ASNS
Asparagine Synthetase (Glutamine-Hydrolyzing)
Gene Information Card
| Symbol | ASNS |
|---|---|
| Full Name | Asparagine Synthetase (Glutamine-Hydrolyzing) |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 440 ncbi.nlm.nih.gov/gene/440 |
| Ensembl ID | ENSG00000070669 |
| UniProt ID | P08243 |
| OMIM ID | 108370 |
| HGNC ID | 753 |
| Aliases | TS11, ASNSD, ASNS1 |
Description
The ASNS gene encodes asparagine synthetase, an enzyme that catalyzes the biosynthesis of asparagine from aspartate and glutamine. This gene is essential for cellular asparagine production and is implicated in metabolic disorders and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asparagine Synthetase Deficiency | Loss-of-function mutations in ASNS impair asparagine biosynthesis, leading to severe neurological symptoms including microcephaly, seizures, and intellectual disability. | ClinVar, OMIM |
| Acute Lymphoblastic Leukemia (ALL) | Reduced ASNS expression in certain ALL subtypes correlates with sensitivity to asparaginase therapy, as leukemic cells rely on exogenous asparagine. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 22.3 | High |
| Salivary gland | 18.7 | High |
| Liver | 15.2 | Medium |
| Brain | 8.1 | Medium |
| Skeletal muscle | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 25.6 | High expression |
| HeLa | 18.3 | Moderate expression |
| K562 | 12.1 | Moderate expression |
| MCF7 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121C>T (p.Arg41*) | Nonsense | Rare | Loss of function; associated with ASNS deficiency |
| c.1648C>T (p.Arg550Cys) | Missense | Rare | Reduced enzyme activity; reported in ASNS deficiency |
| c.970G>A (p.Gly324Arg) | Missense | Rare | Impaired catalytic activity; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish asparagine synthetase activity, leading to ASNS deficiency.
Gain of Function (GOF)
Not reported for ASNS.
Dominant Negative (DN)
Not reported for ASNS.
View complete mutation data：
Gene Ontology (GO)
| • asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066) | • asparagine biosynthetic process (GO:0006529) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• Asparagine biosynthesis (Reactome: R-HSA-8978868)
• Metabolism of amino acids and derivatives (Reactome: R-HSA-71291)
Protein Summary
Asparagine synthetase (UniProt P08243) is a 561-amino acid enzyme that converts aspartate and glutamine to asparagine and glutamate in an ATP-dependent reaction. The protein is localized in the cytoplasm and is critical for maintaining asparagine homeostasis. Its expression is regulated by amino acid availability and stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASNSD1 Knockout HEK293 Cell Line | EDJ-KQ51370 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout HeLa Cell Line | EDJ-KQ56430 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout A-549 Cell Line | EDJ-KQ64925 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout HCT 116 Cell Line | EDJ-KQ73367 | Human | 54529 | Details Get a Quote |
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