ASS1

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]

Full Name

Argininosuccinate Synthase 1

Function

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.

Biological Process

Acute-phase response Source: Ensembl
Aging Source: Ensembl
Arginine biosynthetic process Source: UniProtKB
Argininosuccinate metabolic process Source: BHF-UCL
Aspartate metabolic process Source: BHF-UCL
Cellular response to amine stimulus Source: Ensembl
Cellular response to amino acid stimulus Source: Ensembl
Cellular response to ammonium ion Source: Ensembl
Cellular response to cAMP Source: Ensembl
Cellular response to dexamethasone stimulus Source: Ensembl
Cellular response to glucagon stimulus Source: Ensembl
Cellular response to interferon-gamma Source: Ensembl
Cellular response to laminar fluid shear stress Source: BHF-UCL
Cellular response to lipopolysaccharide Source: Ensembl
Cellular response to oleic acid Source: Ensembl
Cellular response to tumor necrosis factor Source: Ensembl
Circadian rhythm Source: UniProtKB
Citrulline metabolic process Source: BHF-UCL
Diaphragm development Source: Ensembl
Kidney development Source: Ensembl
Liver development Source: Ensembl
Midgut development Source: Ensembl
Negative regulation of leukocyte cell-cell adhesion Source: BHF-UCL
Positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
Response to drug Source: Ensembl
Response to estradiol Source: Ensembl
Response to growth hormone Source: Ensembl
Response to mycotoxin Source: Ensembl
Response to nutrient Source: Ensembl
Response to zinc ion Source: Ensembl
Urea cycle Source: UniProtKB

Cellular Location

Cytosol

Involvement in disease

Citrullinemia 1 (CTLN1): The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood.

PTM

Acetylated by CLOCK in a circadian manner which negatively regulates its enzyme activity. Deacetylated by histone deacetylases.