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FLASH GENE
Symbol ASS1 contributors: mct - updated : 11-09-2014
HGNC name argininosuccinate synthetase 1
HGNC id 758
Corresponding disease
CTLN1 citrullinemia, type I
Location 9q34.11      Physical location : 133.320.093 - 133.376.660
Synonym name
  • argininosuccinate synthetase
  • citrulline--aspartate ligase
  • Synonym symbol(s) ASS, ASSY, ASS, CTLN1
    EC.number 6.3.4.5
    DNA
    TYPE functioning gene
    STRUCTURE 56.57 kb     15 Exon(s)
    regulatory sequence Promoter
    Binding site   cAMP
    text structure 10 kb upstream of the transcription start site, a cAMP response element (CRE) highly conserved among mammals ( liver-specific enhancement of gene expression is mediated in part by the cAMP signaling pathway through a distal CRE site) (Guei 2008)
    MAPPING cloned Y linked Y status confirmed
    Map cen - D9S109 - D9S59 - D9S170 - D9S154 - D9S315 - ASS1 - D9S149 - D9S66 - D9S67 - qter
    Authors Brown (95)
    Text see ABL1
    RNA
    TRANSCRIPTS type messenger
    text Two transcript variants encoding the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 1863 - 412 - Bock
    15 splicing 1801 - 412 - Bock
    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