Biology:UBIAD1
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 Generic protein structure example |
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. Recent evidence suggests that ubiad1 has enzymatic activity in the vitamin K pathway, a role in blood vessel development, and may be involved in oxidative stress pathways.[4][5][6]
Clinical significance
Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.[7][8]>[9]
References
- ↑ "TERE1, a novel gene affecting growth regulation in prostate carcinoma". Prostate 54 (2): 144–55. Dec 2002. doi:10.1002/pros.10174. PMID 12497587.
- ↑ "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. doi:10.1038/sj.onc.1204143. PMID 11314041.
- ↑ "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=29914.
- ↑ "Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme". Nature 468 (7320): 117–21. November 2010. doi:10.1038/nature09464. PMID 20953171. Bibcode: 2010Natur.468..117N.
- ↑ "The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression". DNA Cell Biol. 30 (11): 851–64. November 2011. doi:10.1089/dna.2011.1315. PMID 21740188.
- ↑ 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.
- ↑ "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. doi:10.1167/iovs.07-0845. PMID 17962451.
- ↑ "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy". PLOS ONE 2 (8): e685. August 2007. doi:10.1371/journal.pone.0000685. PMID 17668063. Bibcode: 2007PLoSO...2..685O.
- ↑ "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. doi:10.1002/ajmg.a.32201. PMID 18176953.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y; Yoshitomo-Nakagawa K; Maruyama K et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- "An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation". J. Cell. Biochem. 95 (2): 419–28. 2005. doi:10.1002/jcb.20432. PMID 15782423.
- Otsuki T; Ota T; Nishikawa T et al. (2007). "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. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Gregory SG; Barlow KF; McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. Bibcode: 2006Natur.441..315G.
- Yellore VS; Khan MA; Bourla N et al. (2007). "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. PMID 17960116.
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