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FLASH GENE
Symbol UBIAD1 contributors: mct/npt/shn - updated : 30-06-2016
HGNC name UbiA prenyltransferase domain containing 1
HGNC id 30791
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Mus musculus
Endocrinepancreas   highly Mus musculus
Nervousbrain     Mus musculus
Urinarykidney     Mus musculus
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/lininguroepithelium  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text Lens, eye anterior segment, optic nerve, retina, foveal, macular, RPE and Choroid
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a prenyl-transferase domain
  • several transmembrane helices
  • HOMOLOGY
    interspecies ortholog to Ubiad1, Mus musculus
    ortholog to Ubiad1, Rattus norvegicus
    ortholog to ubiad1, Danio rerio
    ortholog to UBIAD1, Pan troglodytes
    Homologene
    FAMILY
  • UBIA prenyltransferase family
  • CATEGORY regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text
  • may be transported from the endoplasmic reticulum (ER) to the Golgi by a COPII-mediated mechanism
  • basic FUNCTION
  • a potential role for this gene product in the progression of bladder cancer
  • playing a significant role in prostate cancer growth regulation
  • play a role in bladder tumor growth regulation
  • may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage
  • a human Menaquinone-4 biosynthetic enzyme
  • catalyzes menaquinone synthesis, known to affect cholesterol homeostasis
  • is a nonmitochondrial COQ10-forming enzyme with specific cardiovascular protective function via the modulation of NOS3 activity
  • functions cell-autonomously to regulate endothelial cell survival and maintain vascular homeostasis
  • essential role for UBIAD1-generated vitamin K2 to maintain endothelial cell survival and overall vascular homeostasis
  • plays a pivotal role in embryonic development by synthesizing vitamin K2, but may have additional functions beyond the biosynthesis of vitamin K2
  • plays a significant role in vitamin K2 (MK-4) synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact physically with apolipoprotein E (interaction between apolipoprotein E and UBIAD1 with a possible association with bladder tumor formation) (McGarvey 2005)
  • is a nonmitochondrial prenyltransferase that synthesizes CoQ10 in the Golgi membrane compartment
  • interaction between UBIAD1 and TBL2 proteins (UBIAD1 was localized to both mitochondrial and non-mitochondrial membranes whereas TBL2 was predominantly mitochondrial)
  • elusive target of geranylgeraniol in reductase degradation, the inhibition of which may contribute to accumulation of cholesterol in Schnyder corneal dystrophy (SCD)
  • stabilization of HMGCR by UBIAD1 increases cholesterol biosynthesis and eventually causes cholesterol accumulation in the cornea
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCCD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in muscle invasive transitional cell carcinoma, in bladder cancer (in progression) and in prostate carcinoma in progression
    tumoral     --low  
    in invasive bladder cancer may represent a defect in menaquinone-mediated cholesterol homeostasis that contributes to progression
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • short interfering RNA against the UBIAD1 gene inhibited the conversion of deuterium-labelled vitamin K derivatives into deuterium-labelled-Menaquinone-4 in human cells