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FLASH GENE
Symbol CTPS1 contributors: mct/ - updated : 04-09-2017
HGNC name CTP synthase 1
HGNC id 2519
Corresponding disease
IMD24 Immunodeficiency 24
Location 1p34.2      Physical location : -
Synonym name
  • cytidine 5-prime triphosphate synthetase
  • cytidine triphosphate (CTP) synthase
  • UTP--ammonia ligase 1
  • cytidine 5-prime triphosphate synthetase
    • Synonym symbol(s) CTPS, GATD5, IMD24
    EC.number 6.3.4.2
    DNA
    TYPE functioning gene
    STRUCTURE 33.27 kb     19 Exon(s)
    text structure multiple initial sites
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3217 67 591 - 2000 10899599
    15 - 2412 - 435 - 2000 10899599
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two domains, a synthetase domain and a glutamine amidotransferase (GAT) domain
  • several phosphorylation sites to the C-terminus, including the site for GSK3A and GSK3B phosphorylation
    • HOMOLOGY
    Homologene
    FAMILY
  • glutamine amidotransferase class-I family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • cytidine triphosphate (CTP) synthase,converting uridine triphosphate (GTP) to CTP
  • rate-limiting enzyme in de novo CTP synthesis and is required for the formation of RNA, DNA, and phospholipids
  • bifunctional member of the bacterial cytoskeleton and suggest that localization and polymerization may be important properties of metabolic enzymes
  • CTPS1 and IMPDH2, are key enzymes in CTP and GTP biosynthesis
  • specific role of CTPS1 in the immune system by its capacity to sustain the proliferation of activated lymphocytes during the immune response
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism drug , purine/pyrimidine
    signaling
    last step of pyrimidine biosynthesis glycerophospholipids and nucleic acids
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacted with a GST- peptidyl prolyl isomerase, PIN1 fusion (GST-PIN1) in a Ser 575 (S575) phosphorylation-dependent manner
  • also bound tubulin
    • cell & other
    REGULATION
    Other phosphorylated by glycogen synthase kinase 3 (GSK3A and GSK3B) in response to low serum
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD24
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS