Description: Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 1, mRNA. RefSeq Summary (NM_000050): 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]. Transcript (Including UTRs) Position: hg19 chr9:133,320,094-133,376,661 Size: 56,568 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr9:133,327,616-133,376,408 Size: 48,793 Coding Exon Count: 14
ID:ASSY_HUMAN DESCRIPTION: RecName: Full=Argininosuccinate synthase; EC=6.3.4.5; AltName: Full=Citrulline--aspartate ligase; CATALYTIC ACTIVITY: ATP + L-citrulline + L-aspartate = AMP + diphosphate + N(omega)-(L-arginino)succinate. PATHWAY: Amino-acid biosynthesis; L-arginine biosynthesis; L- arginine from L-ornithine and carbamoyl phosphate: step 2/3. PATHWAY: Nitrogen metabolism; urea cycle; (N(omega)-L- arginino)succinate from L-aspartate and L-citrulline: step 1/1. SUBUNIT: Homotetramer. Interacts with NMRAL1. INTERACTION: P10398:ARAF; NbExp=4; IntAct=EBI-536842, EBI-365961; DISEASE: Defects in ASS1 are the cause of citrullinemia type 1 (CTLN1) [MIM:215700]. Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN1 usually manifests 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 CTLN1 form can develop later in childhood or adulthood. SIMILARITY: Belongs to the argininosuccinate synthase family. Type 1 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASS1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00966
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000050 urea cycle GO:0000052 citrulline metabolic process GO:0000053 argininosuccinate metabolic process GO:0001822 kidney development GO:0001889 liver development GO:0006526 arginine biosynthetic process GO:0006531 aspartate metabolic process GO:0006953 acute-phase response GO:0007494 midgut development GO:0007568 aging GO:0007584 response to nutrient GO:0007623 circadian rhythm GO:0008652 cellular amino acid biosynthetic process GO:0009636 response to toxic substance GO:0010043 response to zinc ion GO:0010046 response to mycotoxin GO:0014075 response to amine GO:0032355 response to estradiol GO:0032496 response to lipopolysaccharide GO:0042493 response to drug GO:0043200 response to amino acid GO:0043434 response to peptide hormone GO:0045429 positive regulation of nitric oxide biosynthetic process GO:0048545 response to steroid hormone GO:0051384 response to glucocorticoid GO:0060416 response to growth hormone GO:0060539 diaphragm development GO:0070542 response to fatty acid GO:0071222 cellular response to lipopolysaccharide GO:0071230 cellular response to amino acid stimulus GO:0071242 cellular response to ammonium ion GO:0071320 cellular response to cAMP GO:0071346 cellular response to interferon-gamma GO:0071356 cellular response to tumor necrosis factor GO:0071377 cellular response to glucagon stimulus GO:0071400 cellular response to oleic acid GO:0071418 cellular response to amine stimulus GO:0071499 cellular response to laminar fluid shear stress GO:0071549 cellular response to dexamethasone stimulus GO:1903038 negative regulation of leukocyte cell-cell adhesion
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