UBIAD1 Antibody
Description
Introduction to UBIAD1 Antibody
The UBIAD1 antibody is a research tool designed to detect the UbiA prenyltransferase domain-containing protein 1 (UBIAD1), an enzyme involved in vitamin K2 (menaquinone-4) biosynthesis, cholesterol metabolism, and vascular cell regulation . UBIAD1 is localized to the endoplasmic reticulum (ER) and Golgi apparatus, where it modulates intracellular cholesterol levels and interacts with signaling pathways like Ras/ERK . The antibody is primarily used in Western blot (WB), immunofluorescence (IF), and immunoprecipitation (IP) to study UBIAD1’s role in diseases such as Schnyder’s corneal dystrophy, vascular calcification, and bladder cancer .
Research Applications
The UBIAD1 antibody has been instrumental in studying its biological roles:
Vascular Calcification and Cholesterol Metabolism
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Role in Cholesterol Regulation: UBIAD1 reduces intracellular cholesterol by upregulating ATP-binding cassette transporters (ABCA1) and downregulating sterol regulatory element-binding protein-2 (SREBP2) .
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Vascular Calcification: Elevated UBIAD1 or its product menaquinone-4 (MK-4) reduces alkaline phosphatase activity and matrix calcium in human vascular smooth muscle cells, inhibiting calcification .
Bladder Cancer and Ras Signaling
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Tumor Suppression: UBIAD1 suppresses bladder cancer cell proliferation by retaining H-Ras in the Golgi, inhibiting Ras/ERK signaling at the plasma membrane .
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Mechanism: Co-immunoprecipitation and bimolecular fluorescence complementation assays confirmed UBIAD1’s interaction with H-Ras, limiting its activation .
Schnyder’s Corneal Dystrophy (SCD)
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Defective MK-4 Biosynthesis: Mutant UBIAD1 variants (e.g., N102S, G177R) show reduced affinity for geranylgeranyl pyrophosphate (GGPP), impairing MK-4 synthesis and leading to cholesterol accumulation in the cornea .
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ER Retention: SCD-associated UBIAD1 mutants accumulate in the ER due to defective trafficking to the Golgi, exacerbating cholesterol dysregulation .
Subcellular Localization Studies
UBIAD1’s localization to the ER and Golgi is critical for its enzymatic activity:
Clinical and Diagnostic Relevance
While not yet clinically approved, UBIAD1 antibodies hold potential for research into:
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Vascular Diseases: Monitoring UBIAD1 expression in chronic kidney disease to predict calcification risk .
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Ophthalmology: Diagnosing Schnyder’s corneal dystrophy via MK-4 deficiency assays .
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Oncology: Investigating UBIAD1’s tumor suppressor role in bladder cancer .
