ASS1 Gene Summary [Human]
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Details
| Type | Protein Coding |
| Official Symbol | ASS1 |
| Official Name | argininosuccinate synthase 1 [Source:HGNC Symbol;Acc:HGNC:758] |
| Ensembl ID | ENSG00000130707 |
| Bio databases IDs | |
| Aliases | argininosuccinate synthase 1 |
| Synonyms | ARGININOSUCCINATE SYNTHASE, argininosuccinate synthase 1, argininosuccinate synthetase 1, Argininosuccinyl Synthetase, ASS, ASSA, CN, CTLN1, fold |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ASS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- argininosuccinate synthase
- enzyme
- protein binding
- identical protein binding
- Adenine nucleotide alpha hydrolase (AANH) superfamily
- toxin binding
- amino acid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- citrullinemia
- citrullinemia type I
- urothelial bladder carcinoma
- transitional cell bladder cancer
- prostate cancer
- liver cancer
- glioblastoma
- breast cancer
- hereditary disorder
role in cell
- phosphorylation in
- apoptosis
- expression in
- proliferation
- survival
- erastin sensitivity
- binding in
- upregulation in
- transactivation in
- carboxylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- detergent resistant lipid raft fraction
- Endoplasmic Reticulum
- Mitochondria
- cytosol
- mitochondrial outer membrane
- nucleoplasm
- neurites
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ASS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of nitric oxide biosynthetic process
- response to zinc ion
- midgut development
- response to xenobiotic stimulus
- cellular response to amino acid stimulus
- cellular response to glucagon stimulus
- kidney development
- liver development
- cellular response to laminar fluid shear stress
- cellular response to tumor necrosis factor
- cellular response to amine stimulus
- aspartate metabolic process
- response to growth hormone stimulus
- response to nutrient
- diaphragm development
- circadian rhythm
- acute-phase response
- argininosuccinate metabolic process
- arginine biosynthetic process
- citrulline metabolic process
- cellular response to lipopolysaccharide
- urea cycle
- cellular response to ammonium ion
- cellular response to cAMP
- response to estradiol stimulus
- cellular response to oleic acid
- cellular response to interferon-gamma
- response to mycotoxin
- cellular response to dexamethasone stimulus
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- cell body fiber
- cytosol
- perikaryon
- mitochondrial outer membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- toxin binding
- ATP binding
- identical protein binding
- RNA binding
- protein binding
- argininosuccinate synthase activity
- amino acid binding