UBIAD1

UBIAD1
Identifiers
Aliases	UBIAD1 , SCCD, TERE1, UbiA prenyltransferase domain containing 1
External IDs	OMIM: 611632 MGI: 1918957 HomoloGene: 8336 GeneCards: UBIAD1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	11,296,049 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	148,529,228 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; secondary oocyte; ; ganglionic eminence; ; islet of Langerhans; ; nipple; ; endothelial cell; ; vulva; ; deltoid muscle; ; retinal pigment epithelium; ; popliteal artery;
	Top expressed in
	proximal tubule; ; secondary oocyte; ; kidney; ; interventricular septum; ; yolk sac; ; thoracic diaphragm; ; knee joint; ; primitive streak; ; brown adipose tissue; ; digastric muscle;
	More reference expression data
	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 membrane ; 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
	29914
	71707
	ENSG00000120942
	ENSMUSG00000047719
	Q9Y5Z9
	Q9DC60
	NM_013319 ; NM_001330349 ; NM_001330350
	NM_027873
	NP_001317278 ; NP_001317279 ; NP_037451
	NP_082149
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 18, 2022

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]

Clinical significance

Mutations of the UBIAD1 gene cause Schnyder crystalline corneal dystrophy.^[11]^[12]>^[13]

Related Research Articles

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Schnyder crystalline corneal dystrophy (SCD) is a rare form of corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phosopholipid deposits leading to the opacity, in severe cases requiring corneal transplants. Abnormal cholesterol metabolism has been noted in other cell types of affected patients suggesting that this may be a systemic disorder with clinical manifestations limited to the cornea.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000120942 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047719 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
↑ 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".
↑ 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.
↑ 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.
↑ 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.
↑ 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, 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.
↑ 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.

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000120942 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12497587-5] 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.

[pmid11314041-6] 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.

[entrez-7] "Entrez Gene: UBIAD1 UbiA prenyltransferase domain containing 1".

[pmid20953171-8] 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.

[pmid21740188-9] 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.

[10] 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.

[pmid17962451-11] 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.

[pmid17668063-12] 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.

[pmid18176953-13] 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.

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UBIAD1

Contents

Clinical significance

Related Research Articles

References

Further reading