Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol IMPDH1 contributors: mct/pgu - updated : 14-03-2015
HGNC name IMP (inosine monophosphate) dehydrogenase 1
HGNC id 6052
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticthymus    
Digestivemouthtongue  highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
Respiratorylung    
Visualeyeretina  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningendometrium  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
Visualcone photoreceptor
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
two CBS forming a stable globular domain
mono polymer homomer , tetramer
HOMOLOGY
intraspecies paralog to IMPDH2
Homologene
FAMILY IMPDH/GMPR family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,nucleus
text
  • inner segment and synaptic terminals of the photoreceptor
  • nuclear IMPDH1 accumulates during the G2 phase of the cell cycle or following replicative or oxidative stress
  • basic FUNCTION
  • catalyzing the rate limiting step of de novo guanine synthesis
  • important target for the development of drugs with both chemotherapeutic and immunosuppressive activity
  • playing an important role in cyclic nucleotide metabolism within photoreceptors
  • rate-limiting enzyme in the de novo biosynthesis pathway for guanine nucleotides (
  • has a function in the retina, apparently independent of its enzymatic activity, mediated by retina-specific variants
  • controls the guanine nucleotide pool and, thereby, cell proliferation
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein associated with polyribosomes containing rhodopsin mRNA
  • can couple the expression of histones and E2F to cellular state
  • cell & other
    REGULATION
    activated by TH
    inhibited by 17-AAG that is a potent inhibitor of mutant IMPDH1-induced apoptosis (
    ASSOCIATED DISORDERS
    corresponding disease(s) RP10 , LCA11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    development of malignancy and the growth progression of some tumors
    Susceptibility
  • to resistance to immunosuppressive drug, mycophenolic acid (MPA)
  • Variant & Polymorphism SNP increasing the risk of resistance to immunosuppressive drug, mycophenolic acid (MPA)(
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • 17-AAG is able to protect photoreceptor cells form degeneration in the RP10 mouse model by inducing heat shock proteins to reduce the formation of mutant Impdh1 aggregates (