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FLASH GENE
Symbol ADSS1 contributors: mct - updated : 07-04-2021
HGNC name adenylosuccinate synthase 1
HGNC id 20093
Corresponding disease
MPD5 myopathy, distal, 5
Location 14q32.33      Physical location : -
Synonym name
  • adenylosuccinate synthase like 1
  • AMPSase 1
  • IMP--aspartate ligase 1
  • Synonym symbol(s) FLJ38602, ADSSL1, MPD5
    EC.number 6.3.4.4
    DNA
    TYPE functioning gene
    STRUCTURE 23.12 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1723 50 457 - 2005 15786719
    13 - 1884 - 500 - 2005 15786719
    13 - 1867 - 252 - 2005 15786719
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   predominantly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Muscularstriatumskeletal predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine AdSS1, muscular
    Homologene
    FAMILY adenylosuccinate synthetase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • playing an important role in the de novo pathway of purine nucleotide biosynthesis
  • adenylosuccinate synthase and ligase activity
  • playing a potential role in muscle metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    pathway of purine nucleotide biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • magnesium ion binding
  • GTP ion binding
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MPD5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    is a novel somatic alteration in lung carcinogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS