UbiA prenyltransferase domain-containing protein 1

Details

Name
UbiA prenyltransferase domain-containing protein 1
Synonyms
  • 2.5.1.-
  • TERE1
  • Transitional epithelial response protein 1
Gene Name
UBIAD1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0052573|UbiA prenyltransferase domain-containing protein 1
MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQKCASYVLALRPWSFSA
SLTPVALGSALAYRSHGVLDPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDDRT
LVDRILEPQDVVRFGVFLYTLGCVCAACLYYLSPLKLEHLALIYFGGLSGSFLYTGGIGF
KYVALGDLIILITFGPLAVMFAYAIQVGSLAIFPLVYAIPLALSTEAILHSNNTRDMESD
REAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILATHCTISLALPLLTIPMAFSLERQF
RSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGSLPKI
Number of residues
338
Molecular Weight
36830.745
Theoretical pI
Not Available
GO Classification
Functions
antioxidant activity / prenyltransferase activity
Processes
menaquinone biosynthetic process / ubiquinone biosynthetic process / ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate / vitamin K biosynthetic process / vitamin K metabolic process
Components
cytoplasm / endoplasmic reticulum / endoplasmic reticulum membrane / integral component of Golgi membrane / membrane / mitochondrial membrane / nucleus
General 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.
Specific Function
Antioxidant activity
Pfam Domain Function
Transmembrane Regions
83-103 134-154 160-180 188-208 209-229 245-267 277-297 315-335
Cellular Location
Endoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0052574|UbiA prenyltransferase domain-containing protein 1 (UBIAD1)
ATGGCGGCCTCTCAGGTCCTGGGGGAGAAGATTAACATCCTGTCGGGAGAGACTGTCAAA
GCTGGGGACAGGGACCCGCTGGGGAACGACTGTCCCGAGCAAGATAGGCTCCCCCAGCGC
TCCTGGAGGCAGAAGTGTGCCTCCTACGTGTTGGCCCTGAGGCCCTGGAGCTTCAGTGCC
TCACTCACACCGGTGGCCCTGGGCAGTGCCCTTGCCTACAGATCCCACGGTGTCCTGGAT
CCCAGGCTCTTGGTGGGTTGTGCCGTGGCTGTCCTGGCTGTGCACGGGGCCGGTAATTTG
GTCAACACTTACTATGACTTTTCCAAGGGCATTGACCACAAAAAGAGTGATGACAGGACA
CTTGTGGACCGAATCTTGGAGCCGCAGGATGTCGTCCGGTTCGGAGTCTTCCTCTACACG
TTGGGCTGCGTCTGTGCCGCTTGCCTCTACTACCTGTCCCCTCTGAAACTGGAGCACTTG
GCTCTTATCTACTTTGGAGGCCTGTCTGGCTCCTTTCTCTACACAGGAGGAATTGGATTC
AAGTACGTGGCTCTGGGAGACCTCATCATCCTCATCACTTTTGGCCCGCTGGCTGTGATG
TTCGCCTACGCCATCCAGGTGGGGTCCCTGGCCATCTTCCCACTGGTCTATGCCATCCCC
CTCGCCCTCAGCACCGAGGCCATTCTCCATTCCAACAACACCAGGGACATGGAGTCCGAC
CGGGAGGCTGGTATCGTCACGCTGGCCATCCTCATCGGCCCCACGTTCTCCTACATTCTC
TACAACACACTGCTCTTCCTGCCCTACCTGGTCTTCAGCATCCTGGCCACACACTGCACC
ATCAGCCTGGCACTCCCCCTGCTTACCATTCCCATGGCCTTCTCCCTTGAGAGACAGTTT
CGAAGCCAGGCCTTCAACAAACTGCCCCAGAGGACTGCCAAGCTCAACCTCCTGCTGGGA
CTTTTCTATGTCTTTGGCATCATTCTGGCACCAGCAGGCAGTCTGCCCAAAATTTAA
Chromosome Location
1
Locus
1p36.22
External Identifiers
ResourceLink
UniProtKB IDQ9Y5Z9
UniProtKB Entry NameUBIA1_HUMAN
HGNC IDHGNC:30791
General References
  1. 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. 2001 Mar 1;20(9):1042-51. doi: 10.1038/sj.onc.1204143. [Article]
  2. Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai 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. 2005;12(2):117-26. [Article]
  3. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [Article]
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [Article]
  5. McGarvey TW, Nguyen T, Puthiyaveettil R, Tomaszewski JE, Malkowicz SB: TERE1, a novel gene affecting growth regulation in prostate carcinoma. Prostate. 2003 Feb 1;54(2):144-55. doi: 10.1002/pros.10174. [Article]
  6. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309. [Article]
  7. 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. doi: 10.1038/nature09464. Epub 2010 Oct 17. [Article]
  8. Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C: Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features. Mol Cell Proteomics. 2012 Jun;11(6):M111.015131. doi: 10.1074/mcp.M111.015131. Epub 2012 Jan 5. [Article]
  9. Mugoni V, Postel R, Catanzaro V, De Luca E, Turco E, Digilio G, Silengo L, Murphy MP, Medana C, Stainier DY, Bakkers J, Santoro MM: Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis. Cell. 2013 Jan 31;152(3):504-18. doi: 10.1016/j.cell.2013.01.013. [Article]
  10. 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. 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. [Article]
  11. Orr A, Dube 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: Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One. 2007 Aug 1;2(8):e685. doi: 10.1371/journal.pone.0000685. [Article]
  12. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, 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. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. [Article]
  13. Mehta JS, Vithana EN, Venkataraman D, Venkatraman A, Yong VH, Aung T, Tan DT: Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. Br J Ophthalmol. 2009 Jul;93(7):926-31. doi: 10.1136/bjo.2008.152140. Epub 2009 May 7. [Article]
  14. Jing Y, Liu C, Xu J, Wang L: A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Mol Vis. 2009 Jul 29;15:1463-9. [Article]
  15. Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A: Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Cornea. 2010 Jul;29(7):777-80. doi: 10.1097/ICO.0b013e3181c84bcf. [Article]
  16. Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS: UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760. [Article]
  17. Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M: The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes. Hum Mutat. 2013 Feb;34(2):317-29. doi: 10.1002/humu.22230. Epub 2012 Nov 27. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01022Phylloquinoneapproved, investigationalunknownsubstrateDetails