BAIT

UBIAD1

SCCD, TERE1, RP4-796F18.1
UbiA prenyltransferase domain containing 1
Homo sapiens
PREY

VEGFA

MVCD1, VEGF, VPF, RP1-261G23.1
vascular endothelial growth factor A
GO Process (97)
GO Function (16)
GO Component (7)

Gene Ontology Biological Process

Homo sapiens

Two-hybrid

Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.

Publication

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M

Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity. UBIAD1 was recently shown to synthesize menaquinone-4 (MK-4, vitamin K(2) ), but causal mechanisms of SCD are unknown. We report a novel c.864G>A UBIAD1 mutation altering glycine ... [more]

Hum. Mutat. Feb. 01, 2013; 34(2);317-29 [Pubmed: 23169578]

Throughput

  • Low Throughput

Additional Notes

  • Table 2

Curated By

  • BioGRID