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Identification
HMDB Protein ID HMDBP14626
Secondary Accession Numbers None
Name UbiA prenyltransferase domain-containing protein 1
Synonyms
  1. Transitional epithelial response protein 1
Gene Name UBIAD1
Protein Type Unknown
Biological Properties
General Function Not Available
Specific 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.
Pathways
  • menaquinone biosynthesis
  • ubiquinone biosynthesis
Reactions Not Available
GO Classification
Biological Process
ubiquinone biosynthetic process
menaquinone biosynthetic process
vitamin K biosynthetic process
ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate
vitamin K metabolic process
Cellular Component
endoplasmic reticulum membrane
mitochondrial membrane
cytoplasm
endoplasmic reticulum
nucleus
integral to Golgi membrane
membrane
Molecular Function
antioxidant activity
prenyltransferase activity
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 179
Molecular Weight 36830.745
Theoretical pI 7.704
Pfam Domain Function
Signals Not Available
Transmembrane Regions
  • 83-103;134-154;160-180;188-208;209-229;245-267;277-297;315-335;
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9Y5Z9
UniProtKB/Swiss-Prot Entry Name UBIA1_HUMAN
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
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  3. 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. [PubMed:19413330 ]
  4. 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. [PubMed:16303743 ]
  5. 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. [PubMed:22223895 ]
  6. 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. [PubMed:11314041 ]
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  8. 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. [PubMed:20953171 ]
  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. [PubMed:23374346 ]
  10. 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. [PubMed:17668063 ]
  11. 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. [PubMed:18176953 ]
  12. 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. [PubMed:19429578 ]
  13. 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. [PubMed:19649163 ]
  14. 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. [PubMed:20489584 ]
  15. 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. [PubMed:23169578 ]