UBIAD1

UBIAD1
Identifiers
Aliases	UBIAD1 , SCCD, TERE1, UbiA prenyltransferase domain containing 1
External IDs	OMIM: 611632; MGI: 1918957; HomoloGene: 8336; GeneCards: UBIAD1; OMA:UBIAD1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22 Start 11,273,198 bp [1] End 11,296,049 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E2 Start 148,518,952 bp [2] End 148,529,228 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh gonad secondary oocyte skin of thigh ganglionic eminence islet of Langerhans nipple granulocyte ventricular zone Top expressed in zygote proximal tubule right kidney secondary oocyte primary oocyte human kidney interventricular septum yolk sac muscle of thigh Rostral migratory stream More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity antioxidant activity protein binding prenyltransferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups Cellular component cytoplasm integral component of membrane integral component of Golgi membrane Golgi apparatus endoplasmic reticulum membrane membrane mitochondrial membranes Golgi membrane endoplasmic reticulum mitochondrion nucleus Biological process menaquinone biosynthetic process ubiquinone biosynthetic process vitamin K biosynthetic process vitamin K metabolic process cellular oxidant detoxification ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29914 71707 Ensembl ENSG00000120942 ENSMUSG00000047719 UniProt Q9Y5Z9 Q9DC60 RefSeq (mRNA) NM_013319 NM_001330349 NM_001330350 NM_027873 RefSeq (protein) NP_001317278 NP_001317279 NP_037451 NP_082149 Location (UCSC) Chr 1: 11.27 – 11.3 Mb Chr 4: 148.52 – 148.53 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^{[5] [6] [7]}

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. ^[8]

Recent evidence suggests that UBIAD1 has enzymatic activity in the vitamin K pathway, converting menadione to MK-4. ^{[9] [10]} This translates to a role in blood vessel development in zebrafish. ^[11]

Clinical significance

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy. ^{[12] [13] [14]}

References

1. GRCh38: Ensembl release 89: ENSG00000120942 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000047719 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. S2CID   12942882.
6. 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.
7. "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1".
8. 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 (November 2011). "The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression". DNA Cell Biol. 30 (11): 851–64. doi:10.1089/dna.2011.1315. PMC   3206744 . PMID   21740188.
9. Hirota, Yoshihisa; Tsugawa, Naoko; Nakagawa, Kimie; Suhara, Yoshitomo; Tanaka, Kiyoshi; Uchino, Yuri; Takeuchi, Atsuko; Sawada, Natsumi; Kamao, Maya; Wada, Akimori; Okitsu, Takashi (2013-11-15). "Menadione (vitamin K3) is a catabolic product of oral phylloquinone (vitamin K1) in the intestine and a circulating precursor of tissue menaquinone-4 (vitamin K2) in rats". The Journal of Biological Chemistry. 288 (46): 33071–33080. doi: 10.1074/jbc.M113.477356 . ISSN   1083-351X. PMC   3829156 . PMID   24085302.
10. Nakagawa K, Hirota Y, Sawada N, Yuge N, Watanabe M, Uchino Y, Okuda N, Shimomura Y, Suhara Y, Okano T (November 2010). "Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme". Nature. 468 (7320): 117–21. Bibcode:2010Natur.468..117N. doi:10.1038/nature09464. PMID   20953171. S2CID   9385489.
11. 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.
12. 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.
13. Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, et al. (August 2007). "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy". PLOS ONE. 2 (8): e685. Bibcode:2007PLoSO...2..685O. doi: 10.1371/journal.pone.0000685 . PMC   1925147 . PMID   17668063.
14. 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. S2CID   24627267.

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. Bibcode:2002PNAS...9916899M. 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. S2CID   43563999.
• 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. Bibcode:2006Natur.441..315G. 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.