UBIAD1
Encyclopedia
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
.
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.
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Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the UBIAD1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
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 dystrophySchnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy is a rare form of human 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...
.