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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
Corresponding disease
SCCD Schnyder cristalline corneal dystrophy
Location 1p36.22      Physical location : 11.333.254 - 11.348.490
Synonym name
  • transitional epithelia response protein
  • transitional epithelial response protein 1
  • ubiA prenyltransferase domain-containing protein
  • menaquinone-4 biosynthetic enzyme
    • Synonym symbol(s) TERE1, RP4-796F18.1, SCCD
    EC.number 2.5.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 15.24 kb     2 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • YY1 binds the UBIAD1 promoter
    • MAPPING cloned Y linked N status provisional
    Map pter - D1S2736 - D1S1635 - UBIAD1 - D1S2667 - D1S2740 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3687 - 338 - 2007 17962451
    reduced or absent staining in muscle invasive tumors (PMID: 11314041)
    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