UBIAD1
| UbiA prenyltransferase domain containing 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | UBIAD1 ; SCCD; TERE1 | ||||||||||||
| External IDs | OMIM: 611632 MGI: 1918957 HomoloGene: 8336 GeneCards: UBIAD1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 29914 | 71707 | |||||||||||
| Ensembl | ENSG00000120942 | ENSMUSG00000047719 | |||||||||||
| UniProt | Q9Y5Z9 | Q9DC60 | |||||||||||
| RefSeq (mRNA) | NM_013319 | NM_027873 | |||||||||||
| RefSeq (protein) | NP_037451 | NP_082149 | |||||||||||
| Location (UCSC) | Chr 1: 11.33 – 11.36 Mb | Chr 4: 148.43 – 148.44 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
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. 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. 2010 Nov 4;468(7320):117-21. Epub 2010 Oct 17. 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. 2011 Nov;30(11):851-64. Epub 2011 Jul 8. 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.
Clinical significance
Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.[4][5][6]
References
- ↑ McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE, Malkowicz SB (Dec 2002). "TERE1, a novel gene affecting growth regulation in prostate carcinoma". Prostate 54 (2): 144–55. doi:10.1002/pros.10174. PMID 12497587.
- ↑ McGarvey TW, Nguyen T, Tomaszewski JE, Monson FC, Malkowicz SB (Apr 2001). "Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder". Oncogene 20 (9): 1042–51. doi:10.1038/sj.onc.1204143. PMID 11314041.
- ↑ "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1".
- ↑ 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 (November 2007). "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. doi:10.1167/iovs.07-0845. PMID 17962451.
- ↑ 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 (2007). Kronenberg, Florian, ed. "Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy". PLoS ONE 2 (1): e685. doi:10.1371/journal.pone.0000685. PMC 1925147. PMID 17668063.
- ↑ 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 (February 2008). "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. doi:10.1002/ajmg.a.32201. PMID 18176953.
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 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. PMC 139241. 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. PMC 528928. PMID 15489334.
- McGarvey TW, Nguyen TB, Malkowicz SB (2005). "An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation". J. Cell. Biochem. 95 (2): 419–28. 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.
- 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.