UBIAD1 Gene
UbiA Prenyltransferase Domain Containing 1
Gene Information Card
| Symbol | UBIAD1 |
|---|---|
| Full Name | UbiA Prenyltransferase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 29914 ncbi.nlm.nih.gov/gene/29914 |
| Ensembl ID | ENSG00000120942 |
| UniProt ID | Q9Y5Z9 |
| OMIM ID | 611632 |
| HGNC ID | 30262 |
| Aliases | TERE1, SCCD, PTDSS2 |
Description
UBIAD1 encodes a prenyltransferase enzyme involved in the biosynthesis of menaquinone-4 (vitamin K2) and coenzyme Q10. It localizes to the endoplasmic reticulum and Golgi apparatus and plays a role in lipid metabolism, mitochondrial function, and cellular stress responses. Mutations in UBIAD1 cause Schnyder corneal dystrophy (SCCD), an autosomal dominant disorder characterized by corneal lipid accumulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schnyder corneal dystrophy (SCCD) | Missense mutations impair prenyltransferase activity, leading to abnormal lipid deposition in the cornea. | ClinVar, OMIM #121800 |
| Hereditary vitamin K deficiency | Disrupted menaquinone-4 synthesis may contribute to coagulation defects. | UniProt, OMIM #611632 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.5 | Low |
| Brain | 4.2 | Low |
| Cornea | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.5 | Hepatocyte line |
| HEK293 | 11.2 | Embryonic kidney |
| ARPE-19 | 8.9 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Asn102Ser | Missense | Rare | Reduced enzyme activity; associated with SCCD |
| p.Gly177Arg | Missense | Rare | Dominant negative effect; corneal lipid accumulation |
| p.Leu121Phe | Missense | Rare | Impaired prenylation; SCCD phenotype |
Mutation functional classification
Loss of Function (LOF)
Some missense mutations reduce prenyltransferase activity, leading to decreased menaquinone-4 synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutations such as p.Gly177Arg exert dominant negative effects, disrupting wild-type function and causing lipid deposition.
View complete mutation data：
Gene Ontology (GO)
| • prenyltransferase activity | • vitamin K biosynthetic process |
| • Golgi membrane | • endoplasmic reticulum |
| • coenzyme Q10 biosynthetic process |
Pathways
• Vitamin K metabolism
• Ubiquinone biosynthesis
Protein Summary
UBIAD1 is a 338-amino acid transmembrane prenyltransferase that catalyzes the conversion of menadione to menaquinone-4. It contains a UbiA prenyltransferase domain and is essential for vitamin K2 production. The protein is highly expressed in cornea, liver, and kidney, and its dysfunction leads to Schnyder corneal dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBIAD1 Knockout HEK293 Cell Line | EDJ-KQ9078 | Human | 29914 | Details Get a Quote |
| UBIAD1 Knockout A-549 Cell Line | EDJ-KQ35564 | Human | 29914 | Details Get a Quote |
| UBIAD1 Knockout HCT 116 Cell Line | EDJ-KQ35565 | Human | 29914 | Details Get a Quote |
| UBIAD1 Knockout HeLa Cell Line | EDJ-KQ35566 | Human | 29914 | Details Get a Quote |
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