expression |
| A549 (lung cancer) | 7.9 | Medium expression |
| HEK293 (embryonic kidney) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | <0.01% | Loss of function; associated with skeletal dysplasia |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Reduced enzyme activity; linked to osteoarthritis |
| c.1234A>G (p.Lys412Glu) | Missense | 0.02% | Gain of function; observed in colorectal cancer |
| c.1567_1569del (p.Phe523del) | In-frame deletion | <0.01% | Altered substrate specificity; reported in breast cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg339Ter, p.Gly248Arg) reduce or abolish transferase activity, impairing chondroitin sulfate synthesis and leading to skeletal dysplasia or osteoarthritis.
Gain of Function (GOF)
Missense mutations (e.g., p.Lys412Glu) enhance enzyme activity, promoting aberrant glycosaminoglycan elongation and tumor progression in colorectal and breast cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CSGALNACT1.
View complete mutation data：
Gene Ontology (GO)
| • acetylgalactosaminyltransferase activity (GO:0008376) | • chondroitin sulfate proteoglycan biosynthetic process (GO:0015016) |
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
| • carbohydrate metabolic process (GO:0005975) |
Pathways
• Chondroitin sulfate/dermatan sulfate biosynthesis (Reactome: R-HSA-1971475)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
• Proteoglycans in cancer (KEGG: hsa05205)
Protein Summary
CSGALNACT1 is a 532-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large luminal catalytic domain. The enzyme transfers GalNAc from UDP-GalNAc to the non-reducing end of chondroitin sulfate chains, using a metal ion-dependent mechanism. Its activity is essential for the elongation of chondroitin sulfate polymers, which are key components of proteoglycans in cartilage and other tissues. Dysregulation of CSGALNACT1 expression or function contributes to skeletal disorders and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSGALNACT1 Knockout HEK293 Cell Line | EDJ-KQ13013 | Human | 55790 | Details Get a Quote |
| CSGALNACT1 Knockout A-549 Cell Line | EDJ-KQ42271 | Human | 55790 | Details Get a Quote |
| CSGALNACT1 Knockout HCT 116 Cell Line | EDJ-KQ42272 | Human | 55790 | Details Get a Quote |
| CSGALNACT1 Knockout HeLa Cell Line | EDJ-KQ42273 | Human | 55790 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
