UBIAD1

Chr 1p36.22

UbiA prenyltransferase domain containing 1

Aliases:: TERE1
MANE:: ENST00000376810.6

OMIM: 611632 ↗NCBI: 29914 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

UBIAD1 · Q9Y5Z9

v62025-08-01

Predicted Aligned Error matrix for UBIAD1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.0/ 100

Very high

338 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)5%
Low(50–70)4%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Corneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Corneal dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

Schnyder corneal dystrophy
0.82
renal carcinoma
0.17
breast carcinoma
0.16
posterior polymorphous corneal dystrophy
0.11
Fuchs endothelial corneal dystrophy
0.10
X-linked corneal dermoid
0.10
retinitis pigmentosa
0.10
X-linked endothelial corneal dystrophy
0.10
Peters anomaly
0.10
Familial ocular anterior segment mesenchymal dysgenesis
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UbiA prenyltransferase domain-containing protein 1

Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10 (PubMed:20953171, PubMed:23374346). MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development (PubMed:20953171). Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4 (PubMed:20953171). Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system (PubMed:23374346). Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress (PubMed:23374346)

Curated MONDO disease pages that list UBIAD1 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with UBIAD1