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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UBIAD1
UbiA prenyltransferase domain containing 1
Chromosome 1 Β· 1p36.22
NCBI Gene: 29914Ensembl: ENSG00000120942.14HGNC: HGNC:30791UniProt: Q9Y5Z9
76PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscytoplasmantioxidant activitymembraneSchnyder corneal dystrophyrenal carcinomabreast carcinomaFuchs endothelial corneal dystrophy
✦AI Summary

UBIAD1 encodes a prenyltransferase enzyme that plays critical roles in vitamin K2 and coenzyme Q10 (CoQ10) biosynthesis. The protein mediates conversion of phylloquinone to menaquinone-4 (MK-4), a vitamin K2 isoform essential for endothelial cell development 1. UBIAD1 functions as a Golgi membrane-localized enzyme catalyzing CoQ10 biosynthesis, which provides antioxidant protection in cardiovascular tissues 2. Beyond its enzymatic functions, UBIAD1 regulates cholesterol metabolism by controlling the ER-associated degradation of HMGCR, the rate-limiting enzyme in cholesterol synthesis 3. The protein normally translocates from ER to Golgi in response to geranylgeranyl pyrophosphate levels, but disease-associated mutations impair this trafficking 3. UBIAD1 deficiency leads to mitochondrial dysfunction and abnormal cholesterol accumulation 4. Clinically, heterozygous UBIAD1 mutations cause Schnyder corneal dystrophy, characterized by corneal cholesterol deposits and progressive opacity 56. The protein also influences cancer biology, where UBIAD1 expression correlates with survival outcomes in melanoma by protecting cells from lipid peroxidation-mediated death 27. UBIAD1 additionally affects hepatic lipid metabolism in a sex-specific manner 8.

Sources cited
1
UBIAD1 mediates vitamin K2 biosynthesis and MK-4 conversion
PMID: 25772619
2
UBIAD1 catalyzes CoQ10 biosynthesis and provides antioxidant protection
PMID: 35255427
3
UBIAD1 regulates HMGCR degradation and translocates from ER to Golgi
PMID: 40372435
4
UBIAD1 deficiency causes mitochondrial dysfunction and cholesterol accumulation
PMID: 27896114
5
UBIAD1 mutations cause corneal dystrophies
PMID: 19236704
6
UBIAD1 mutations result in Schnyder corneal dystrophy with cholesterol deposits
PMID: 27315290
7
UBIAD1 affects cancer cell membrane properties and metastasis
PMID: 39294175
8
UBIAD1 influences hepatic lipid metabolism in sex-specific manner
PMID: 40016272
Disease Associationsβ“˜21
Schnyder corneal dystrophyOpen Targets
0.82Strong
renal carcinomaOpen Targets
0.17Weak
breast carcinomaOpen Targets
0.15Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.09Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.09Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.09Suggestive
urinary bladder carcinomaOpen Targets
0.09Suggestive
Griscelli diseaseOpen Targets
0.08Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.08Suggestive
central cloudy dystrophy of FrançoisOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
X-linked corneal dermoidOpen Targets
0.08Suggestive
ringed hair diseaseOpen Targets
0.08Suggestive
Griscelli disease type 3Open Targets
0.08Suggestive
Griscelli syndrome type 3Open Targets
0.08Suggestive
granular corneal dystrophy type IOpen Targets
0.08Suggestive
autosomal dominant keratitisOpen Targets
0.08Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.08Suggestive
Corneal dystrophy, Schnyder typeUniProt
Pathogenic Variants13
NM_013319.3(UBIAD1):c.308C>T (p.Thr103Ile)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 103
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)Pathogenic
Schnyder crystalline corneal dystrophy|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 102
NM_013319.3(UBIAD1):c.362T>G (p.Leu121Arg)Likely pathogenic
Schnyder crystalline corneal dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 121
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)Likely pathogenic
Schnyder crystalline corneal dystrophy|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 177
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)Likely pathogenic
Schnyder crystalline corneal dystrophy
β˜…β˜†β˜†β˜†2021β†’ Residue 240
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2013β†’ Residue 177
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2008β†’ Residue 171
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2008β†’ Residue 175
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2008β†’ Residue 186
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2008β†’ Residue 236
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2007β†’ Residue 232
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2007β†’ Residue 112
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)Pathogenic
Schnyder crystalline corneal dystrophy
β˜†β˜†β˜†β˜†2007β†’ Residue 119
View on ClinVar β†—
Related Genes
FBXO2Protein interaction95%DISP3Protein interaction95%ACOT13Protein interaction89%HAO2Protein interaction83%HAO1Protein interaction83%HMGCRProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Ovary
94%
Heart
94%
Brain
92%
Lung
69%
Bone Marrow
68%
Gene Interaction Network
Click a node to explore
UBIAD1FBXO2DISP3ACOT13HAO2HAO1HMGCR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5Z9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.57 [0.36–0.92]
RankingsWhere UBIAD1 stands among ~20K protein-coding genes
  • #6,299of 20,598
    Most Researched76
  • #2,595of 5,498
    Most Pathogenic Variants13
  • #8,439of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedUBIAD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cancer cell stiffening via CoQ
PMID: 39294175
Nat Commun Β· 2024
1.00
2
Corneal dystrophies.
PMID: 19236704
Orphanet J Rare Dis Β· 2009
0.90
3
Hepatic lipid metabolism is altered in Ubiad1
PMID: 40016272
Sci Rep Β· 2025
0.80
4
Allosteric regulation of UBIAD1 trafficking from ER to Golgi revealed by chemical genetic screening.
PMID: 40372435
Proc Natl Acad Sci U S A Β· 2025
0.70
5
YY1 positively regulates human UBIAD1 expression.
PMID: 25772619
Biochem Biophys Res Commun Β· 2015
0.60