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FLASH GENE
Symbol ASS1 contributors: mct - updated : 11-09-2014
HGNC name argininosuccinate synthetase 1
HGNC id 758
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