UbiA prenyltransferase domain-containing protein 1 ( UbiA prenyltransferase domain-containing protein 1 ) is a human enzyme encoded by the UBIAD1 gene on the first chromosome .
| UBIAD1 | |
|---|---|
| Designations | |
| Characters | UBIAD1 |
| Entrez gene | 29914 |
| Hgnc | 30791 |
| Omim | 611632 |
| Refseq | NM_013319 |
| Uniprot | Q9Y5Z9 |
| Other data | |
| Locus | 1st hr. , 1p36.22 |
UBIAD1 is believed to be involved in cholesterol metabolism .
The UBIAD1 gene is extremely evolutionary conservative: it is almost 100% identical in all vertebrates ; human UBIAD1 is even largely homologous to this insect gene. [1] The gene of the bacterium E. coli called UbiA is already significantly different from the human one, but nevertheless their sequences conveniently "overlap". The Drosophila ortholog of the UBIAD1 gene is called heixuedian (heix) .
Clinical Importance
Mutations in the UBIAD1 gene cause corneal Schneider dystrophy .
Alternative names
- Transient protein of epithelial reaction, 1 - Eng. Transitional epithelial response protein 1 , TERE1
Notes
- ↑ Orr A. , Dubé 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. (English) // Public Library of Science ONE. - 2007. - Vol. 2, no. 8 . - P. e685. - DOI : 10.1371 / journal.pone.0000685 . - PMID 17668063 .