Technical Considerations
Product Specs
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Target Background
- The novel p.Thr120Arg variant, the fourth identified Schnyder corneal dystrophy-causing mutation within the FARM motif of the UBIAD1 protein, highlights the significance of this motif in the pathogenesis of SCD. PMID: 30084067
- While de novo mutations in UBIAD1 are exceedingly rare, SCD should be considered in the differential diagnosis of bilateral corneal haze and/or crystal deposition, particularly in children. PMID: 30223810
- Silencing UBIAD1 exacerbates the adverse effects induced by Ang II, suggesting that normal or elevated UBIAD1 levels may offer protection against Ang II-induced hypertrophic response and apoptosis. PMID: 28901410
- These findings reveal a novel sensing mechanism that enables stringent metabolic control of intracellular trafficking of UBIAD1, directly modulating reductase degradation, which becomes disrupted in Schnyder corneal dystrophy (SCD). PMID: 27121042
- UBIAD1 or menaquinone-4 may reduce vascular cell differentiation and calcification, potentially through its potent role in regulating cellular cholesterol levels. PMID: 26890002
- The conserved domain I serves as a substrate recognition site that undergoes a structural change upon substrate binding. PMID: 25874989
- Data indicate that sterols stimulate the binding of prenyltransferase UBIAD1 to HMG CoA reductase, which undergoes sterol-accelerated, endoplasmic reticulum (ER)-associated degradation enhanced by the nonsterol isoprenoid geranylgeraniol. PMID: 25742604
- Results suggest that YY1 upregulates UBIAD1 expression and UBIAD1 conversion activity through the UBIAD1 promoter. PMID: 25772619
- N102S may also be a mutation hotspot in the Polish population, as observed in other previously studied populations. PMID: 24608252
- Golgi localization of UBIAD1 influences its tumor suppressor activity. PMID: 23977195
- Loss of TERE1 may contribute to the altered lipid metabolic phenotype associated with progression in renal clear cell carcinoma through an uncoupling of reactive oxygen species/nitric oxide and SXR signaling from apoptosis by elevating cholesterol levels. PMID: 23759948
- UBIAD1 physically associates with enzymes involved in cholesterol synthesis and storage, providing direct connections between UBIAD1 and cholesterol metabolism that are likely relevant to the disease pathology of Schnyder corneal dystrophy. PMID: 23169578
- UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development. PMID: 23533172
- Findings identify UBIAD1 as a nonmitochondrial CoQ10-forming enzyme with a specific cardiovascular protective function through the modulation of eNOS activity. PMID: 23374346
- The nonsynonymous mutation, N102S, in the UBIAD1 gene has been detected in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). PMID: 22065921
- The inhibitory effects of ectopic TERE1 expression on tumorigenic growth. PMID: 21740188
- Results demonstrate that UBIAD1 is a human MK-4 biosynthetic enzyme; this identification will enable more informed decisions regarding vitamin K intake and bone health. PMID: 20953171
- UBIAD1 encodes a menaquinone-4 biosynthetic enzyme that converts phylloquinone (PK) to menaquinone-4 (MK-4). PMID: 20953171
- Our newly reported UBIAD1 mutation suggests that central discoid corneal dystrophy (CDCD) is actually a variant of Schnyder corneal dystrophy. PMID: 20489584
- Mitochondrial UBIAD1 protein appears to have a highly conserved function that, at least in humans, is involved in cholesterol metabolism in a novel way. PMID: 20505825
- Data suggest that UBIAD1 encodes a potential prenyltransferase, and may directly participate in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage. PMID: 17668063
- TERE1 may play a significant role in prostate cancer growth regulation, and the downregulation or absence of TERE1 may be a crucial factor in the phenotype of advanced disease. PMID: 12497587
- The objective of this study was to gain a deeper understanding of the function of the TERE1 protein by identifying potential protein-protein interactions with TERE1. PMID: 15782423
- Missense mutations in UBIAD1, located just outside of the originally described Schnyder crystalline corneal dystrophy (SCCD) fine-mapped region, were identified in each of three families with SCCD, confirming that mutations in UBIAD1 are associated with SCCD. PMID: 17960116
- Nonsynonymous mutations in the UBIAD1 gene were detected in six SCCD (Schnyder crystalline corneal dystrophy) families, and a potential mutation hotspot was observed at amino acid N102. PMID: 17962451
- Schnyder crystalline corneal dystrophy mutations affect function, ligand binding, and interaction with binding partners, such as apolipoproteins E. PMID: 18176953
- Nonsynonymous novel mutations in the UBIAD1 gene were detected in 3 unrelated Japanese pedigrees with Schnyder's crystalline corneal dystrophy (SCCD), confirming the genetic heterogeneity of this disorder. PMID: 19394700
- Screening of the UBIAD1 gene identified a highly conserved mutation, Ser171Pro in a Chinese family. PMID: 19429578
- The newly identified mutation expands the spectrum of mutations in UBIAD1 that can cause pathological corneal cholesterol deposition. PMID: 19649163
