UbiA Prenyltransferase Domain Containing Protein 1 (UBIAD1)

TERE1; Transitional Epithelia Response Protein

SPN	M499
HGNC	30791
MGI	1918957
PubMed	23374346
RGD	1309588
UniProt	Q9Y5Z9
Wiki	UBIAD1

TERE1 expression in both superficial and muscle-invasive transitional cell carcinomas of bladder (TCCs) compared with normal human urothelium. Transfection of TERE1 into 2 human TCC cell lines inhibited cellular proliferation by 80 to 90%. In 1 line, TERE1 overexpression caused a change in morphology, with an apparent increase in intercellular contacts

The deduced 338-amino acid protein has a calculated molecular mass of 36.8 kD. TERE1 has 5 putative transmembrane regions, an N-glycosylation site, and several putative phosphorylation sites. Northern blot and PCR analyses showed ubiquitous expression of 1.5- and 3-kb TERE1 transcripts. Immunohistochemical analysis of human urothelium revealed nuclear and cytoplasmic expression of TERE1.

Reference

"Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder."
Oncogene 20:1042-1051(2001) [PubMed] [Europe PMC] [Abstract]

"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. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"TERE1, a novel gene affecting growth regulation in prostate carcinoma."
Prostate 54:144-155(2003) [PubMed] [Europe PMC] [Abstract]

"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]

"Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme."
Nature 468:117-121(2010) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis."
Cell 152:504-518(2013) [PubMed] [Europe PMC] [Abstract]

"Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy."
Invest. Ophthalmol. Vis. Sci. 48:5007-5012(2007) [PubMed] [Europe PMC] [Abstract]

"Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy."
PLoS ONE 2:E685-E685(2007) [PubMed] [Europe PMC] [Abstract]

"Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function."
Am. J. Med. Genet. A 146:271-283(2008) [PubMed] [Europe PMC] [Abstract]

"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. 93:926-931(2009) [PubMed] [Europe PMC] [Abstract]

"A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy."
Mol. Vis. 15:1463-1469(2009) [PubMed] [Europe PMC] [Abstract]

"Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy."
Cornea 29:777-780(2010) [PubMed] [Europe PMC] [Abstract]

"UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy."
PLoS ONE 5:E10760-E10760(2010) [PubMed] [Europe PMC] [Abstract]

"The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes."
Hum. Mutat. 34:317-329(2013) [PubMed] [Europe PMC] [Abstract]