ADSS1 Gene - Adenylosuccinate Synthase 1
Key enzyme in purine nucleotide biosynthesis and muscle function
Gene Information Card
| Symbol | ADSS1 |
|---|---|
| Full Name | Adenylosuccinate Synthase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 122622 ncbi.nlm.nih.gov/gene/122622 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N142 |
| OMIM ID | 612498 |
| HGNC ID | 28556 |
| Aliases | AMPSD1, ADSS, ADSS1L |
Description
ADSS1 encodes adenylosuccinate synthase 1, an enzyme that catalyzes the first committed step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP), a critical reaction in purine nucleotide biosynthesis. This enzyme is predominantly expressed in skeletal and cardiac muscle, where it plays a role in energy metabolism and nucleotide pool maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, distal, with rimmed vacuoles (DMRV) | Loss-of-function mutations in ADSS1 impair AMP synthesis, leading to muscle fiber degeneration and rimmed vacuole formation. | ClinVar, OMIM |
| Adenylosuccinate synthase deficiency | Deficient enzyme activity disrupts purine nucleotide balance, causing muscle weakness and atrophy. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart muscle | 32.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 55.0 | High expression |
| Cardiomyocytes | 30.5 | Moderate expression |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.910C>T (p.Arg304Trp) | Missense | Rare | Loss of enzyme function |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired catalytic activity |
| c.1366C>T (p.Arg456*) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations reduce or abolish adenylosuccinate synthase activity, leading to AMP deficiency and muscle pathology.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • adenylosuccinate synthase activity (GO:0004019) | • purine nucleotide biosynthetic process (GO:0006164) |
| • ATP binding (GO:0005524) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) |
Pathways
• Purine metabolism (KEGG: hsa00230)
• AMP biosynthesis via IMP (Reactome: R-HSA-73817)
Protein Summary
The ADSS1 protein is a homodimeric enzyme that catalyzes the GTP-dependent conversion of IMP and aspartate to adenylosuccinate, a precursor of AMP. It is essential for maintaining adenine nucleotide levels in muscle tissues, where energy demand is high. Structural studies reveal a conserved active site with residues critical for substrate binding and catalysis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADSS1 Knockout HEK293 Cell Line | EDJ-KQ8157 | Human | 122622 | Details Get a Quote |
| ADSS1 Knockout A-549 Cell Line | EDJ-KQ34069 | Human | 122622 | Details Get a Quote |
| ADSS1 Knockout HCT 116 Cell Line | EDJ-KQ34070 | Human | 122622 | Details Get a Quote |
| ADSS1 Knockout HeLa Cell Line | EDJ-KQ32730 | Human | 122622 | Details Get a Quote |
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