UBIAD1 Antibody, Biotin conjugated

Code CSB-PA23029D0Rb
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) UBIAD1 Polyclonal antibody
Uniprot No.
Target Names
UBIAD1
Alternative Names
RP4-796F18.1 antibody; SCCD antibody; TERE 1 antibody; tere1 antibody; Transitional epithelia response protein antibody; Transitional epithelial response protein 1 antibody; UbiA prenyltransferase domain containing 1 antibody; UbiA prenyltransferase domain containing protein 1 antibody; UbiA prenyltransferase domain-containing protein 1 antibody; UBIA1_HUMAN antibody; UBIAD 1 antibody; Ubiad1 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human UbiA prenyltransferase domain-containing protein 1 protein (1-82AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
Biotin
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.
Gene References into Functions
  1. The novel p.Thr120Arg is the fourth Schnyder corneal dystrophy-causing variant lying within the FARM motif of the UBIAD1 protein, which underlines a high importance of this motif for SCD pathogenesis. PMID: 30084067
  2. Although de novo occurrence of mutations in UBIAD1 is extremely rare, SCD should be considered in the differential diagnosis of bilateral corneal haze and/or crystal deposition, especially in children PMID: 30223810
  3. Silencing UBIAD1 further aggravates the deleterious effects rendered by Ang II, indicating that a normal or increased level of UBIAD1 may offer protection against the Ang IIinduced hypertrophic response and apoptosis. PMID: 28901410
  4. these findings disclose a novel sensing mechanism that allows for stringent metabolic control of intracellular trafficking of UBIAD1, which directly modulates reductase degradation and becomes disrupted in Schnyder corneal dystrophy (SCD). PMID: 27121042
  5. UBIAD1 or menaquinone-4 could decrease vascular cell differentiation and calcification, probably via its potent role of inversely modulating cellular cholesterol. PMID: 26890002
  6. The conserved domain I is a substrate recognition site that undergoes a structural change after substrate binding. PMID: 25874989
  7. Data show that sterols stimulate binding of prenyltransferase UBIAD1 to HMG CoA reductase, which is subject to sterol-accelerated, endoplasmic reticulum (ER)-associated degradation augmented by the nonsterol isoprenoid geranylgeraniol. PMID: 25742604
  8. results suggest that YY1 up-regulates UBIAD1 expression and UBIAD1 conversion activity through the UBIAD1 promoter PMID: 25772619
  9. N102S may also be a mutation hotspot in the Polish population, as in other previously reported populations. PMID: 24608252
  10. Golgi localization of UBIAD1 influences its tumor suppressant activity. PMID: 23977195
  11. Loss of TERE1 may contribute to the altered lipid metabolic phenotype associated with progression in renal clear cell carcinoma via an uncoupling of reactive oxygen species/nitric oxide and SXR signaling from apoptosis by elevation of cholesterol. PMID: 23759948
  12. Physical association of UBIAD1 with enzymes involved in cholesterol synthesis and storage, providing direct links between UBIAD1 and cholesterol metabolism that are likely relevant to Schnyder corneal dystrophy disease pathology. PMID: 23169578
  13. UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development. PMID: 23533172
  14. Findings identify UBIAD1 as a nonmitochondrial CoQ10-forming enzyme with specific cardiovascular protective function via the modulation of eNOS activity. PMID: 23374346
  15. The nonsynonymous mutation, N102S, in the UBIAD1 gene has been detected in in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). PMID: 22065921
  16. the inhibitory effects of ectopic TERE1 expression on tumorigenic growth PMID: 21740188
  17. results show that UBIAD1 is a human MK-4 biosynthetic enzyme; this identification will permit more effective decisions to be made about vitamin K intake and bone health PMID: 20953171
  18. UBIAD1 encodes a menaquinone-4 biosynthetic enzyme that converts phylloquinone (PK) to menaquinone-4 (MK-4) PMID: 20953171
  19. Our newly reported UBIAD1 mutation suggests that central discoid corneal dystrophy (CDCD) is actually a variant of schnyder corneal dystrophy. PMID: 20489584
  20. Mitochondrial UBIAD1 protein appears to have a highly conserved function that, at least in humans, is involved in cholesterol metabolism in a novel manner. PMID: 20505825
  21. Data suggest that UBIAD1 encodes a potential prenyltransferase, and may play a direct role in intracellular cholesterol biochemistry, or may prenylate other proteins regulating cholesterol transport and storage. PMID: 17668063
  22. TERE1 maybe significant in prostate cancer growth regulation and the down regulation or absence of TERE1 may be an important component of the phenotype of advanced disease PMID: 12497587
  23. The objective of this study was to gain further insight into the function of the TERE1 protein by identifying potential protein to protein interactions with TERE1 PMID: 15782423
  24. Missense mutations in UBIAD1, located just outside of 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
  25. Nonsynonymous mutations in the UBIAD1 gene were detected in six SCCD (Schnyder crystalline corneal dystrophy) families, and a potential mutation hot spot was observed at amino acid N102. PMID: 17962451
  26. Schnyder crystalline corneal dystrophy mutations affect function, ligand binding and interaction with binding partners, like apolipoproteins E. PMID: 18176953
  27. 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
  28. Screening of the UBIAD1 gene identified a highly conserved mutation, Ser171Pro in a chinese family. PMID: 19429578
  29. The newly identified mutation expands the spectrum of mutations in UBIAD1 that may cause pathological corneal cholesterol deposition. PMID: 19649163

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Involvement in disease
Corneal dystrophy, Schnyder type (SCCD)
Subcellular Location
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Mitochondrion membrane. Cytoplasm. Nucleus.
Protein Families
UbiA prenyltransferase family
Tissue Specificity
Ubiquitously expressed.
Database Links

HGNC: 30791

OMIM: 121800

KEGG: hsa:29914

STRING: 9606.ENSP00000366006

UniGene: Hs.522933

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