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
DNA
TYPE functioning gene
STRUCTURE 17.70 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text the predominant transcripts in human retina are the result of alternate splicing and alternate start sites of translation, significantly different from those of other tissues and encoding distinct proteins
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 28625 - 599 - 2008 18974094
15 - 2517 60.4 563 - 2008 18974094
16 - 2595 63.3 589 - 2008 18974094
16 - 2526 60.9 566 - 2008 18974094
13 - 2320 - 489 - 2008 18974094
- - 2380 - 509 - 2008 18974094
- - 2395 - 514 - 2008 18974094
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 (