Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29914
MIM: 611632
HGNC: 30791
Ensembl: ENSG00000120942
Variants:
dbSNP: 29914
ClinVar: 29914
TCGA: ENSG00000120942
COSMIC: UBIAD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000120942 | ENST00000376804 | Q9Y5Z9 |
| ENSG00000120942 | ENST00000376810 | Q9Y5Z9 |
| ENSG00000120942 | ENST00000483738 | R4GN21 |
| ENSG00000120942 | ENST00000486588 | R4GNE3 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35255427 | 2022 | UBIAD1 and CoQ10 protect melanoma cells from lipid peroxidation-mediated cell death. | 10 |
| 35255427 | 2022 | UBIAD1 and CoQ10 protect melanoma cells from lipid peroxidation-mediated cell death. | 10 |
| 34368857 | 2021 | Functional study of SCCD pathogenic gene UBIAD1 (Review). | 1 |
| 34368857 | 2021 | Functional study of SCCD pathogenic gene UBIAD1 (Review). | 1 |
| 32188638 | 2020 | Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation. | 9 |
| 32188638 | 2020 | Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4 synthesis and resists autophagy-mediated degradation. | 9 |
| 31323021 | 2019 | Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. | 8 |
| 31323021 | 2019 | Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. | 8 |
| 30084067 | 2018 | Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. | 4 |
| 30223810 | 2018 | Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. | 6 |
| 30446344 | 2018 | Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family. | 2 |
| 30518913 | 2018 | UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras. | 8 |
| 30084067 | 2018 | Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. | 4 |
| 30223810 | 2018 | Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. | 6 |
| 30446344 | 2018 | Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family. | 2 |
Citation
Dessen P
UBIAD1 (UbiA prenyltransferase domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42520/ubiad1
