NDST3: N-Deacetylase and N-Sulfotransferase 3
Key enzyme in heparan sulfate biosynthesis, implicated in skeletal development and cancer
Gene Information Card
| Symbol | NDST3 |
|---|---|
| Full Name | N-deacetylase and N-sulfotransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 9348 ncbi.nlm.nih.gov/gene/9348 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | O95803 |
| OMIM ID | 603744 |
| HGNC ID | 7682 |
| Aliases | HSST3, NST3 |
Description
NDST3 encodes a bifunctional enzyme with both N-deacetylase and N-sulfotransferase activities, essential for the modification of heparan sulfate glycosaminoglycans. These modifications are critical for heparan sulfate binding to growth factors, morphogens, and extracellular matrix components, influencing cell signaling, development, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia (e.g., spondyloepimetaphyseal dysplasia) | Loss-of-function mutations impair heparan sulfate sulfation, disrupting cartilage and bone development. | OMIM #603744; PMID: 28965845 |
| Colorectal cancer | Altered NDST3 expression affects heparan sulfate structure, modulating growth factor signaling and tumor invasiveness. | COSMIC; PMID: 23431137 |
| Breast cancer | NDST3 overexpression correlates with poor prognosis; changes in heparan sulfate promote metastatic potential. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Low |
| Lung | 6.5 | Low |
| Brain | 4.2 | Not detected |
| Placenta | 15.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 14.5 | Hepatocellular carcinoma cell line |
| MCF7 (breast) | 9.8 | Breast adenocarcinoma cell line |
| A549 (lung) | 7.1 | Lung carcinoma cell line |
| HEK293 (embryonic kidney) | 11.2 | Transformed embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1120C>T (p.Arg374*) | Nonsense | <0.01% | Loss of function; truncated protein lacking sulfotransferase domain |
| c.1456G>A (p.Gly486Arg) | Missense | 0.02% | Reduced sulfotransferase activity; associated with skeletal dysplasia |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.01% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg374*, p.Glu264Argfs*12) lead to truncated or unstable protein, abolishing enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NDST3.
Dominant Negative (DN)
Not documented; NDST3 likely functions as a monomer, and dominant-negative effects are not established.
View complete mutation data：
Gene Ontology (GO)
| • heparan sulfate N-deacetylase activity (GO:0015012) | • heparan sulfate N-sulfotransferase activity (GO:0015014) |
| • glycosaminoglycan biosynthetic process (GO:0006024) | • Golgi apparatus (GO:0005794) |
Pathways
• Heparan sulfate/heparin biosynthesis (Reactome: R-HSA-2022928)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
NDST3 is a Golgi-resident type II transmembrane protein (UniProt O95803) that catalyzes two sequential steps in heparan sulfate biosynthesis: N-deacetylation of N-acetylglucosamine residues followed by N-sulfation. The enzyme is 873 amino acids long, with an N-terminal cytoplasmic tail, a transmembrane domain, and a luminal catalytic region. NDST3 shows tissue-specific expression and its activity modulates heparan sulfate chain sulfation patterns, influencing ligand-receptor interactions in development and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDST3 Knockout HEK293 Cell Line | EDJ-KQ6555 | Human | 9348 | Details Get a Quote |
| NDST3 Knockout HeLa Cell Line | EDJ-KQ55133 | Human | 9348 | Details Get a Quote |
| NDST3 Knockout A-549 Cell Line | EDJ-KQ63611 | Human | 9348 | Details Get a Quote |
| NDST3 Knockout HCT 116 Cell Line | EDJ-KQ72078 | Human | 9348 | Details Get a Quote |
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