UBIAD1 explained

UbiA prenyltransferase domain-containing protein 1 (UBIAD1) also known as transitional epithelial response protein 1 (TERE1) is a protein that in humans is encoded by the UBIAD1 gene.^{[1] [2] [3]}

The enzyme is named for its canonical role in ubiquinone production, catalyzing reaction EC 2.5.1.39; it thus has a role in oxidative stress pathways.^[4] Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, hence a role in blood vessel development.^{[5] [6]}

Clinical significance

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.^{[7] [8]} >^[9]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• McGarvey TW, Nguyen TB, Malkowicz SB . An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation . J. Cell. Biochem. . 95 . 2 . 419–28 . 2005 . 15782423 . 10.1002/jcb.20432 . 43563999 .
• Otsuki T . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . vanc. Ota T . Nishikawa T . 3 . Hayashi . K . Suzuki . Y . Yamamoto . J . Wakamatsu . A . Kimura . K . Sakamoto . K . free .
• Gregory SG . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . vanc. Barlow KF . McLay KE . 3 . Kaul . R. . Swarbreck . D. . Dunham . A. . Scott . C. E. . Howe . K. L. . Woodfine . K. . 2006Natur.441..315G . free .
• Yellore VS . Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy . Mol. Vis. . 13 . 1777–82 . 2007 . 17960116 . vanc. Khan MA . Bourla N . 3 . Rayner . SA . Chen . MC . Sonmez . B . Momi . RS . Sampat . KM . Gorin . MB .

Notes and References

1. McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE, Malkowicz SB . TERE1, a novel gene affecting growth regulation in prostate carcinoma . Prostate . 54 . 2 . 144–55 . Dec 2002 . 12497587 . 10.1002/pros.10174 . 12942882 .
2. McGarvey TW, Nguyen T, Tomaszewski JE, Monson FC, Malkowicz SB . Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder . Oncogene . 20 . 9 . 1042–51 . Apr 2001 . 11314041 . 10.1038/sj.onc.1204143 . free .
3. Web site: Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1.
4. Fredericks WJ, McGarvey T, Wang H, Lal P, Puthiyaveettil R, Tomaszewski J, Sepulveda J, Labelle E, Weiss JS, Nickerson ML, Kruth HS, Brandt W, Wessjohann LA, Malkowicz SB . The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression . DNA Cell Biol. . 30 . 11 . 851–64 . November 2011 . 21740188 . 3206744 . 10.1089/dna.2011.1315 .
5. Nakagawa K, Hirota Y, Sawada N, Yuge N, Watanabe M, Uchino Y, Okuda N, Shimomura Y, Suhara Y, Okano T . Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme . Nature . 468 . 7320 . 117–21 . November 2010 . 20953171 . 10.1038/nature09464 . 2010Natur.468..117N . 9385489 .
6. R Postel, Identification and Characterization of Novel Genes by Reverse and Forward Genetics in Zebrafish, igitur-archive.library.uu.nl/dissertations/2008-0522.../UUindex.html, 2008.
7. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML . Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy . Invest. Ophthalmol. Vis. Sci. . 48 . 11 . 5007–12 . November 2007 . 17962451 . 10.1167/iovs.07-0845 . free .
8. Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M . 6. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy . PLOS ONE . 2 . 8 . e685 . August 2007 . 17668063 . 1925147 . 10.1371/journal.pone.0000685 . 2007PLoSO...2..685O. free.
9. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu da W, Ebenezer N, Nickerson ML . Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function . Am. J. Med. Genet. A . 146 . 3 . 271–83 . February 2008 . 18176953 . 10.1002/ajmg.a.32201 . 24627267 .