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FLASH GENE
Symbol ASS1 contributors: mct - updated : 11-09-2014
HGNC name argininosuccinate synthetase 1
HGNC id 758
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
arginosuccinate synthase motif
mono polymer homomer , tetramer
HOMOLOGY
interspecies homolog to murine Ass1
Homologene
FAMILY
  • argininosuccinate synthase family
  • type 1 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • rate-limiting enzyme in the urea cycle
  • metabolizing the ATP dependent binding of citrulline to aspartate
  • participates in metabolic processes including arginine biosynthesis and citrullineľNO cycle (Guei 2008)
  • expression of ASS1 harmonized with that of NOS3 may be important for the optimized endothelial NO production and the prevention of the inflammatory monocyte adhesion to endothelial cells
  • plays a role in maintaining anti-inflammatory microenvironments through enhancing NO production
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling sensory transduction/olfaction
    arginine biosynthetic pathways
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP
    protein
  • regulates the provision of l-arginine to nitric oxide synthase 3 (NOS3)
  • key regulatory role of KLF4 in the endothelial ASS1 expression and NO production in response to laminar shear stress
  • cell & other
    REGULATION
    activated by laminar shear stress increases the expression of ASS1 that regulates the provision of L-arginine, the substrate of NOS3
    induced by endothelial ASS1 expression was induced by laminar shear stress (LSS)
    ASSOCIATED DISORDERS
    corresponding disease(s) CTLN1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    either low in abundance or absent in breast cancer biosamples
    constitutional     --low  
    mRNA level of ASS1 in PKU patients was lower than that of normal people, which was well correlated with its methylation status
    tumoral     --low  
    in myxofibrosarcomas, with loss of expression linked to promoter methylation, and clinical aggressiveness
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    breast cancer could be candidate for arginine starvation therapy
    ANIMAL & CELL MODELS